{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9P2K1","secondaryAccessions":["A6ND97","B3FW08","D6RB72","E7EP21","E9PEV5","Q3SYP3","Q9H8A7"],"uniProtkbId":"C2D2A_HUMAN","entryAudit":{"firstPublicDate":"2008-02-05","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-05-05","entryVersion":163,"sequenceVersion":3},"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":"Coiled-coil and C2 domain-containing protein 2A"}}},"genes":[{"geneName":{"value":"CC2D2A"},"synonyms":[{"value":"KIAA1345"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18513680"}],"value":"Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Part of the tectonic-like complex (also named B9 complex)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Localizes at the transition zone, a region between the basal body and the ciliary axoneme"}]},"subcellularLocations":[{"location":{"value":"Cytoplasm","id":"SL-0086"}},{"location":{"value":"Cytoplasm, cytoskeleton, cilium basal body","id":"SL-0087"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9P2K1-4"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9P2K1-2"],"sequenceIds":["VSP_030923","VSP_037223"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q9P2K1-5"],"sequenceIds":["VSP_045255","VSP_045256"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q9P2K1-6"],"sequenceIds":["VSP_045453","VSP_045454"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18387594"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"}],"value":"Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"}],"value":"At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely expressedin particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22 expression continues to be intense within the CNS, where strong and specific expression is observed in the eye and in external granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium"}],"commentType":"DEVELOPMENTAL STAGE"},{"commentType":"DISEASE","disease":{"diseaseId":"Meckel syndrome 6","diseaseAccession":"DI-00704","acronym":"MKS6","description":"A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.","diseaseCrossReference":{"database":"MIM","id":"612284"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18513680"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19466712"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24706459"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31411728"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Joubert syndrome 9","diseaseAccession":"DI-00612","acronym":"JBTS9","description":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.","diseaseCrossReference":{"database":"MIM","id":"612285"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18387594"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22246503"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22425360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23012439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"COACH syndrome 2","diseaseAccession":"DI-05978","acronym":"COACH2","description":"A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH2 inheritance is autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"619111"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19574260"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Retinitis pigmentosa 93","diseaseAccession":"DI-06401","acronym":"RP93","description":"A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP93 is an autosomal recessive, mild to moderate form, with onset in the second or third decade of life.","diseaseCrossReference":{"database":"MIM","id":"619845"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30267408"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"AAI03711.1","note":"Contaminating sequence. Potential poly-A sequence.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAA92583.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Miscellaneous discrepancy","sequence":"BAB14710.1","note":"Aberrant splicing.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1620,"modifier":"EXACT"}},"description":"Coiled-coil and C2 domain-containing protein 2A","featureId":"PRO_0000317250"},{"type":"Domain","location":{"start":{"value":1025,"modifier":"EXACT"},"end":{"value":1203,"modifier":"EXACT"}},"description":"C2","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00041"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":592,"modifier":"EXACT"},"end":{"value":628,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1062,"modifier":"EXACT"},"end":{"value":1087,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":439,"modifier":"EXACT"},"end":{"value":493,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Coiled coil","location":{"start":{"value":532,"modifier":"EXACT"},"end":{"value":582,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":12,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":29,"modifier":"EXACT"},"end":{"value":41,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":103,"modifier":"EXACT"},"end":{"value":115,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":156,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":220,"modifier":"EXACT"},"end":{"value":230,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1062,"modifier":"EXACT"},"end":{"value":1072,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":49,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10718198"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_030923","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045255","alternativeSequence":{"originalSequence":"PPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQE","alternativeSequences":["KPTPFSRACWQILPHLSAGVPLLGWEHPVQGKSFQATNCCPQGNGVRKIPPWQPPGACAGGAQDPPPEYDSPERPTERAGC"]}},{"type":"Alternative