{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O95452","secondaryAccessions":["B3KQN2","Q5Q1H9","Q5Q1I0","Q5Q1I1","Q5T5U0","Q8IUP0"],"uniProtkbId":"CXB6_HUMAN","entryAudit":{"firstPublicDate":"1999-07-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2003-09-19","entryVersion":198,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Gap junction beta-6 protein"}},"alternativeNames":[{"fullName":{"value":"Connexin-30"},"shortNames":[{"value":"Cx30"}]}]},"genes":[{"geneName":{"value":"GJB6"}}],"comments":[{"texts":[{"value":"One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q15125","geneName":"EBP","intActId":"EBI-3915253"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q9BZJ8","geneName":"GPR61","intActId":"EBI-12808020"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"P26715","geneName":"KLRC1","intActId":"EBI-9018187"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q8TAF8","geneName":"LHFPL5","intActId":"EBI-2820517"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q5J8X5","geneName":"MS4A13","intActId":"EBI-12070086"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q96IW7","geneName":"SEC22A","intActId":"EBI-8652744"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"O75396","geneName":"SEC22B","intActId":"EBI-1058865"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q3KNW5","geneName":"SLC10A6","intActId":"EBI-18159983"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"A2RU14","geneName":"TMEM218","intActId":"EBI-10173151"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O95452","intActId":"EBI-13345609"},"interactantTwo":{"uniProtKBAccession":"Q9H2L4","geneName":"TMEM60","intActId":"EBI-2852148"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"value":"Cell membrane","id":"SL-0039"},"topology":{"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"value":"Cell junction, gap junction","id":"SL-0124"}}]},{"commentType":"DISEASE","disease":{"diseaseId":"Ectodermal dysplasia 2, Clouston type","diseaseAccession":"DI-00431","acronym":"ECTD2","description":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.","diseaseCrossReference":{"database":"MIM","id":"129500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11017065"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11874494"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, autosomal recessive, 1B","diseaseAccession":"DI-00853","acronym":"DFNB1B","description":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.","diseaseCrossReference":{"database":"MIM","id":"612645"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11807148"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15994881"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, autosomal dominant, 3B","diseaseAccession":"DI-00835","acronym":"DFNA3B","description":"A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.","diseaseCrossReference":{"database":"MIM","id":"612643"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10471490"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the connexin family. Beta-type (group I) subfamily"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Connexin-deafness homepage","resourceUrl":"http://perelman.crg.es/deafness/","ftp":false},{"commentType":"WEB RESOURCE","resourceName":"Hereditary hearing loss homepage","resourceUrl":"https://hereditaryhearingloss.org/dominant","ftp":false,"note":"Gene page"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"Gap junction beta-6 protein","featureId":"PRO_0000057871"},{"type":"Topological domain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":22,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":46,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":76,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":99,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":132,"modifier":"EXACT"},"end":{"value":154,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":155,"modifier":"EXACT"},"end":{"value":192,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":215,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":216,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Natural variant","location":{"start":{"value":5,"modifier":"EXACT"},"end":{"value":5,"modifier":"EXACT"}},"description":"in DFNA3B; uncertain significance; dbSNP:rs104894414","featureCrossReferences":[{"database":"dbSNP","id":"rs104894414"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10471490"}],"featureId":"VAR_008711","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":11,"modifier":"EXACT"},"end":{"value":11,"modifier":"EXACT"}},"description":"in ECTD2; dbSNP:rs104894415","featureCrossReferences":[{"database":"dbSNP","id":"rs104894415"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11017065"}],"featureId":"VAR_015696","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":37,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"in ECTD2; dbSNP:rs104894416","featureCrossReferences":[{"database":"dbSNP","id":"rs104894416"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11874494"}],"featureId":"VAR_016838","alternativeSequence":{"originalSequence":"V","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey syndromes","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19416251"}],"featureId":"VAR_057960","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":88,"modifier":"EXACT"},"end":{"value":88,"modifier":"EXACT"}},"description":"in