{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P51816","secondaryAccessions":["A2RTY4","B4DXD5","B7WNQ1","B7ZLD6","B7ZLD9","O43786","O60215","P78407","Q13521","Q14323","Q7Z2F7","Q7Z400","Q9UNA5"],"uniProtkbId":"AFF2_HUMAN","entryAudit":{"firstPublicDate":"1996-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2006-10-17","entryVersion":189,"sequenceVersion":4},"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":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:3776"}],"value":"AF4/FMR2 family member 2"}},"alternativeNames":[{"fullName":{"value":"Protein FMR-2"},"shortNames":[{"value":"FMR2P"}]},{"fullName":{"value":"Protein Ox19"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:3776"}],"value":"AFF2"},"synonyms":[{"value":"FMR2"},{"value":"OX19"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19136466"}],"value":"RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure"}],"commentType":"FUNCTION"},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"value":"When splicing is inhibited, accumulates in enlarged speckles"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19136466"}],"value":"Nucleus speckle","id":"SL-0186"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P51816-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P51816-2"],"sequenceIds":["VSP_000211","VSP_000212","VSP_000213"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["P51816-3"],"sequenceIds":["VSP_000211","VSP_000212","VSP_000216"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["P51816-4"],"sequenceIds":["VSP_000211","VSP_000212","VSP_000213","VSP_000214","VSP_000215"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["P51816-5"],"sequenceIds":["VSP_000211","VSP_000213"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["P51816-6"],"sequenceIds":["VSP_000212","VSP_000213"],"isoformSequenceStatus":"Described"},{"name":{"value":"7"},"isoformIds":["P51816-7"],"sequenceIds":["VSP_043237","VSP_043238"],"isoformSequenceStatus":"Described"}],"note":{"texts":[{"value":"Additional isoforms seem to exist."}]}},{"texts":[{"value":"Brain (most abundant in hippocampus and amygdala), placenta and lung"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Intellectual developmental disorder, X-linked 109","diseaseAccession":"DI-01629","acronym":"XLID109","description":"A form of mild to moderate intellectual disability associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.","diseaseCrossReference":{"database":"MIM","id":"309548"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19136466"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21739600"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the AF4 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1311,"modifier":"EXACT"}},"description":"AF4/FMR2 family member 2","featureId":"PRO_0000215912"},{"type":"Region","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":187,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":204,"modifier":"EXACT"},"end":{"value":229,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":457,"modifier":"EXACT"},"end":{"value":530,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":574,"modifier":"EXACT"},"end":{"value":726,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":818,"modifier":"EXACT"},"end":{"value":867,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":881,"modifier":"EXACT"},"end":{"value":943,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":111,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":155,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":165,"modifier":"EXACT"},"end":{"value":187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":396,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":465,"modifier":"EXACT"},"end":{"value":477,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":491,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":582,"modifier":"EXACT"},"end":{"value":597,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":615,"modifier":"EXACT"},"end":{"value":625,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":655,"modifier":"EXACT"},"end":{"value":668,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":669,"modifier":"EXACT"},"end":{"value":679,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":857,"modifier":"EXACT"},"end":{"value":867,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":883,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":913,"modifier":"EXACT"},"end":{"value":922,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":430,"modifier":"EXACT"},"end":{"value":430,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"}]},{"type":"Modified residue","location":{"start":{"value":517,"modifier":"EXACT"},"end":{"value":517,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"in