sequence","location":{"start":{"value":83,"modifier":"EXACT"},"end":{"value":111,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045453","alternativeSequence":{"originalSequence":"SLPPIPSTSRTGFAEFSMRGRMREKLQAA","alternativeSequences":["RELVVKKSLGRPGTVTHVCNPSTLEGRGG"]}},{"type":"Alternative sequence","location":{"start":{"value":112,"modifier":"EXACT"},"end":{"value":1620,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045454","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":1620,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045256","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1199,"modifier":"EXACT"},"end":{"value":1257,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10718198"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_037223","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":117,"modifier":"EXACT"},"end":{"value":117,"modifier":"EXACT"}},"description":"in JBTS9; uncertain significance; dbSNP:rs186264635","featureCrossReferences":[{"database":"dbSNP","id":"rs186264635"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076881","alternativeSequence":{"originalSequence":"S","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":376,"modifier":"EXACT"},"end":{"value":376,"modifier":"EXACT"}},"description":"in dbSNP:rs16892095","featureCrossReferences":[{"database":"dbSNP","id":"rs16892095"}],"featureId":"VAR_038489","alternativeSequence":{"originalSequence":"E","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":507,"modifier":"EXACT"},"end":{"value":507,"modifier":"EXACT"}},"description":"in JBTS9; benign; dbSNP:rs144439937","featureCrossReferences":[{"database":"dbSNP","id":"rs144439937"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076882","alternativeSequence":{"originalSequence":"K","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":559,"modifier":"EXACT"},"end":{"value":559,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs754221308","featureCrossReferences":[{"database":"dbSNP","id":"rs754221308"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076883","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":660,"modifier":"EXACT"},"end":{"value":660,"modifier":"EXACT"}},"description":"in dbSNP:rs16892134","featureCrossReferences":[{"database":"dbSNP","id":"rs16892134"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_038490","alternativeSequence":{"originalSequence":"V","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":684,"modifier":"EXACT"},"end":{"value":684,"modifier":"EXACT"}},"description":"in dbSNP:rs190698163","featureCrossReferences":[{"database":"dbSNP","id":"rs190698163"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076884","alternativeSequence":{"originalSequence":"L","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":701,"modifier":"EXACT"},"end":{"value":701,"modifier":"EXACT"}},"description":"in dbSNP:rs537906621","featureCrossReferences":[{"database":"dbSNP","id":"rs537906621"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076885","alternativeSequence":{"originalSequence":"L","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":721,"modifier":"EXACT"},"end":{"value":721,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs199768782","featureCrossReferences":[{"database":"dbSNP","id":"rs199768782"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"}],"featureId":"VAR_062804","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":800,"modifier":"EXACT"},"end":{"value":800,"modifier":"EXACT"}},"description":"in dbSNP:rs751256652","featureCrossReferences":[{"database":"dbSNP","id":"rs751256652"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"}],"featureId":"VAR_062805","alternativeSequence":{"originalSequence":"K","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":925,"modifier":"EXACT"},"end":{"value":925,"modifier":"EXACT"}},"description":"in RP93; dbSNP:rs200707391","featureCrossReferences":[{"database":"dbSNP","id":"rs200707391"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30267408"}],"featureId":"VAR_087118","alternativeSequence":{"originalSequence":"R","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":1045,"modifier":"EXACT"},"end":{"value":1045,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs863225173","featureCrossReferences":[{"database":"dbSNP","id":"rs863225173"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076886","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":1096,"modifier":"EXACT"},"end":{"value":1096,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs863225169","featureCrossReferences":[{"database":"dbSNP","id":"rs863225169"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_055321","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":1114,"modifier":"EXACT"},"end":{"value":1114,"modifier":"EXACT"}},"description":"in MKS6 and