ECTD2; dbSNP:rs28937872","featureCrossReferences":[{"database":"dbSNP","id":"rs28937872"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11017065"}],"featureId":"VAR_015697","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10610709"}],"featureId":"VAR_022424","alternativeSequence":{"originalSequence":"S","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":159,"modifier":"EXACT"}},"description":"in dbSNP:rs35277762","featureCrossReferences":[{"database":"dbSNP","id":"rs35277762"}],"featureId":"VAR_048825","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":199,"modifier":"EXACT"},"end":{"value":199,"modifier":"EXACT"}},"description":"in dbSNP:rs111033338","featureCrossReferences":[{"database":"dbSNP","id":"rs111033338"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10610709"}],"featureId":"VAR_022425","alternativeSequence":{"originalSequence":"S","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":11,"modifier":"EXACT"},"end":{"value":11,"modifier":"EXACT"}},"description":"in Ref. 9; AAV67951","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":124,"modifier":"EXACT"},"end":{"value":124,"modifier":"EXACT"}},"description":"in Ref. 1; CAA06611","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["H"]}}],"keywords":[{"id":"KW-0965","category":"Cellular component","name":"Cell junction"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-0209","category":"Disease","name":"Deafness"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0038","category":"Disease","name":"Ectodermal dysplasia"},{"id":"KW-0303","category":"Cellular component","name":"Gap junction"},{"id":"KW-1009","category":"Biological process","name":"Hearing"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-1010","category":"Disease","name":"Non-syndromic deafness"},{"id":"KW-1007","category":"Disease","name":"Palmoplantar keratoderma"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"10471490","citationType":"journal article","authors":["Grifa A.","Wagner C.A.","D'Ambrosio L.","Melchionda S.","Bernardi F.","Lopez-Bigas N.","Rabionet R.","Arbones M.","Monica M.D.","Estivill X.","Zelante L.","Lang F.","Gasparini P."],"citationCrossReferences":[{"database":"PubMed","id":"10471490"},{"database":"DOI","id":"10.1038/12612"}],"title":"Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.","publicationDate":"1999","journal":"Nat. Genet.","firstPage":"16","lastPage":"18","volume":"23"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","VARIANT DFNA3B MET-5"]},{"referenceNumber":2,"citation":{"id":"10610709","citationType":"journal article","authors":["Kelley P.M.","Abe S.","Askew J.W.","Smith S.D.","Usami S.","Kimberling W.J."],"citationCrossReferences":[{"database":"PubMed","id":"10610709"},{"database":"DOI","id":"10.1006/geno.1999.6002"}],"title":"Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.","publicationDate":"1999","journal":"Genomics","firstPage":"172","lastPage":"176","volume":"62"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","VARIANTS GLY-139 AND THR-199"]},{"referenceNumber":3,"citation":{"id":"CI-5MOQ2VEFRLBRJ","citationType":"submission","authors":["Enriquez A.D.","Scherer S.S."],"title":"Human connexin30, updated ORF.","publicationDate":"MAY-2003","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]"],"referenceComments":[{"value":"Corpus callosum","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Brain cortex","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"16303743","citationType":"journal article","authors":["Otsuki T.","Ota T.","Nishikawa T.","Hayashi K.","Suzuki Y.","Yamamoto J.","Wakamatsu A.","Kimura K.","Sakamoto K.","Hatano N.","Kawai Y.","Ishii S.","Saito K.","Kojima S.","Sugiyama T.","Ono T.","Okano K.","Yoshikawa Y.","Aotsuka S.","Sasaki N.","Hattori A.","Okumura K.","Nagai K.","Sugano S.","Isogai T."],"citationCrossReferences":[{"database":"PubMed","id":"16303743"},{"database":"DOI","id":"10.1093/dnares/12.2.117"}],"title":"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.","publicationDate":"2005","journal":"DNA Res.","firstPage":"117","lastPage":"126","volume":"12"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Thyroid","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.S.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.R.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.F.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.M.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":7,"citation":{"id":"CI-5GBDQ6B103N1E","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":8,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":9,"citation":{"id":"15792634","citationType":"journal article","authors":["Essenfelder G.M.","Larderet G.","Waksman G.","Lamartine J."],"citationCrossReferences":[{"database":"PubMed","id":"15792634"},{"database":"DOI","id":"10.1016/j.gene.2004.12.048"}],"title":"Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.","publicationDate":"2005","journal":"Gene","firstPage":"33","lastPage":"40","volume":"350"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 1-40","GENE STRUCTURE"],"referenceComments":[{"value":"Hair follicle","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"11807148","citationType":"journal article","authors":["del Castillo I.","Villamar M.","Moreno-Pelayo M.A.","del Castillo F.J.","Alvarez A.","Telleria D.","Menendez I.","Moreno F."],"citationCrossReferences":[{"database":"PubMed","id":"11807148"},{"database":"DOI","id":"10.1056/nejmoa012052"}],"title":"A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.","publicationDate":"2002","journal":"N. Engl. J. Med.","firstPage":"243","lastPage":"249","volume":"346"},"referencePositions":["INVOLVEMENT IN