isoform 7","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043237","alternativeSequence":{"originalSequence":"MDLFDFFRDWDLEQQCHYEQDRSALKKREWER","alternativeSequences":["MKFKRRHQAFPSFFKMKVSLPSDPSCVEEILR"]}},{"type":"Alternative sequence","location":{"start":{"value":33,"modifier":"EXACT"},"end":{"value":391,"modifier":"EXACT"}},"description":"in isoform 7","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_043238","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":57,"modifier":"EXACT"},"end":{"value":60,"modifier":"EXACT"}},"description":"in isoform 2, isoform 3, isoform 4 and isoform 5","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12777533"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8673086"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8824884"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9467002"}],"featureId":"VSP_000211","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":364,"modifier":"EXACT"},"end":{"value":392,"modifier":"EXACT"}},"description":"in isoform 2, isoform 3, isoform 4 and isoform 6","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12777533"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8673086"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8824884"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9467002"}],"featureId":"VSP_000212","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":416,"modifier":"EXACT"},"end":{"value":421,"modifier":"EXACT"}},"description":"in isoform 2, isoform 4, isoform 5 and isoform 6","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12777533"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8824884"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9467002"}],"featureId":"VSP_000213","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":466,"modifier":"EXACT"},"end":{"value":466,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8824884"}],"featureId":"VSP_000214","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Alternative sequence","location":{"start":{"value":467,"modifier":"EXACT"},"end":{"value":1311,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8824884"}],"featureId":"VSP_000215","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":970,"modifier":"EXACT"},"end":{"value":971,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8673086"}],"featureId":"VSP_000216","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":1185,"modifier":"EXACT"},"end":{"value":1185,"modifier":"EXACT"}},"description":"in dbSNP:rs12858959","featureCrossReferences":[{"database":"dbSNP","id":"rs12858959"}],"featureId":"VAR_028217","alternativeSequence":{"originalSequence":"L","alternativeSequences":["M"]}},{"type":"Sequence conflict","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":195,"modifier":"EXACT"}},"description":"in Ref. 3; CAA64730","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":470,"modifier":"EXACT"},"end":{"value":470,"modifier":"EXACT"}},"description":"in Ref. 2; AAA99416","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Sequence conflict","location":{"start":{"value":548,"modifier":"EXACT"},"end":{"value":548,"modifier":"EXACT"}},"description":"in Ref. 1; AAC82513, 2; AAA99416 and 4; AAB71534","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Sequence conflict","location":{"start":{"value":1043,"modifier":"EXACT"},"end":{"value":1043,"modifier":"EXACT"}},"description":"in Ref. 10; AAI32684/AAI43741/AAI43745","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0507","category":"Biological process","name":"mRNA processing"},{"id":"KW-0508","category":"Biological process","name":"mRNA splicing"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0694","category":"Molecular function","name":"RNA-binding"},{"id":"KW-0818","category":"Coding sequence diversity","name":"Triplet repeat expansion"}],"references":[{"referenceNumber":1,"citation":{"id":"8673085","citationType":"journal article","authors":["Gecz J.","Gedeon A.K.","Sutherland G.R.","Mulley J.C."],"citationCrossReferences":[{"database":"PubMed","id":"8673085"},{"database":"DOI","id":"10.1038/ng0596-105"}],"title":"Identification of the gene FMR2, associated with FRAXE mental retardation.","publicationDate":"1996","journal":"Nat. Genet.","firstPage":"105","lastPage":"108","volume":"13"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Fetal brain","type":"TISSUE"},{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"8673086","citationType":"journal article","authors":["Gu Y.","Shen Y.","Gibbs R.A.","Nelson D.L."],"citationCrossReferences":[{"database":"PubMed","id":"8673086"},{"database":"DOI","id":"10.1038/ng0596-109"}],"title":"Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.","publicationDate":"1996","journal":"Nat. Genet.","firstPage":"109","lastPage":"113","volume":"13"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"8824884","citationType":"journal