JBTS9; dbSNP:rs386833752","featureCrossReferences":[{"database":"dbSNP","id":"rs386833752"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19466712"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"}],"featureId":"VAR_062293","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":1116,"modifier":"EXACT"},"end":{"value":1116,"modifier":"EXACT"}},"description":"in COACH2 and JBTS9; dbSNP:rs267606709","featureCrossReferences":[{"database":"dbSNP","id":"rs267606709"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19574260"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_063804","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":1122,"modifier":"EXACT"},"end":{"value":1122,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs118204051","featureCrossReferences":[{"database":"dbSNP","id":"rs118204051"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_055322","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":1126,"modifier":"EXACT"},"end":{"value":1126,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs1473532901","featureCrossReferences":[{"database":"dbSNP","id":"rs1473532901"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22425360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23012439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}],"featureId":"VAR_068169","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":1151,"modifier":"EXACT"},"end":{"value":1151,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs863225170","featureCrossReferences":[{"database":"dbSNP","id":"rs863225170"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076887","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":1182,"modifier":"EXACT"},"end":{"value":1182,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs386833755","featureCrossReferences":[{"database":"dbSNP","id":"rs386833755"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}],"featureId":"VAR_075698","alternativeSequence":{"originalSequence":"W","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":1284,"modifier":"EXACT"},"end":{"value":1284,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs779823379","featureCrossReferences":[{"database":"dbSNP","id":"rs779823379"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076888","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":1284,"modifier":"EXACT"},"end":{"value":1284,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs754586025","featureCrossReferences":[{"database":"dbSNP","id":"rs754586025"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076889","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":1330,"modifier":"EXACT"},"end":{"value":1330,"modifier":"EXACT"}},"description":"in JBTS9; uncertain significance; dbSNP:rs763486732","featureCrossReferences":[{"database":"dbSNP","id":"rs763486732"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076890","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":1363,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"in MKS6; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31411728"}],"featureId":"VAR_087303","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":1430,"modifier":"EXACT"},"end":{"value":1430,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs863225168","featureCrossReferences":[{"database":"dbSNP","id":"rs863225168"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_076891","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":1447,"modifier":"EXACT"},"end":{"value":1447,"modifier":"EXACT"}},"description":"in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41; dbSNP:rs387907058","featureCrossReferences":[{"database":"dbSNP","id":"rs387907058"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22246503"}],"featureId":"VAR_067535","alternativeSequence":{"originalSequence":"E","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":1517,"modifier":"EXACT"},"end":{"value":1517,"modifier":"EXACT"}},"description":"in MKS6; uncertain significance; dbSNP:rs780673487","featureCrossReferences":[{"database":"dbSNP","id":"rs780673487"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24706459"}],"featureId":"VAR_077560","alternativeSequence":{"originalSequence":"T","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":1519,"modifier":"EXACT"},"end":{"value":1519,"modifier":"EXACT"}},"description":"in MKS6; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31411728"}],"featureId":"VAR_087304","alternativeSequence":{"originalSequence":"W","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":1520,"modifier":"EXACT"},"end":{"value":1520,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs1478902342","featureCrossReferences":[{"database":"dbSNP","id":"rs1478902342"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23012439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}],"featureId":"VAR_069045","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":1528,"modifier":"EXACT"},"end":{"value":1528,"modifier":"EXACT"}},"description":"in JBTS9 and COACH2; dbSNP:rs118204052","featureCrossReferences":[{"database":"dbSNP","id":"rs118204052"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19574260"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"}],"featureId":"VAR_055323","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":1551,"modifier":"EXACT"},"end":{"value":1551,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs763425007","featureCrossReferences":[{"database":"dbSNP","id":"rs763425007"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18950740"}],"featureId":"VAR_055324","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":1556,"modifier":"EXACT"},"end":{"value":1556,"modifier":"EXACT"}},"description":"in