DFNB1B"]},{"referenceNumber":11,"citation":{"id":"15994881","citationType":"journal article","authors":["del Castillo F.J.","Rodriguez-Ballesteros M.","Alvarez A.","Hutchin T.","Leonardi E.","de Oliveira C.A.","Azaiez H.","Brownstein Z.","Avenarius M.R.","Marlin S.","Pandya A.","Shahin H.","Siemering K.R.","Weil D.","Wuyts W.","Aguirre L.A.","Martin Y.","Moreno-Pelayo M.A.","Villamar M.","Avraham K.B.","Dahl H.H.","Kanaan M.","Nance W.E.","Petit C.","Smith R.J.","Van Camp G.","Sartorato E.L.","Murgia A.","Moreno F.","del Castillo I."],"citationCrossReferences":[{"database":"PubMed","id":"15994881"},{"database":"DOI","id":"10.1136/jmg.2004.028324"}],"title":"A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.","publicationDate":"2005","journal":"J. Med. Genet.","firstPage":"588","lastPage":"594","volume":"42"},"referencePositions":["INVOLVEMENT IN DFNB1B"]},{"referenceNumber":12,"citation":{"id":"11017065","citationType":"journal article","authors":["Lamartine J.","Munhoz Essenfelder G.","Kibar Z.","Lanneluc I.","Callouet E.","Laoudj D.","Lemaitre G.","Hand C.","Hayflick S.J.","Zonana J.","Antonarakis S.","Radhakrishna U.","Kelsell D.P.","Christianson A.L.","Pitaval A.","Der Kaloustian V.","Fraser C.","Blanchet-Bardon C.","Rouleau G.A.","Waksman G."],"citationCrossReferences":[{"database":"PubMed","id":"11017065"},{"database":"DOI","id":"10.1038/79851"}],"title":"Mutations in GJB6 cause hidrotic ectodermal dysplasia.","publicationDate":"2000","journal":"Nat. Genet.","firstPage":"142","lastPage":"144","volume":"26"},"referencePositions":["VARIANTS ECTD2 ARG-11 AND VAL-88"]},{"referenceNumber":13,"citation":{"id":"11874494","citationType":"journal article","authors":["Smith F.J.","Morley S.M.","McLean W.H.I."],"citationCrossReferences":[{"database":"PubMed","id":"11874494"},{"database":"DOI","id":"10.1046/j.0022-202x.2001.01689.x"}],"title":"A novel connexin 30 mutation in Clouston syndrome.","publicationDate":"2002","journal":"J. Invest. Dermatol.","firstPage":"530","lastPage":"532","volume":"118"},"referencePositions":["VARIANT ECTD2 GLU-37"]},{"referenceNumber":14,"citation":{"id":"19416251","citationType":"journal article","authors":["Nemoto-Hasebe I.","Akiyama M.","Kudo S.","Ishiko A.","Tanaka A.","Arita K.","Shimizu H."],"citationCrossReferences":[{"database":"PubMed","id":"19416251"},{"database":"DOI","id":"10.1111/j.1365-2133.2009.09137.x"}],"title":"Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.","publicationDate":"2009","journal":"Br. J. Dermatol.","firstPage":"452","lastPage":"455","volume":"161"},"referencePositions":["VARIANT ARG-59"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AJ005585","properties":[{"key":"ProteinId","value":"CAA06611.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AY297110","properties":[{"key":"ProteinId","value":"AAP51162.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK289592","properties":[{"key":"ProteinId","value":"BAF82281.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK075247","properties":[{"key":"ProteinId","value":"BAG52094.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL355984","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471075","properties":[{"key":"ProteinId","value":"EAX08254.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC038934","properties":[{"key":"ProteinId","value":"AAH38934.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY789474","properties":[{"key":"ProteinId","value":"AAV67951.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY789475","properties":[{"key":"ProteinId","value":"AAV67952.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY789476","properties":[{"key":"ProteinId","value":"AAV67953.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS9291.1","properties":[{"key":"Description","value":"-"}]},{"database":"RefSeq","id":"NP_001103689.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001110219.3"}]},{"database":"RefSeq","id":"NP_001103690.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001110220.3"}]},{"database":"RefSeq","id":"NP_001103691.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001110221.3"}]},{"database":"RefSeq","id":"NP_001357019.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001370090.1"}]},{"database":"RefSeq","id":"NP_001357020.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001370091.1"}]},{"database":"RefSeq","id":"NP_001357021.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001370092.1"}]},{"database":"RefSeq","id":"NP_001433136.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001446207.1"}]},{"database":"RefSeq","id":"NP_006774.2","properties":[{"key":"NucleotideSequenceId","value":"NM_006783.5"}]},{"database":"RefSeq","id":"XP_047286013.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047430057.1"}]},{"database":"RefSeq","id":"XP_054230011.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054374036.1"}]},{"database":"AlphaFoldDB","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"116018","properties":[{"key":"Interactions","value":"16"}]},{"database":"CORUM","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"O95452","properties":[{"key":"Number of interactors","value":"14"}]},{"database":"IntAct","id":"O95452","properties":[{"key":"Interactions","value":"14"}]},{"database":"MINT","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-GJB6","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000494468","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"GJB6","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000494468","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"50885","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6442","properties":[{"key":"antibodies","value":"232 antibodies from 30 providers"}]},{"database":"DNASU","id":"10804","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000241124.11","properties":[{"key":"ProteinId","value":"ENSP00000241124.6"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000400065.7","properties":[{"key":"ProteinId","value":"ENSP00000382938.3"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000400066.8","properties":[{"key":"ProteinId","value":"ENSP00000382939.3"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000636852.1","properties":[{"key":"ProteinId","value":"ENSP00000489698.