article","authors":["Chakrabarti L.","Knight S.J.L.","Flannery A.V.","Davies K.E."],"citationCrossReferences":[{"database":"PubMed","id":"8824884"},{"database":"DOI","id":"10.1093/hmg/5.2.275"}],"title":"A candidate gene for mild mental handicap at the FRAXE fragile site.","publicationDate":"1996","journal":"Hum. Mol. Genet.","firstPage":"275","lastPage":"282","volume":"5"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4)"],"referenceComments":[{"value":"Fetal brain","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"9299237","citationType":"journal article","authors":["Gecz J.","Bielby S.","Sutherland G.R.","Mulley J.C."],"citationCrossReferences":[{"database":"PubMed","id":"9299237"},{"database":"DOI","id":"10.1006/geno.1997.4867"}],"title":"Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.","publicationDate":"1997","journal":"Genomics","firstPage":"201","lastPage":"213","volume":"44"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)"]},{"referenceNumber":5,"citation":{"id":"9467002","citationType":"journal article","authors":["Chakrabarti L.","Bristulf J.","Foss G.S.","Davies K.E."],"citationCrossReferences":[{"database":"PubMed","id":"9467002"},{"database":"DOI","id":"10.1093/hmg/7.3.441"}],"title":"Expression of the murine homologue of FMR2 in mouse brain and during development.","publicationDate":"1998","journal":"Hum. Mol. Genet.","firstPage":"441","lastPage":"448","volume":"7"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"12777533","citationType":"journal article","authors":["Kitano T.","Schwarz C.","Nickel B.","Paeaebo S."],"citationCrossReferences":[{"database":"PubMed","id":"12777533"},{"database":"DOI","id":"10.1093/molbev/msg134"}],"title":"Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.","publicationDate":"2003","journal":"Mol. Biol. Evol.","firstPage":"1281","lastPage":"1289","volume":"20"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)","NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 526-896"]},{"referenceNumber":7,"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] (ISOFORM 7)"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"15772651","citationType":"journal article","authors":["Ross M.T.","Grafham D.V.","Coffey A.J.","Scherer S.","McLay K.","Muzny D.","Platzer M.","Howell G.R.","Burrows C.","Bird C.P.","Frankish A.","Lovell F.L.","Howe K.L.","Ashurst J.L.","Fulton R.S.","Sudbrak R.","Wen G.","Jones M.C.","Hurles M.E.","Andrews T.D.","Scott C.E.","Searle S.","Ramser J.","Whittaker A.","Deadman R.","Carter N.P.","Hunt S.E.","Chen R.","Cree A.","Gunaratne P.","Havlak P.","Hodgson A.","Metzker M.L.","Richards S.","Scott G.","Steffen D.","Sodergren E.","Wheeler D.A.","Worley K.C.","Ainscough R.","Ambrose K.D.","Ansari-Lari M.A.","Aradhya S.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Ballabio A.","Banerjee R.","Barker G.E.","Barlow K.F.","Barrett I.P.","Bates K.N.","Beare D.M.","Beasley H.","Beasley O.","Beck A.","Bethel G.","Blechschmidt K.","Brady N.","Bray-Allen S.","Bridgeman A.M.","Brown A.J.","Brown M.J.","Bonnin D.","Bruford E.A.","Buhay C.","Burch P.","Burford D.","Burgess J.","Burrill W.","Burton J.","Bye J.M.","Carder C.","Carrel L.","Chako J.","Chapman J.C.","Chavez D.","Chen E.","Chen G.","Chen Y.","Chen Z.","Chinault C.","Ciccodicola A.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.","Clerc-Blankenburg K.","Clifford K.","Cobley V.","Cole C.G.","Conquer J.S.","Corby N.","Connor R.E.","David R.","Davies J.","Davis C.","Davis J.","Delgado O.","Deshazo D.","Dhami P.","Ding Y.","Dinh H.","Dodsworth S.","Draper H.","Dugan-Rocha S.","Dunham A.","Dunn M.","Durbin K.J.","Dutta I.","Eades T.","Ellwood M.","Emery-Cohen A.","Errington H.","Evans K.L.","Faulkner L.","Francis F.","Frankland J.","Fraser A.E.","Galgoczy P.","Gilbert J.","Gill R.","Gloeckner G.","Gregory S.G.","Gribble S.","Griffiths C.","Grocock R.","Gu Y.","Gwilliam R.","Hamilton C.","Hart E.A.","Hawes A.","Heath P.D.","Heitmann K.","Hennig S.","Hernandez J.","Hinzmann B.","Ho S.","Hoffs M.","Howden P.J.","Huckle E.J.","Hume J.","Hunt P.J.","Hunt A.R.","Isherwood J.","Jacob L.","Johnson D.","Jones S.","de Jong P.J.","Joseph S.S.","Keenan S.","Kelly S.","Kershaw J.K.","Khan Z.","Kioschis P.","Klages S.","Knights A.J.","Kosiura A.","Kovar-Smith C.","Laird G.K.","Langford C.","Lawlor S.","Leversha M.","Lewis L.","Liu W.","Lloyd C.","Lloyd D.M.","Loulseged H.","Loveland J.E.","Lovell J.D.","Lozado R.","Lu J.","Lyne R.","Ma J.","Maheshwari M.","Matthews L.H.","McDowall J.","McLaren S.","McMurray A.","Meidl P.","Meitinger T.","Milne S.","Miner G.","Mistry S.L.","Morgan M.","Morris S.","Mueller I.","Mullikin J.C.","Nguyen