JBTS9; dbSNP:rs201502401","featureCrossReferences":[{"database":"dbSNP","id":"rs201502401"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19777577"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22241855"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22425360"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23012439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}],"featureId":"VAR_062806","alternativeSequence":{"originalSequence":"D","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":1568,"modifier":"EXACT"},"end":{"value":1568,"modifier":"EXACT"}},"description":"in JBTS9","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23012439"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26477546"}],"featureId":"VAR_069046","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["H"]}},{"type":"Sequence conflict","location":{"start":{"value":524,"modifier":"EXACT"},"end":{"value":524,"modifier":"EXACT"}},"description":"in Ref. 5; AAI03711","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["S"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"id":"KW-1186","category":"Disease","name":"Ciliopathy"},{"id":"KW-0969","category":"Cellular component","name":"Cilium"},{"id":"KW-0970","category":"Biological process","name":"Cilium biogenesis/degradation"},{"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0206","category":"Cellular component","name":"Cytoskeleton"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0979","category":"Disease","name":"Joubert syndrome"},{"id":"KW-0981","category":"Disease","name":"Meckel syndrome"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0682","category":"Disease","name":"Retinitis pigmentosa"}],"references":[{"referenceNumber":1,"citation":{"id":"18513680","citationType":"journal article","authors":["Tallila J.","Jakkula E.","Peltonen L.","Salonen R.","Kestilae M."],"citationCrossReferences":[{"database":"PubMed","id":"18513680"},{"database":"DOI","id":"10.1016/j.ajhg.2008.05.004"}],"title":"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.","publicationDate":"2008","journal":"Am. J. Hum. Genet.","firstPage":"1361","lastPage":"1367","volume":"82"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","FUNCTION","INVOLVEMENT IN MKS6"]},{"referenceNumber":2,"citation":{"id":"10718198","citationType":"journal article","authors":["Nagase T.","Kikuno R.","Ishikawa K.","Hirosawa M.","Ohara O."],"citationCrossReferences":[{"database":"PubMed","id":"10718198"},{"database":"DOI","id":"10.1093/dnares/7.1.65"}],"title":"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.","publicationDate":"2000","journal":"DNA Res.","firstPage":"65","lastPage":"73","volume":"7"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"CI-56FT96O07V0QG","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton 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":5,"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] (ISOFORMS 3 AND 4)","NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-527 (ISOFORM 2)"],"referenceComments":[{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":6,"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] OF 283-1620 (ISOFORMS 1/2)"],"referenceComments":[{"value":"Thyroid","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"18387594","citationType":"journal article","authors":["Noor A.","Windpassinger C.","Patel M.","Stachowiak B.","Mikhailov A.","Azam M.","Irfan M.","Siddiqui Z.K.","Naeem F.","Paterson A.D.","Lutfullah M.","Vincent J.B.","Ayub M."],"citationCrossReferences":[{"database":"PubMed","id":"18387594"},{"database":"DOI","id":"10.1016/j.ajhg.2008.01.021"}],"title":"CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.","publicationDate":"2008","journal":"Am. J. Hum. Genet.","firstPage":"1011","lastPage":"1018","volume":"82"},"referencePositions":["TISSUE SPECIFICITY","SUBCELLULAR LOCATION","INVOLVEMENT IN JBTS9"]},{"referenceNumber":8,"citation":{"id":"19068953","citationType":"journal article","authors":["Noor A.","Windpassinger C.","Patel M.","Stachowiak B.","Mikhailov A.","Azam M.","Irfan M.","Paterson A.D.","Lutufullah M.","Doherty D.","Vincent J.B.","Ayub M."],"citationCrossReferences":[{"database":"PubMed","id":"19068953"},{"database":"DOI","id":"10.1016/j.ajhg.2008.10.005"}],"publicationDate":"2008","journal":"Am. J. Hum. Genet.","firstPage":"656","lastPage":"656","volume":"83"},"referencePositions":["ERRATUM OF PUBMED:18387594"]},{"referenceNumber":9,"citation":{"id":"19777577","citationType":"journal article","authors":["Mougou-Zerelli S.","Thomas S.","Szenker E.","Audollent S.","Elkhartoufi N.","Babarit C.","Romano S.","Salomon R.","Amiel J.","Esculpavit C.","Gonzales M.","Escudier E.","Leheup B.","Loget P.","Odent S.","Roume J.","Gerard M.","Delezoide A.-L.","Khung S.","Patrier S.","Cordier M.-P.","Bouvier R.","Martinovic J.","Gubler M.