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000643121.1","properties":[{"key":"ProteinId","value":"ENSP00000494468.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000643211.1","properties":[{"key":"ProteinId","value":"ENSP00000495841.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000644283.1","properties":[{"key":"ProteinId","value":"ENSP00000495320.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000644667.1","properties":[{"key":"ProteinId","value":"ENSP00000493621.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000647029.1","properties":[{"key":"ProteinId","value":"ENSP00000493834.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000647243.1","properties":[{"key":"ProteinId","value":"ENSP00000494733.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000909786.1","properties":[{"key":"ProteinId","value":"ENSP00000579845.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000909787.1","properties":[{"key":"ProteinId","value":"ENSP00000579846.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000967105.1","properties":[{"key":"ProteinId","value":"ENSP00000637164.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000967106.1","properties":[{"key":"ProteinId","value":"ENSP00000637165.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000967107.1","properties":[{"key":"ProteinId","value":"ENSP00000637166.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"Ensembl","id":"ENST00000967108.1","properties":[{"key":"ProteinId","value":"ENSP00000637167.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"GeneID","id":"10804","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:10804","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000647029.1","properties":[{"key":"ProteinId","value":"ENSP00000493834.1"},{"key":"RefSeqNucleotideId","value":"NM_001110219.3"},{"key":"RefSeqProteinId","value":"NP_001103689.1"}]},{"database":"UCSC","id":"uc001umz.5","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:4288","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA28699","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"10804","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"10804","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"GJB6","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"GJB6","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:4288","properties":[{"key":"GeneName","value":"GJB6"}]},{"database":"HPA","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (cervix, esophagus, vagina)"}]},{"database":"MalaCards","id":"GJB6","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"129500","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"604418","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"612643","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"612645","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"90635","properties":[{"key":"Disease","value":"Autosomal dominant non-syndromic genetic deafness"}]},{"database":"Orphanet","id":"90636","properties":[{"key":"Disease","value":"Autosomal recessive non-syndromic genetic deafness"}]},{"database":"Orphanet","id":"189","properties":[{"key":"Disease","value":"Hidrotic ectodermal dysplasia"}]},{"database":"Orphanet","id":"477","properties":[{"key":"Disease","value":"KID syndrome"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QWM8","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT01030000234513","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_037388_4_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PNHAIKE","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8934037at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O95452","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-190861","properties":[{"key":"PathwayName","value":"Gap junction assembly"}]},{"database":"SignaLink","id":"O95452","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000121742","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"10804","properties":[{"key":"hits","value":"13 hits in 1149 CRISPR screens"}]},{"database":"ChiTaRS","id":"GJB6","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"GJB6","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"10804","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O95452","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:O95452","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"RNAct","id":"O95452","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Expressed in upper arm skin and 132 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"O95452","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005884","properties":[{"key":"GoTerm","value":"C:actin filament"},{"key":"GoEvidenceType","value":"IMP:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:0030054","properties":[{"key":"GoTerm","value":"C:cell junction"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005922","properties":[{"key":"GoTerm","value":"C:connexin