N.","Nordsiek G.","Nyakatura G.","O'dell C.N.","Okwuonu G.","Palmer S.","Pandian R.","Parker D.","Parrish J.","Pasternak S.","Patel D.","Pearce A.V.","Pearson D.M.","Pelan S.E.","Perez L.","Porter K.M.","Ramsey Y.","Reichwald K.","Rhodes S.","Ridler K.A.","Schlessinger D.","Schueler M.G.","Sehra H.K.","Shaw-Smith C.","Shen H.","Sheridan E.M.","Shownkeen R.","Skuce C.D.","Smith M.L.","Sotheran E.C.","Steingruber H.E.","Steward C.A.","Storey R.","Swann R.M.","Swarbreck D.","Tabor P.E.","Taudien S.","Taylor T.","Teague B.","Thomas K.","Thorpe A.","Timms K.","Tracey A.","Trevanion S.","Tromans A.C.","d'Urso M.","Verduzco D.","Villasana D.","Waldron L.","Wall M.","Wang Q.","Warren J.","Warry G.L.","Wei X.","West A.","Whitehead S.L.","Whiteley M.N.","Wilkinson J.E.","Willey D.L.","Williams G.","Williams L.","Williamson A.","Williamson H.","Wilming L.","Woodmansey R.L.","Wray P.W.","Yen J.","Zhang J.","Zhou J.","Zoghbi H.","Zorilla S.","Buck D.","Reinhardt R.","Poustka A.","Rosenthal A.","Lehrach H.","Meindl A.","Minx P.J.","Hillier L.W.","Willard H.F.","Wilson R.K.","Waterston R.H.","Rice C.M.","Vaudin M.","Coulson A.","Nelson D.L.","Weinstock G.","Sulston J.E.","Durbin R.M.","Hubbard T.","Gibbs R.A.","Beck S.","Rogers J.","Bentley D.R."],"citationCrossReferences":[{"database":"PubMed","id":"15772651"},{"database":"DOI","id":"10.1038/nature03440"}],"title":"The DNA sequence of the human X chromosome.","publicationDate":"2005","journal":"Nature","firstPage":"325","lastPage":"337","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":9,"citation":{"id":"CI-5GBD0VIIJ7C63","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":"SEP-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":10,"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 2; 5 AND 6)"],"referenceComments":[{"value":"Cerebellum","type":"TISSUE"}]},{"referenceNumber":11,"citation":{"id":"CI-FKBBGPLMBOBOR","citationType":"submission","authors":["Wang L.","Thibodeau S.N."],"publicationDate":"APR-1999","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 348-421 (ISOFORM 1)"]},{"referenceNumber":12,"citation":{"id":"19136466","citationType":"journal article","authors":["Bensaid M.","Melko M.","Bechara E.G.","Davidovic L.","Berretta A.","Catania M.V.","Gecz J.","Lalli E.","Bardoni B."],"citationCrossReferences":[{"database":"PubMed","id":"19136466"},{"database":"DOI","id":"10.1093/nar/gkn1058"}],"title":"FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.","publicationDate":"2009","journal":"Nucleic Acids Res.","firstPage":"1269","lastPage":"1279","volume":"37"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INVOLVEMENT IN XLID109"]},{"referenceNumber":13,"citation":{"id":"19690332","citationType":"journal article","authors":["Mayya V.","Lundgren D.H.","Hwang S.-I.","Rezaul K.","Wu L.","Eng J.K.","Rodionov V.","Han D.K."],"citationCrossReferences":[{"database":"PubMed","id":"19690332"},{"database":"DOI","id":"10.1126/scisignal.2000007"}],"title":"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.","publicationDate":"2009","journal":"Sci. Signal.","firstPage":"RA46","lastPage":"RA46","volume":"2"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-430 AND THR-517","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":14,"citation":{"id":"21739600","citationType":"journal article","authors":["Stettner G.M.","Shoukier M.","Hoger C.","Brockmann K.","Auber B."],"citationCrossReferences":[{"database":"PubMed","id":"21739600"},{"database":"DOI","id":"10.1002/ajmg.a.34122"}],"title":"Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.","publicationDate":"2011","journal":"Am. J. Med. Genet. A","firstPage":"2003","lastPage":"2007","volume":"155"},"referencePositions":["INVOLVEMENT IN XLID109"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"U48436","properties":[{"key":"ProteinId","value":"AAC82513.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"L76569","properties":[{"key":"ProteinId","value":"AAA99416.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"X95463","properties":[{"key":"ProteinId","value":"CAA64730.