-C.","Boddaert N.","Munnich A.","Encha-Razavi F.","Valente E.M.","Saad A.","Saunier S.","Vekemans M.","Attie-Bitach T."],"citationCrossReferences":[{"database":"PubMed","id":"19777577"},{"database":"DOI","id":"10.1002/humu.21116"}],"title":"CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.","publicationDate":"2009","journal":"Hum. Mutat.","firstPage":"1574","lastPage":"1582","volume":"30"},"referencePositions":["DEVELOPMENTAL STAGE","VARIANTS JBTS9 SER-721; MET-1114 AND VAL-1556","VARIANT GLU-800"]},{"referenceNumber":10,"citation":{"id":"18950740","citationType":"journal article","authors":["Gorden N.T.","Arts H.H.","Parisi M.A.","Coene K.L.M.","Letteboer S.J.F.","van Beersum S.E.C.","Mans D.A.","Hikida A.","Eckert M.","Knutzen D.","Alswaid A.F.","Oezyurek H.","Dibooglu S.","Otto E.A.","Liu Y.","Davis E.E.","Hutter C.M.","Bammler T.K.","Farin F.M.","Dorschner M.","Topcu M.","Zackai E.H.","Rosenthal P.","Owens K.N.","Katsanis N.","Vincent J.B.","Hildebrandt F.","Rubel E.W.","Raible D.W.","Knoers N.V.A.M.","Chance P.F.","Roepman R.","Moens C.B.","Glass I.A.","Doherty D."],"citationCrossReferences":[{"database":"PubMed","id":"18950740"},{"database":"DOI","id":"10.1016/j.ajhg.2008.10.002"}],"title":"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.","publicationDate":"2008","journal":"Am. J. Hum. Genet.","firstPage":"559","lastPage":"571","volume":"83"},"referencePositions":["VARIANTS JBTS9 HIS-1096; SER-1122; CYS-1528 AND PRO-1551","TISSUE SPECIFICITY","SUBCELLULAR LOCATION","INTERACTION WITH CEP290"]},{"referenceNumber":11,"citation":{"id":"19466712","citationType":"journal article","authors":["Tallila J.","Salonen R.","Kohlschmidt N.","Peltonen L.","Kestilae M."],"citationCrossReferences":[{"database":"PubMed","id":"19466712"},{"database":"DOI","id":"10.1002/humu.21057"}],"title":"Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?","publicationDate":"2009","journal":"Hum. Mutat.","firstPage":"E813","lastPage":"E830","volume":"30"},"referencePositions":["VARIANT MKS6 MET-1114"]},{"referenceNumber":12,"citation":{"id":"19574260","citationType":"journal article","authors":["Doherty D.","Parisi M.A.","Finn L.S.","Gunay-Aygun M.","Al-Mateen M.","Bates D.","Clericuzio C.","Demir H.","Dorschner M.","van Essen A.J.","Gahl W.A.","Gentile M.","Gorden N.T.","Hikida A.","Knutzen D.","Ozyurek H.","Phelps I.","Rosenthal P.","Verloes A.","Weigand H.","Chance P.F.","Dobyns W.B.","Glass I.A."],"citationCrossReferences":[{"database":"PubMed","id":"19574260"},{"database":"DOI","id":"10.1136/jmg.2009.067249"}],"title":"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).","publicationDate":"2010","journal":"J. Med. Genet.","firstPage":"8","lastPage":"21","volume":"47"},"referencePositions":["VARIANTS COACH2 MET-1116 AND CYS-1528"]},{"referenceNumber":13,"citation":{"id":"22425360","citationType":"journal article","authors":["Srour M.","Schwartzentruber J.","Hamdan F.F.","Ospina L.H.","Patry L.","Labuda D.","Massicotte C.","Dobrzeniecka S.","Capo-Chichi J.M.","Papillon-Cavanagh S.","Samuels M.E.","Boycott K.M.","Shevell M.I.","Laframboise R.","Desilets V.","Maranda B.","Rouleau G.A.","Majewski J.","Michaud J.L."],"citationCrossReferences":[{"database":"PubMed","id":"22425360"},{"database":"DOI","id":"10.1016/j.ajhg.2012.02.011"}],"title":"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.","publicationDate":"2012","journal":"Am. J. Hum. Genet.","firstPage":"693","lastPage":"700","volume":"90"},"referencePositions":["VARIANTS JBTS9 LYS-1126 AND VAL-1556"]},{"referenceNumber":14,"citation":{"id":"22241855","citationType":"journal article","authors":["Bachmann-Gagescu R.","Ishak G.E.","Dempsey J.C.","Adkins J.","O'Day D.","Phelps I.G.","Gunay-Aygun M.","Kline A.D.","Szczaluba K.","Martorell L.","Alswaid A.","Alrasheed S.","Pai S.","Izatt L.","Ronan A.","Parisi M.A.","Mefford H.","Glass I.","Doherty D."],"citationCrossReferences":[{"database":"PubMed","id":"22241855"},{"database":"DOI","id":"10.1136/jmedgenet-2011-100552"}],"title":"Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.","publicationDate":"2012","journal":"J. Med. Genet.","firstPage":"126","lastPage":"137","volume":"49"},"referencePositions":["VARIANTS JBTS9 ARG-117; GLU-507; PRO-559; ALA-1045; HIS-1096; MET-1116; SER-1122; ALA-1151; CYS-1284; HIS-1284; GLN-1330; ALA-1430; CYS-1528 AND VAL-1556","VARIANTS ILE-660; ILE-684 AND VAL-701"]},{"referenceNumber":15,"citation":{"id":"23012439","citationType":"journal article","authoringGroup":["FORGE Canada Consortium"],"authors":["Srour M.","Hamdan F.F.","Schwartzentruber J.A.","Patry L.","Ospina L.H.","Shevell M.I.","Desilets V.","Dobrzeniecka S.","Mathonnet G.","Lemyre E.","Massicotte C.","Labuda D.","Amrom D.","Andermann E.","Sebire G.","Maranda B.","Rouleau G.A.","Majewski J.","Michaud J.L."],"citationCrossReferences":[{"database":"PubMed","id":"23012439"},{"database":"DOI","id":"10.1136/jmedgenet-2012-101132"}],"title":"Mutations in TMEM231 cause Joubert syndrome in French Canadians.","publicationDate":"2012","journal":"J. Med. Genet.","firstPage":"636","lastPage":"641","volume":"49"},"referencePositions":["VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568"]},{"referenceNumber":16,"citation":{"id":"22246503","citationType":"journal article","authors":["Lee J.E.","Silhavy J.L.","Zaki M.S.","Schroth J.","Bielas S.L.","Marsh S.E.","Olvera J.","Brancati F.","Iannicelli M.","Ikegami K.","Schlossman A.M.","Merriman B.","Attie-Bitach T.","Logan C.V.","Glass I.A.","Cluckey