complex"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0005921","properties":[{"key":"GoTerm","value":"C:gap junction"},{"key":"GoEvidenceType","value":"IMP:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:0051015","properties":[{"key":"GoTerm","value":"F:actin filament binding"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:0048487","properties":[{"key":"GoTerm","value":"F:beta-tubulin binding"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:0005243","properties":[{"key":"GoTerm","value":"F:gap junction channel activity"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12767933"}]},{"database":"GO","id":"GO:1903763","properties":[{"key":"GoTerm","value":"F:gap junction channel activity involved in cell communication by electrical coupling"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12767933"}]},{"database":"GO","id":"GO:0008017","properties":[{"key":"GoTerm","value":"F:microtubule binding"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:0007267","properties":[{"key":"GoTerm","value":"P:cell-cell signaling"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0016264","properties":[{"key":"GoTerm","value":"P:gap junction assembly"},{"key":"GoEvidenceType","value":"IMP:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19285977"}]},{"database":"GO","id":"GO:1990349","properties":[{"key":"GoTerm","value":"P:gap junction-mediated intercellular transport"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12767933"}]},{"database":"GO","id":"GO:0035633","properties":[{"key":"GoTerm","value":"P:maintenance of blood-brain barrier"},{"key":"GoEvidenceType","value":"NAS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"30280653"}]},{"database":"GO","id":"GO:0007605","properties":[{"key":"GoTerm","value":"P:sensory perception of sound"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"10610709"}]},{"database":"GO","id":"GO:0003163","properties":[{"key":"GoTerm","value":"P:sinoatrial node development"},{"key":"GoEvidenceType","value":"NAS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"26786210"}]},{"database":"GO","id":"GO:0055085","properties":[{"key":"GoTerm","value":"P:transmembrane transport"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12767933"}]},{"database":"FunFam","id":"1.20.1440.80:FF:000001","properties":[{"key":"EntryName","value":"Gap junction alpha-1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.20.1440.80","properties":[{"key":"EntryName","value":"Gap junction channel protein cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000500","properties":[{"key":"EntryName","value":"Connexin"}]},{"database":"InterPro","id":"IPR019570","properties":[{"key":"EntryName","value":"Connexin_CCC"}]},{"database":"InterPro","id":"IPR017990","properties":[{"key":"EntryName","value":"Connexin_CS"}]},{"database":"InterPro","id":"IPR013092","properties":[{"key":"EntryName","value":"Connexin_N"}]},{"database":"InterPro","id":"IPR038359","properties":[{"key":"EntryName","value":"Connexin_N_sf"}]},{"database":"PANTHER","id":"PTHR11984","properties":[{"key":"EntryName","value":"CONNEXIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11984:SF23","properties":[{"key":"EntryName","value":"GAP JUNCTION BETA-6 PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00029","properties":[{"key":"EntryName","value":"Connexin"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00206","properties":[{"key":"EntryName","value":"CONNEXIN"}]},{"database":"SMART","id":"SM00037","properties":[{"key":"EntryName","value":"CNX"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM01089","properties":[{"key":"EntryName","value":"Connexin_CCC"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00407","properties":[{"key":"EntryName","value":"CONNEXINS_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00408","properties":[{"key":"EntryName","value":"CONNEXINS_2"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS","length":261,"molWeight":30387,"crc64":"394A2D97E08EEB43","md5":"37145AB09FEADE821A09EF03DBB40133"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":10,"SUBCELLULAR LOCATION":1,"DISEASE":3,"SIMILARITY":1,"WEB RESOURCE":2},"countByFeatureType":{"Chain":1,"Topological domain":5,"Transmembrane":4,"Natural variant":8,"Sequence conflict":2},"uniParcId":"UPI0000074737"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A2R8Y4J9","uniProtkbId":"A0A2R8Y4J9_HUMAN","entryAudit":{"firstPublicDate":"2018-06-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-06-20","entryVersion":39,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"}],"value":"Gap junction protein beta 6"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"}],"value":"GJB6"}}],"comments":[{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004610"}],"value":"Cell junction, gap junction","id":"SL-0124"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]}],"features":[{"type":"Transmembrane","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":41,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Transmembrane","location":{"start":{"value":77,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Domain","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"Connexin N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"SMART","id":"SM00037"}]},{"type":"Non-terminal residue","location":{"start":{"value":108,"modifier":"EXACT"},"end":{"value":108,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022949"}],"id":"KW-0965","category":"Cellular component","name":"Cell junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022475"}],"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022868"}],"id":"KW-0303","category":"Cellular component","name":"Gap junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023136"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0A2R8Y4J9"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0A2R8Y4J9"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494122.