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF012624","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012603","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012604","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012605","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012606","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012607","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012608","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012609","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012610","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012611","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012612","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012613","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012614","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012615","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012616","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012617","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012618","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012619","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012620","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012621","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012622","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF012623","properties":[{"key":"ProteinId","value":"AAB71534.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ001550","properties":[{"key":"ProteinId","value":"CAA04822.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB102644","properties":[{"key":"ProteinId","value":"BAC81113.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB101711","properties":[{"key":"ProteinId","value":"BAC80300.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101712","properties":[{"key":"ProteinId","value":"BAC80301.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101713","properties":[{"key":"ProteinId","value":"BAC80302.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101714","properties":[{"key":"ProteinId","value":"BAC80303.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101715","properties":[{"key":"ProteinId","value":"BAC80304.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101716","properties":[{"key":"ProteinId","value":"BAC80305.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101717","properties":[{"key":"ProteinId","value":"BAC80306.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101718","properties":[{"key":"ProteinId","value":"BAC80307.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101719","properties":[{"key":"ProteinId","value":"BAC80308.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101720","properties":[{"key":"ProteinId","value":"BAC80309.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101721","properties":[{"key":"ProteinId","value":"BAC80310.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101722","properties":[{"key":"ProteinId","value":"BAC80311.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101723","properties":[{"key":"ProteinId","value":"BAC80312.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101724","properties":[{"key":"ProteinId","value":"BAC80313.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101725","properties":[{"key":"ProteinId","value":"BAC80314.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101726","properties":[{"key":"ProteinId","value":"BAC80315.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101727","properties":[{"key":"ProteinId","value":"BAC80316.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101728","properties":[{"key":"ProteinId","value":"BAC80317.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101729","properties":[{"key":"ProteinId","value":"BAC80318.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AB101730","properties":[{"key":"ProteinId","value":"BAC80319.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AK301927","properties":[{"key":"ProteinId","value":"BAG63347.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC002368","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC005731","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC006516","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC015552","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC231841","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471171","properties":[{"key":"ProteinId","value":"EAW61288.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC132683","properties":[{"key":"ProteinId","value":"AAI32684.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC143740","properties":[{"key":"ProteinId","value":"AAI43741.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC143744","properties":[{"key":"ProteinId","value":"AAI43745.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AH008014","properties":[{"key":"ProteinId","value":"AAD45878.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"CCDS","id":"CCDS14684.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-1"},{"database":"CCDS","id":"CCDS55521.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-7"},{"database":"CCDS","id":"CCDS76040.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-6"},{"database":"CCDS","id":"CCDS78510.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-3"},{"database":"RefSeq","id":"NP_001162593.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001169122.2"}],"isoformId":"P51816-3"},{"database":"RefSeq","id":"NP_001162594.