A.","Louie C.M.","Lee J.H.","Raynes H.R.","Rapin I.","Castroviejo I.P.","Setou M.","Barbot C.","Boltshauser E.","Nelson S.F.","Hildebrandt F.","Johnson C.A.","Doherty D.A.","Valente E.M.","Gleeson J.G."],"citationCrossReferences":[{"database":"PubMed","id":"22246503"},{"database":"DOI","id":"10.1038/ng.1078"}],"title":"CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.","publicationDate":"2012","journal":"Nat. Genet.","firstPage":"193","lastPage":"199","volume":"44"},"referencePositions":["VARIANT JBTS9 ALA-1447"]},{"referenceNumber":17,"citation":{"id":"24706459","citationType":"journal article","authors":["Jones D.","Fiozzo F.","Waters B.","McKnight D.","Brown S."],"citationCrossReferences":[{"database":"PubMed","id":"24706459"},{"database":"DOI","id":"10.1002/uog.13381"}],"title":"First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.","publicationDate":"2014","journal":"Ultrasound Obstet. Gynecol.","firstPage":"719","lastPage":"721","volume":"44"},"referencePositions":["VARIANT MKS6 SER-1517"]},{"referenceNumber":18,"citation":{"id":"26477546","citationType":"journal article","authoringGroup":["Care4Rare Canada Consortium"],"authors":["Srour M.","Hamdan F.F.","McKnight D.","Davis E.","Mandel H.","Schwartzentruber J.","Martin B.","Patry L.","Nassif C.","Dionne-Laporte A.","Ospina L.H.","Lemyre E.","Massicotte C.","Laframboise R.","Maranda B.","Labuda D.","Decarie J.C.","Rypens F.","Goldsher D.","Fallet-Bianco C.","Soucy J.F.","Laberge A.M.","Maftei C.","Boycott K.","Brais B.","Boucher R.M.","Rouleau G.A.","Katsanis N.","Majewski J.","Elpeleg O.","Kukolich M.K.","Shalev S.","Michaud J.L."],"citationCrossReferences":[{"database":"PubMed","id":"26477546"},{"database":"DOI","id":"10.1016/j.ajhg.2015.09.009"}],"title":"Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.","publicationDate":"2015","journal":"Am. J. Hum. Genet.","firstPage":"744","lastPage":"753","volume":"97"},"referencePositions":["VARIANTS JBTS9 LYS-1126; SER-1520; VAL-1556 AND HIS-1568"]},{"referenceNumber":19,"citation":{"id":"30267408","citationType":"journal article","authors":["Mejecase C.","Hummel A.","Mohand-Said S.","Andrieu C.","El Shamieh S.","Antonio A.","Condroyer C.","Boyard F.","Foussard M.","Blanchard S.","Letexier M.","Saraiva J.P.","Sahel J.A.","Zeitz C.","Audo I."],"citationCrossReferences":[{"database":"PubMed","id":"30267408"},{"database":"DOI","id":"10.1111/cge.13453"}],"title":"Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.","publicationDate":"2019","journal":"Clin. Genet.","firstPage":"329","lastPage":"333","volume":"95"},"referencePositions":["INVOLVEMENT IN RP93","VARIANT RP93 PRO-925"]},{"referenceNumber":20,"citation":{"id":"31411728","citationType":"journal article","authors":["Radhakrishnan P.","Nayak S.S.","Shukla A.","Lindstrand A.","Girisha K.M."],"citationCrossReferences":[{"database":"PubMed","id":"31411728"},{"database":"DOI","id":"10.1111/cge.13623"}],"title":"Meckel syndrome: Clinical and mutation profile in six fetuses.","publicationDate":"2019","journal":"Clin. Genet.","firstPage":"560","lastPage":"565","volume":"96"},"referencePositions":["VARIANTS MKS6 VAL-1363 AND GLY-1519"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"EU450799","properties":[{"key":"ProteinId","value":"ACC96081.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB037766","properties":[{"key":"ProteinId","value":"BAA92583.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC007016","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC116651","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471069","properties":[{"key":"ProteinId","value":"EAW92734.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC053865","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC070395","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC103710","properties":[{"key":"ProteinId","value":"AAI03711.1"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK023876","properties":[{"key":"ProteinId","value":"BAB14710.1"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS47026.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9P2K1-4"},{"database":"CCDS","id":"CCDS47027.2","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9P2K1-5"},{"database":"CCDS","id":"CCDS54744.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9P2K1-6"},{"database":"RefSeq","id":"NP_001073991.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001080522.2"}],"isoformId":"Q9P2K1-4"},{"database":"RefSeq","id":"NP_001158192.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001164720.3"}],"isoformId":"Q9P2K1-6"},{"database":"RefSeq","id":"NP_001365544.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001378615.1"}],"isoformId":"Q9P2K1-4"},{"database":"RefSeq","id":"NP_065836.2","properties":[{"key":"NucleotideSequenceId","value":"NM_020785.2"}],"isoformId":"Q9P2K1-5"},{"database":"RefSeq","id":"XP_011512176.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011513874.3"}],"isoformId":"Q9P2K1-6"},{"database":"RefSeq","id":"XP_054206567.