{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P15923","secondaryAccessions":["P15883","Q14208","Q14635","Q14636","Q2TB39","Q2TB40","Q9UPI9"],"uniProtkbId":"TFE2_HUMAN","entryAudit":{"firstPublicDate":"1990-04-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1990-04-01","entryVersion":259,"sequenceVersion":1},"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":"Transcription factor E2-alpha"}},"alternativeNames":[{"fullName":{"value":"Class B basic helix-loop-helix protein 21"},"shortNames":[{"value":"bHLHb21"}]},{"fullName":{"value":"Immunoglobulin enhancer-binding factor E12/E47"}},{"fullName":{"value":"Immunoglobulin transcription factor 1"}},{"fullName":{"value":"Kappa-E2-binding factor"}},{"fullName":{"value":"Transcription factor 3"},"shortNames":[{"value":"TCF-3"}]},{"fullName":{"value":"Transcription factor ITF-1"}}]},"genes":[{"geneName":{"value":"TCF3"},"synonyms":[{"value":"BHLHB21"},{"value":"E2A"},{"value":"ITF1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15806"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2493990"}],"value":"Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition (By similarity). Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation (By similarity). Together with TCF15, required for the mesenchymal to epithelial transition (By similarity). Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31696227"}],"value":"Facilitates ATOH7 binding to DNA at the consensus sequence 5'-CAGGTG-3', and positively regulates transcriptional activity"}],"commentType":"FUNCTION","molecule":"Isoform E47"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15806"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14752053"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21119685"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2112746"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25466284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9409784"}],"value":"Homodimer (PubMed:14752053, PubMed:2112746). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein (By similarity). Forms a heterodimer with ASH1, TWIST1 and TWIST2 (By similarity). Forms a heterodimer with MYOG; heterodimerization enhances MYOG DNA-binding and transcriptional activities (By similarity). Forms a heterodimer with NEUROD1; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element (PubMed:14752053). Forms a heterodimer with TCF15; the heterodimer binds E-box element (By similarity). Forms a heterodimer with ATOH8; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters (By similarity). Component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with NEUROD2, PTF1A and TGFB1I1 (By similarity). Interacts with EP300 and UBE2I (PubMed:14752053, PubMed:9409784). Interacts with BHLHA9 (PubMed:25466284). Interacts with ASB2; the interaction is mediated by SKP2 and targets TCF3 for Notch-induced proteasomal degradation (PubMed:21119685)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31696227"}],"value":"Forms a heterodimer with ATOH7; required for ATOH7 DNA-binding"}],"commentType":"SUBUNIT","molecule":"Isoform E47"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15044608"}],"value":"Interacts with RALGAPA1 and FIGLA"}],"commentType":"SUBUNIT","molecule":"Isoform E12"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"P50553","geneName":"ASCL1","intActId":"EBI-957042"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"O75593","geneName":"FOXH1","intActId":"EBI-1759806"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"Q02363","geneName":"ID2","intActId":"EBI-713450"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"Q02535","geneName":"ID3","intActId":"EBI-1387094"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"P17542","geneName":"TAL1","intActId":"EBI-1753878"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923","intActId":"EBI-769630"},"interactantTwo":{"uniProtKBAccession":"Q9Y4C2","geneName":"TCAF1","intActId":"EBI-750484"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-1","intActId":"EBI-769645"},"interactantTwo":{"uniProtKBAccession":"O95273","geneName":"CCNDBP1","intActId":"EBI-748961"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-1","intActId":"EBI-769645"},"interactantTwo":{"uniProtKBAccession":"Q02363","geneName":"ID2","intActId":"EBI-713450"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-1","intActId":"EBI-769645"},"interactantTwo":{"uniProtKBAccession":"P15172","geneName":"MYOD1","intActId":"EBI-488878"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-1","intActId":"EBI-769645"},"interactantTwo":{"uniProtKBAccession":"O00233","geneName":"PSMD9","intActId":"EBI-750973"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-1","intActId":"EBI-769645"},"interactantTwo":{"uniProtKBAccession":"Q15672","geneName":"TWIST1","intActId":"EBI-1797287"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"Q9NQ33","geneName":"ASCL3","intActId":"EBI-12108222"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"P13637","geneName":"ATP1A3","intActId":"EBI-948169"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"O96004","geneName":"HAND1","intActId":"EBI-11320290"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"P41134","geneName":"ID1","intActId":"EBI-1215527"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"Q02535","geneName":"ID3","intActId":"EBI-1387094"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"P16284","geneName":"PECAM1","intActId":"EBI-716404"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"Q13393","geneName":"PLD1","intActId":"EBI-2827556"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"P20339","geneName":"RAB5A","intActId":"EBI-399437"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"Q9Y4C2-2","geneName":"TCAF1","intActId":"EBI-11974855"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"Q8WVJ9","geneName":"TWIST2","intActId":"EBI-1797313"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P15923-3","intActId":"EBI-12000326"},"interactantTwo":{"uniProtKBAccession":"P08670","geneName":"VIM","intActId":"EBI-353844"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31696227"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"E12"},"synonyms":[{"value":"PAN-2"}],"isoformIds":["P15923-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"E47"},"synonyms":[{"value":"PAN-1"}],"isoformIds":["P15923-2"],"sequenceIds":["VSP_002155"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["P15923-3"],"sequenceIds":["VSP_057277","VSP_057278"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17467953"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2493990"}],"value":"The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Phosphorylated following NGF stimulation"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21119685"}],"value":"Undergoes Notch-induced ubiquitination and subsequent proteasomal degradation which is mediated by ASB1 or ASB2, the substrate-recognition components of probable ECS E3 ubiquitin-protein ligase complexes"}],"commentType":"PTM"},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10086727"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1386162"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1671560"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1967983"}],"value":"Chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with PBX1. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family (PubMed:1671560, PubMed:1967983). Translocation t(17;19)(q22;p13.3) with HLF (PubMed:1386162). Inversion inv(19)(p13;q13) with TFPT (PubMed:10086727)"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Agammaglobulinemia 8A, autosomal dominant","diseaseAccession":"DI-04717","acronym":"AGM8A","description":"A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.","diseaseCrossReference":{"database":"MIM","id":"616941"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24216514"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Agammaglobulinemia 8B, autosomal recessive","diseaseAccession":"DI-06388","acronym":"AGM8B","description":"A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells.","diseaseCrossReference":{"database":"MIM","id":"619824"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28532655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30063982"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"The bHLH domain encompassing amino acids 546 to 599 is sufficient to mediate DNA-binding and homodimerization. Combined mutagenesis of Phe-566 and Leu-569 to Asp-566 and Glu-569, mutagenesis of Lys-585 to Ala-585 or combined mutagenesis of Ile-588 and Leu-589 to Asp-588 and Glu-589 prevents DNA-binding and homodimerization. Mutagenesis of Arg-548 to Lys-548, combined mutagenesis of Arg-547 and Arg-548 to Gly-547 and Gly-548, mutagenesis of Arg-556 to Lys-556, mutagenesis of Arg-558 to Lys-558, or combined mutagenesis of Arg-556 and Arg-558 to Gly-556 and Gly-558, alter DNA-binding but not dimerization"}],"commentType":"MISCELLANEOUS","molecule":"Isoform E47"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAA52331.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/50/E2A","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"Transcription factor E2-alpha","featureId":"PRO_0000127466"},{"type":"Domain","location":{"start":{"value":549,"modifier":"EXACT"},"end":{"value":602,"modifier":"EXACT"}},"description":"bHLH","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00981"}]},{"type":"Region","location":{"start":{"value":31,"modifier":"EXACT"},"end":{"value":103,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":135,"modifier":"EXACT"},"end":{"value":205,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":239,"modifier":"EXACT"},"end":{"value":268,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":292,"modifier":"EXACT"},"end":{"value":329,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":343,"modifier":"EXACT"},"end":{"value":385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":425,"modifier":"EXACT"}},"description":"Leucine-zipper"},{"type":"Region","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":633,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Motif","location":{"start":{"value":19,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"9aaTAD"},{"type":"Motif","location":{"start":{"value":170,"modifier":"EXACT"},"end":{"value":176,"modifier":"EXACT"}},"description":"Nuclear localization signal","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Compositional