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001169123.2"}],"isoformId":"P51816-5"},{"database":"RefSeq","id":"NP_001162595.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001169124.2"}],"isoformId":"P51816-6"},{"database":"RefSeq","id":"NP_001162596.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001169125.2"}],"isoformId":"P51816-2"},{"database":"RefSeq","id":"NP_001164099.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001170628.1"}],"isoformId":"P51816-7"},{"database":"RefSeq","id":"NP_002016.2","properties":[{"key":"NucleotideSequenceId","value":"NM_002025.4"}],"isoformId":"P51816-1"},{"database":"AlphaFoldDB","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"108620","properties":[{"key":"Interactions","value":"9"}]},{"database":"FunCoup","id":"P51816","properties":[{"key":"Number of interactors","value":"168"}]},{"database":"IntAct","id":"P51816","properties":[{"key":"Interactions","value":"8"}]},{"database":"STRING","id":"9606.ENSP00000359489","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL5724735","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"P51816","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"AFF2","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"116241242","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000359489","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"56419","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-1"},{"database":"ProteomicsDB","id":"56420","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-2"},{"database":"ProteomicsDB","id":"56421","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-3"},{"database":"ProteomicsDB","id":"56422","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-4"},{"database":"ProteomicsDB","id":"56423","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-5"},{"database":"ProteomicsDB","id":"56424","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-6"},{"database":"ProteomicsDB","id":"56425","properties":[{"key":"Description","value":"-"}],"isoformId":"P51816-7"},{"database":"Antibodypedia","id":"529","properties":[{"key":"antibodies","value":"151 antibodies from 23 providers"}]},{"database":"DNASU","id":"2334","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000286437.7","properties":[{"key":"ProteinId","value":"ENSP00000286437.5"},{"key":"GeneId","value":"ENSG00000155966.14"}],"isoformId":"P51816-7"},{"database":"Ensembl","id":"ENST00000342251.7","properties":[{"key":"ProteinId","value":"ENSP00000345459.4"},{"key":"GeneId","value":"ENSG00000155966.14"}],"isoformId":"P51816-3"},{"database":"Ensembl","id":"ENST00000370457.9","properties":[{"key":"ProteinId","value":"ENSP00000359486.6"},{"key":"GeneId","value":"ENSG00000155966.14"}],"isoformId":"P51816-6"},{"database":"Ensembl","id":"ENST00000370458.5","properties":[{"key":"ProteinId","value":"ENSP00000359487.1"},{"key":"GeneId","value":"ENSG00000155966.14"}],"isoformId":"P51816-4"},{"database":"Ensembl","id":"ENST00000370460.7","properties":[{"key":"ProteinId","value":"ENSP00000359489.2"},{"key":"GeneId","value":"ENSG00000155966.14"}],"isoformId":"P51816-1"},{"database":"GeneID","id":"2334","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:2334","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000370460.7","properties":[{"key":"ProteinId","value":"ENSP00000359489.2"},{"key":"RefSeqNucleotideId","value":"NM_002025.4"},{"key":"RefSeqProteinId","value":"NP_002016.2"}]},{"database":"UCSC","id":"uc004fco.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"P51816-1"},{"database":"AGR","id":"HGNC:3776","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA28192","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"2334","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"2334","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"AFF2","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:3776","properties":[{"key":"GeneName","value":"AFF2"}]},{"database":"HPA","id":"ENSG00000155966","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (bone marrow, epididymis, placenta)"}]},{"database":"MalaCards","id":"AFF2","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"300806","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"309548","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000155966","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"100973","properties":[{"key":"Disease","value":"FRAXE intellectual disability"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000155966","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QUIB","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00950000182974","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_006484_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"SMELPDP","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6382204at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P51816","properties":[{"key":"Number