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054350592.1"}],"isoformId":"Q9P2K1-6"},{"database":"AlphaFoldDB","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"121603","properties":[{"key":"Interactions","value":"45"}]},{"database":"ComplexPortal","id":"CPX-2531","properties":[{"key":"EntryName","value":"MKS transition zone complex"}]},{"database":"CORUM","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q9P2K1","properties":[{"key":"Number of interactors","value":"182"}]},{"database":"IntAct","id":"Q9P2K1","properties":[{"key":"Interactions","value":"38"}]},{"database":"NDEx","id":"IQUERY-CP-CC2D2A","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000403465","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q9P2K1","properties":[{"key":"glycosylation","value":"3 sites, 1 O-linked glycan (2 sites)"}]},{"database":"iPTMnet","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"CC2D2A","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"229462975","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000403465","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"13547","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"17269","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"83826","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9P2K1-4"},{"database":"ProteomicsDB","id":"83827","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9P2K1-2"},{"database":"Pumba","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"50288","properties":[{"key":"antibodies","value":"29 antibodies from 15 providers"}]},{"database":"DNASU","id":"57545","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000424120.6","properties":[{"key":"ProteinId","value":"ENSP00000403465.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-4"},{"database":"Ensembl","id":"ENST00000503292.6","properties":[{"key":"ProteinId","value":"ENSP00000421809.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-4"},{"database":"Ensembl","id":"ENST00000503658.2","properties":[{"key":"ProteinId","value":"ENSP00000426846.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-5"},{"database":"Ensembl","id":"ENST00000507954.5","properties":[{"key":"ProteinId","value":"ENSP00000427221.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-6"},{"database":"Ensembl","id":"ENST00000515124.6","properties":[{"key":"ProteinId","value":"ENSP00000424368.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-6"},{"database":"Ensembl","id":"ENST00000674945.1","properties":[{"key":"ProteinId","value":"ENSP00000502333.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-2"},{"database":"Ensembl","id":"ENST00000860661.1","properties":[{"key":"ProteinId","value":"ENSP00000530720.1"},{"key":"GeneId","value":"ENSG00000048342.19"}],"isoformId":"Q9P2K1-4"},{"database":"GeneID","id":"57545","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:57545","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000424120.6","properties":[{"key":"ProteinId","value":"ENSP00000403465.1"},{"key":"RefSeqNucleotideId","value":"NM_001378615.1"},{"key":"RefSeqProteinId","value":"NP_001365544.1"}]},{"database":"UCSC","id":"uc003gnq.5","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q9P2K1-4"},{"database":"AGR","id":"HGNC:29253","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA162381194","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"57545","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"57545","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"CC2D2A","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"CC2D2A","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:29253","properties":[{"key":"GeneName","value":"CC2D2A"}]},{"database":"HPA","id":"ENSG00000048342","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (retina)"}]},{"database":"MalaCards","id":"CC2D2A","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"612013","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"612284","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"612285","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"619111","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"619845","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000048342","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"1454","properties":[{"key":"Disease","value":"Joubert syndrome with hepatic defect"}]},{"database":"Orphanet","id":"2318","properties":[{"key":"Disease","value":"Joubert syndrome with oculorenal defect"}]},{"database":"Orphanet","id":"564","properties":[{"key":"Disease","value":"Meckel syndrome"}]},{"database":"Orphanet","id":"791","properties":[{"key":"Disease","value":"Retinitis pigmentosa"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000048342","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3639","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000155482","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_164860_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NADNIWF","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"2162143at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9P2K1","properties":[{"key":"Number of GO annotations","value":"3 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-5620912","properties":[{"key":"PathwayName","value":"Anchoring of the basal body to the plasma membrane"}]},{"database":"SignaLink","id":"Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000048342","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"57545","properties":[{"key":"hits","value":"9 hits in 1148 CRISPR