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL355984","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A2R8Y4J9","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A2R8Y4J9","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"A0A2R8Y4J9","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6442","properties":[{"key":"antibodies","value":"232 antibodies from 30 providers"}]},{"database":"Ensembl","id":"ENST00000644236.1","properties":[{"key":"ProteinId","value":"ENSP00000494122.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"HGNC","id":"HGNC:4288","properties":[{"key":"GeneName","value":"GJB6"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT01030000234513","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PNHAIKE","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8934037at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GJB6","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"Bgee","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Expressed in upper arm skin and 132 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"A0A2R8Y4J9","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030054","properties":[{"key":"GoTerm","value":"C:cell junction"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005922","properties":[{"key":"GoTerm","value":"C:connexin complex"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0007154","properties":[{"key":"GoTerm","value":"P:cell communication"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"Gene3D","id":"1.20.1440.80","properties":[{"key":"EntryName","value":"Gap junction channel protein cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000500","properties":[{"key":"EntryName","value":"Connexin"}]},{"database":"InterPro","id":"IPR017990","properties":[{"key":"EntryName","value":"Connexin_CS"}]},{"database":"InterPro","id":"IPR013092","properties":[{"key":"EntryName","value":"Connexin_N"}]},{"database":"InterPro","id":"IPR038359","properties":[{"key":"EntryName","value":"Connexin_N_sf"}]},{"database":"PANTHER","id":"PTHR11984","properties":[{"key":"EntryName","value":"CONNEXIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11984:SF23","properties":[{"key":"EntryName","value":"GAP JUNCTION BETA-6 PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00029","properties":[{"key":"EntryName","value":"Connexin"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00206","properties":[{"key":"EntryName","value":"CONNEXIN"}]},{"database":"SMART","id":"SM00037","properties":[{"key":"EntryName","value":"CNX"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00407","properties":[{"key":"EntryName","value":"CONNEXINS_1"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRR","length":108,"molWeight":12554,"crc64":"3D1DCDE79DD4E32D","md5":"05414C15F16CFB97E7EF56E9F34DFF05"},"extraAttributes":{"countByCommentType":{"SUBCELLULAR LOCATION":1},"countByFeatureType":{"Transmembrane":2,"Domain":1,"Non-terminal residue":1},"uniParcId":"UPI000D18E3DB"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A2R8YCY0","uniProtkbId":"A0A2R8YCY0_HUMAN","entryAudit":{"firstPublicDate":"2018-06-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-06-20","entryVersion":39,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"}],"value":"Gap junction protein beta 6"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"}],"value":"GJB6"}}],"comments":[{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004610"}],"value":"Cell junction, gap junction","id":"SL-0124"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]}],"features":[{"type":"Transmembrane","location":{"start":{"value":20,"modifier":"EXACT"},"end":{"value":40,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Domain","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"Connexin N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"SMART","id":"SM00037"}]},{"type":"Non-terminal residue","location":{"start":{"value":78,"modifier":"EXACT"},"end":{"value":78,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022949"}],"id":"KW-0965","category":"Cellular component","name":"Cell junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022475"}],"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022868"}],"id":"KW-0303","category":"Cellular component","name":"Gap junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023136"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0A2R8YCY0"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0A2R8YCY0"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493512.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL355984","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A2R8YCY0","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A2R8YCY0","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"A0A2R8YCY0","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6442","properties":[{"key":"antibodies","value":"232 antibodies from 30 providers"}]},{"database":"Ensembl","id":"ENST00000646108.1","properties":[{"key":"ProteinId","value":"ENSP00000493512.