of GO annotations","value":"6 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P51816","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000155966","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"2334","properties":[{"key":"hits","value":"16 hits in 766 CRISPR screens"}]},{"database":"CD-CODE","id":"804901D1","properties":[{"key":"EntryName","value":"Nuclear speckle"}]},{"database":"ChiTaRS","id":"AFF2","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"AFF2","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"2334","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P51816","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:P51816","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome X"}]},{"database":"RNAct","id":"P51816","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000155966","properties":[{"key":"ExpressionPatterns","value":"Expressed in cortical plate and 121 other cell types or tissues"}]},{"database":"GO","id":"GO:0016607","properties":[{"key":"GoTerm","value":"C:nuclear speck"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19136466"}]},{"database":"GO","id":"GO:0002151","properties":[{"key":"GoTerm","value":"F:G-quadruplex RNA binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0003712","properties":[{"key":"GoTerm","value":"F:transcription coregulator activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0007420","properties":[{"key":"GoTerm","value":"P:brain development"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"8673086"}]},{"database":"GO","id":"GO:0006354","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription elongation"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0050877","properties":[{"key":"GoTerm","value":"P:nervous system process"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0035063","properties":[{"key":"GoTerm","value":"P:nuclear speck organization"},{"key":"GoEvidenceType","value":"IMP:MGI"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23562910"}]},{"database":"GO","id":"GO:0006355","properties":[{"key":"GoTerm","value":"P:regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0010468","properties":[{"key":"GoTerm","value":"P:regulation of gene expression"},{"key":"GoEvidenceType","value":"IMP:MGI"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23562910"}]},{"database":"GO","id":"GO:0043484","properties":[{"key":"GoTerm","value":"P:regulation of RNA splicing"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19136466"}]},{"database":"Gene3D","id":"6.10.250.2670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR007797","properties":[{"key":"EntryName","value":"AF4/FMR2"}]},{"database":"InterPro","id":"IPR043640","properties":[{"key":"EntryName","value":"AF4/FMR2_CHD"}]},{"database":"InterPro","id":"IPR043639","properties":[{"key":"EntryName","value":"AF4_int"}]},{"database":"PANTHER","id":"PTHR10528","properties":[{"key":"EntryName","value":"AF4/FMR2 FAMILY MEMBER"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10528:SF18","properties":[{"key":"EntryName","value":"AF4_FMR2 FAMILY MEMBER 2"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF05110","properties":[{"key":"EntryName","value":"AF-4"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF18875","properties":[{"key":"EntryName","value":"AF4_int"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF18876","properties":[{"key":"EntryName","value":"AFF4_CHD"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEYTNKGDALANRVQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKNRIIPPHQDNTHPSAPMPPPSVVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNKMQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSSGEDAFKEIFQSNSPEESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPDISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEILREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFKSMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQNKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRPTQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTAVTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNSSRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIPSPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHWDMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL","length":1311,"molWeight":144771,"crc64":"B5310BC074F893CB","md5":"7386C7B6E7B2CF60D1EA630AB9B392DF"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":7,"TISSUE SPECIFICITY":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Region":7,"Compositional bias":14,"Modified residue":2,"Alternative sequence":8,"Natural variant":1,"Sequence conflict":4},"uniParcId":"UPI000049E130"}}]}