screens"}]},{"database":"ChiTaRS","id":"CC2D2A","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"CC2D2A","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"57545","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9P2K1","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9P2K1","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 4"}]},{"database":"RNAct","id":"Q9P2K1","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000048342","properties":[{"key":"ExpressionPatterns","value":"Expressed in right uterine tube and 172 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q9P2K1","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0035869","properties":[{"key":"GoTerm","value":"C:ciliary transition zone"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0036038","properties":[{"key":"GoTerm","value":"C:MKS complex"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0060271","properties":[{"key":"GoTerm","value":"P:cilium assembly"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:1905515","properties":[{"key":"GoTerm","value":"P:non-motile cilium assembly"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:1904491","properties":[{"key":"GoTerm","value":"P:protein localization to ciliary transition zone"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0007224","properties":[{"key":"GoTerm","value":"P:smoothened signaling pathway"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"Gene3D","id":"2.60.40.150","properties":[{"key":"EntryName","value":"C2 domain"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000008","properties":[{"key":"EntryName","value":"C2_dom"}]},{"database":"InterPro","id":"IPR035892","properties":[{"key":"EntryName","value":"C2_domain_sf"}]},{"database":"InterPro","id":"IPR028928","properties":[{"key":"EntryName","value":"CC2D2AN-C2"}]},{"database":"InterPro","id":"IPR056288","properties":[{"key":"EntryName","value":"CEP76_C"}]},{"database":"InterPro","id":"IPR056290","properties":[{"key":"EntryName","value":"CEPT76/DRC7_peptidase-like_dom"}]},{"database":"InterPro","id":"IPR041510","properties":[{"key":"EntryName","value":"DUF5523"}]},{"database":"InterPro","id":"IPR052434","properties":[{"key":"EntryName","value":"Tectonic-like_complex_comp"}]},{"database":"PANTHER","id":"PTHR20837","properties":[{"key":"EntryName","value":"CENTROSOMAL PROTEIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR20837:SF7","properties":[{"key":"EntryName","value":"COILED-COIL AND C2 DOMAIN-CONTAINING PROTEIN 2A"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF15625","properties":[{"key":"EntryName","value":"CC2D2AN-C2"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF24652","properties":[{"key":"EntryName","value":"CEP76_C"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF24656","properties":[{"key":"EntryName","value":"CEPT76_peptidase"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF17661","properties":[{"key":"EntryName","value":"DUF5523"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00239","properties":[{"key":"EntryName","value":"C2"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50004","properties":[{"key":"EntryName","value":"C2"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNPQEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALLQEIPTPRPRRLRSPSKKELETEFGTEPGKEVERTQQEVDSQSYSRVKFHDSARKIKPKPQVPPGFPSAEEAYNFFTFNFDPEPEGSEEKPKARHRAGTNQEEEEGEEEEPPAQGGGKEMDEEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQMEREMLFIPSRQTVPTYKKLPENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRILALPNPIKPFPSRPPVLTQEQSIKAELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPCFSREHVLAAKLAQLYDQYLARHQRNKAKFLTDKLQALRNAVQTGLDPEKPHQSLDTIQKTINEYKSEIRQTRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRFTNTPLKLVLRKEKADQKADEEAYEAEIQAEISELLEEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAEEHPGDEIAEPYPEEDLVKPSPPEPTDRAVIEQEVRERAAQSRRRPWEPTLVPELSLAGSVTPNDQCPRAEVSRREDVKKRSVYLKVLFNNKEVSRTVSRPLGADFRVHFGQIFNLQIVNWPESLTLQVYETVGHSSPTLLAEVFLPIPETTVVTGRAPTEEVEFSSNQHVTLDHEGVGSGVPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNIGFRSALKKADAISSIGTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFVSDQELNRSKRFRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEHIDTHRAIVAKYLQQVRESVINRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRPLRPRRKGRKKVTAQNLSDGDIKLLVNIVRAYDIPVRKPAVSKFQQPSRSSRMFSEKHAASPSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGPNPSWNEELELPFRAPNGDYSTASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPFSTIYFQARIDGTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFESQEDEKLLQATEKFQAECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNNLQATAELVARYVSLIPFLPDTVSFGGICDLWSTSDQFLDLLAGDEEEHAVLLCNYFLSLGKKAWLLMGNAIPEGPTAYVLTWEQGRYLIWNPCSGHFYGQFDTFCPLKNVGCLIGPDNIWFNIQRYESPLRINFDVTRPKLWKSFFSRSLPYPGLSSVQPEELIYQRSDKAAAAELQDRIEKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGEDVEDDHRAELLKQLGDYRFSGFPLHMPYSEVKPLIDAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVWIYVASLIRNR","length":1620,"molWeight":186185,"crc64":"1AF2635A40B3EF4A","md5":"E68FB0CDF2967C9139A13884E810606B"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":4,"TISSUE SPECIFICITY":1,"DEVELOPMENTAL STAGE":1,"DISEASE":4,"SEQUENCE CAUTION":3},"countByFeatureType":{"Chain":1,"Domain":1,"Region":3,"Coiled coil":2,"Compositional bias":6,"Alternative sequence":6,"Natural variant":31,"Sequence conflict":1},"uniParcId":"UPI000023731A"}}