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"HGNC","id":"HGNC:4288","properties":[{"key":"GeneName","value":"GJB6"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT01030000234513","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PNHAIKE","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8934037at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GJB6","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"Bgee","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Expressed in upper arm skin and 132 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"A0A2R8YCY0","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030054","properties":[{"key":"GoTerm","value":"C:cell junction"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005922","properties":[{"key":"GoTerm","value":"C:connexin complex"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0007154","properties":[{"key":"GoTerm","value":"P:cell communication"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"Gene3D","id":"1.20.1440.80","properties":[{"key":"EntryName","value":"Gap junction channel protein cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000500","properties":[{"key":"EntryName","value":"Connexin"}]},{"database":"InterPro","id":"IPR017990","properties":[{"key":"EntryName","value":"Connexin_CS"}]},{"database":"InterPro","id":"IPR013092","properties":[{"key":"EntryName","value":"Connexin_N"}]},{"database":"InterPro","id":"IPR038359","properties":[{"key":"EntryName","value":"Connexin_N_sf"}]},{"database":"PANTHER","id":"PTHR11984","properties":[{"key":"EntryName","value":"CONNEXIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11984:SF23","properties":[{"key":"EntryName","value":"GAP JUNCTION BETA-6 PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00029","properties":[{"key":"EntryName","value":"Connexin"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00206","properties":[{"key":"EntryName","value":"CONNEXIN"}]},{"database":"SMART","id":"SM00037","properties":[{"key":"EntryName","value":"CNX"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00407","properties":[{"key":"EntryName","value":"CONNEXINS_1"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWA","length":78,"molWeight":8953,"crc64":"780CC3C62DA616D5","md5":"92601BEA40DB44CAAA59805B79CB2E0B"},"extraAttributes":{"countByCommentType":{"SUBCELLULAR LOCATION":1},"countByFeatureType":{"Transmembrane":1,"Domain":1,"Non-terminal residue":1},"uniParcId":"UPI000D196683"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A2R8Y5T6","uniProtkbId":"A0A2R8Y5T6_HUMAN","entryAudit":{"firstPublicDate":"2018-06-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-06-20","entryVersion":39,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"}],"value":"Gap junction protein beta 6"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"}],"value":"GJB6"}}],"comments":[{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004610"}],"value":"Cell junction, gap junction","id":"SL-0124"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]}],"features":[{"type":"Transmembrane","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":41,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Transmembrane","location":{"start":{"value":77,"modifier":"EXACT"},"end":{"value":98,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Domain","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"Connexin N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"SMART","id":"SM00037"}]},{"type":"Non-terminal residue","location":{"start":{"value":103,"modifier":"EXACT"},"end":{"value":103,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022949"}],"id":"KW-0965","category":"Cellular component","name":"Cell junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022475"}],"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022868"}],"id":"KW-0303","category":"Cellular component","name":"Gap junction"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023136"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0A2R8Y5T6"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0A2R8Y5T6"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000494720.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL355984","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A2R8Y5T6","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A2R8Y5T6","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"A0A2R8Y5T6","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6442","properties":[{"key":"antibodies","value":"232 antibodies from 30 providers"}]},{"database":"Ensembl","id":"ENST00000645654.1","properties":[{"key":"ProteinId","value":"ENSP00000494720.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"HGNC","id":"HGNC:4288","properties":[{"key":"GeneName","value":"GJB6"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT01030000234513","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PNHAIKE","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8934037at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GJB6","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"Bgee","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Expressed in upper arm skin and 132 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"A0A2R8Y5T6","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030054","properties":[{"key":"GoTerm","value":"C:cell junction"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005922","properties":[{"key":"GoTerm","value":"C:connexin complex"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0007154","properties":[{"key":"GoTerm","value":"P:cell communication"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"Gene3D","id":"1.20.1440.80","properties":[{"key":"EntryName","value":"Gap junction channel protein cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000500","properties":[{"key":"EntryName","value":"Connexin"}]},{"database":"InterPro","id":"IPR017990","properties":[{"key":"EntryName","value":"Connexin_CS"}]},{"database":"InterPro","id":"IPR013092","properties":[{"key":"EntryName","value":"Connexin_N"}]},{"database":"InterPro","id":"IPR038359","properties":[{"key":"EntryName","value":"Connexin_N_sf"}]},{"database":"PANTHER","id":"PTHR11984","properties":[{"key":"EntryName","value":"CONNEXIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11984:SF23","properties":[{"key":"EntryName","value":"GAP JUNCTION BETA-6 PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00029","properties":[{"key":"EntryName","value":"Connexin"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00206","properties":[{"key":"EntryName","value":"CONNEXIN"}]},{"database":"SMART","id":"SM00037","properties":[{"key":"EntryName","value":"CNX"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00407","properties":[{"key":"EntryName","value":"CONNEXINS_1"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETT","length":103,"molWeight":11810,"crc64":"C4E32D7E37891BA5","md5":"85645D289E3FDB230700F9784B46965F"},"extraAttributes":{"countByCommentType":{"SUBCELLULAR LOCATION":1},"countByFeatureType":{"Transmembrane":2,"Domain":1,"Non-terminal residue":1},"uniParcId":"UPI000D195BB0"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A2R8Y6N2","uniProtkbId":"A0A2R8Y6N2_HUMAN","entryAudit":{"firstPublicDate":"2018-06-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-06-20","entryVersion":39,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"}],"value":"Gap junction protein beta 6"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"}],"value":"GJB6"}}],"comments":[{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004651"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]}],"features":[{"type":"Transmembrane","location":{"start":{"value":20,"modifier":"EXACT"},"end":{"value":40,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}]},{"type":"Domain","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"Connexin N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF00029"}]},{"type":"Non-terminal residue","location":{"start":{"value":45,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022475"}],"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023136"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0A2R8Y6N2"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0A2R8Y6N2"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022692"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022989"},{"evidenceCode":"ECO:0000256","source":"SAM","id":"Phobius"}],"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000495437.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL355984","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A2R8Y6N2","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A2R8Y6N2","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"A0A2R8Y6N2","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6442","properties":[{"key":"antibodies","value":"232 antibodies from 30 providers"}]},{"database":"Ensembl","id":"ENST00000642251.1","properties":[{"key":"ProteinId","value":"ENSP00000495437.1"},{"key":"GeneId","value":"ENSG00000121742.20"}]},{"database":"HGNC","id":"HGNC:4288","properties":[{"key":"GeneName","value":"GJB6"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000121742","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT01030000234513","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PNHAIKE","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8934037at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GJB6","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"Bgee","id":"ENSG00000121742","properties":[{"key":"ExpressionPatterns","value":"Expressed in upper arm skin and 132 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"A0A2R8Y6N2","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030054","properties":[{"key":"GoTerm","value":"C:cell junction"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005922","properties":[{"key":"GoTerm","value":"C:connexin complex"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0007154","properties":[{"key":"GoTerm","value":"P:cell communication"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"Gene3D","id":"1.20.1440.80","properties":[{"key":"EntryName","value":"Gap junction channel protein cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000500","properties":[{"key":"EntryName","value":"Connexin"}]},{"database":"InterPro","id":"IPR013092","properties":[{"key":"EntryName","value":"Connexin_N"}]},{"database":"InterPro","id":"IPR038359","properties":[{"key":"EntryName","value":"Connexin_N_sf"}]},{"database":"PANTHER","id":"PTHR11984","properties":[{"key":"EntryName","value":"CONNEXIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11984:SF23","properties":[{"key":"EntryName","value":"GAP JUNCTION BETA-6 PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00029","properties":[{"key":"EntryName","value":"Connexin"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWG","length":45,"molWeight":5059,"crc64":"5FA9BFE85BD71A71","md5":"61C62D03A0764D7B4DEAEC2F0F057BED"},"extraAttributes":{"countByCommentType":{"SUBCELLULAR LOCATION":1},"countByFeatureType":{"Transmembrane":1,"Domain":1,"Non-terminal residue":1},"uniParcId":"UPI000D193F3D"}}]}