bias","location":{"start":{"value":55,"modifier":"EXACT"},"end":{"value":68,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":69,"modifier":"EXACT"},"end":{"value":79,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":84,"modifier":"EXACT"},"end":{"value":94,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":156,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":256,"modifier":"EXACT"},"end":{"value":268,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":343,"modifier":"EXACT"},"end":{"value":354,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":512,"modifier":"EXACT"},"end":{"value":523,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":542,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Site","location":{"start":{"value":483,"modifier":"EXACT"},"end":{"value":484,"modifier":"EXACT"}},"description":"Breakpoint for translocation to form TCF3-PBX1 oncogene"},{"type":"Modified residue","location":{"start":{"value":134,"modifier":"EXACT"},"end":{"value":134,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"}]},{"type":"Modified residue","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"}]},{"type":"Modified residue","location":{"start":{"value":355,"modifier":"EXACT"},"end":{"value":355,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15806"}]},{"type":"Modified residue","location":{"start":{"value":359,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"}]},{"type":"Modified residue","location":{"start":{"value":371,"modifier":"EXACT"},"end":{"value":371,"modifier":"EXACT"}},"description":"Omega-N-methylarginine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P15806"}]},{"type":"Modified residue","location":{"start":{"value":379,"modifier":"EXACT"},"end":{"value":379,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":529,"modifier":"EXACT"},"end":{"value":529,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Cross-link","location":{"start":{"value":498,"modifier":"EXACT"},"end":{"value":498,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25218447"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25755297"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Cross-link","location":{"start":{"value":625,"modifier":"EXACT"},"end":{"value":625,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Alternative sequence","location":{"start":{"value":49,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_057277","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":528,"modifier":"EXACT"},"end":{"value":528,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_057278","alternativeSequence":{"originalSequence":"T","alternativeSequences":["TRCQPTPRHSPPSPHQDAHVHRPHAHRTHTGRPSAGPTLFPQPHCLPLAPSRRPPH"]}},{"type":"Alternative sequence","location":{"start":{"value":530,"modifier":"EXACT"},"end":{"value":601,"modifier":"EXACT"}},"description":"in isoform E47","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"1818757"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"2308859"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"2493990"}],"featureId":"VSP_002155","alternativeSequence":{"originalSequence":"PDEDEDDLLPPEQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVILN","alternativeSequences":["STDEVLSLEEKDLRDRERRMANNARERVRVRDINEAFRELGRMCQMHLKSDKAQTKLLILQQAVQVILG"]}},{"type":"Natural variant","location":{"start":{"value":8,"modifier":"EXACT"},"end":{"value":8,"modifier":"EXACT"}},"description":"in a colorectal cancer sample; somatic mutation; dbSNP:rs376780559","featureCrossReferences":[{"database":"dbSNP","id":"rs376780559"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16959974"}],"featureId":"VAR_036396","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":120,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"in dbSNP:rs35354874","featureCrossReferences":[{"database":"dbSNP","id":"rs35354874"}],"featureId":"VAR_049552","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":198,"modifier":"EXACT"},"end":{"value":198,"modifier":"EXACT"}},"description":"in dbSNP:rs11879402","featureCrossReferences":[{"database":"dbSNP","id":"rs11879402"}],"featureId":"VAR_049553","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":270,"modifier":"EXACT"},"end":{"value":654,"modifier":"EXACT"}},"description":"in AGM8B; decreased protein abundance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28532655"}],"featureId":"VAR_087244","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":431,"modifier":"EXACT"},"end":{"value":431,"modifier":"EXACT"}},"description":"in dbSNP:rs1052692","featureCrossReferences":[{"database":"dbSNP","id":"rs1052692"}],"featureId":"VAR_049554","alternativeSequence":{"originalSequence":"G","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":69,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"in Ref. 6; CAA36297","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"FDPSRTFSEGTHFTESHSSLSSSTFLGPGLG","alternativeSequences":["GGGECLAWCGPSAVHRCADVGLGMVSARTAP"]}},{"type":"Sequence conflict","location":{"start":{"value":214,"modifier":"EXACT"},"end":{"value":216,"modifier":"EXACT"}},"description":"in Ref. 5; AAA56830","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"FYV","alternativeSequences":["EFR"]}},{"type":"Sequence conflict","location":{"start":{"value":302,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"in Ref. 1; AAA36764","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{}},{"type":"Sequence conflict","location":{"start":{"value":390,"modifier":"EXACT"},"end":{"value":390,"modifier":"EXACT"}},"description":"in Ref. 5; AAA56830","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{}},{"type":"Helix","location":{"start":{"value":12,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2MH0"}]},{"type":"Helix","location":{"start":{"value":563,"modifier":"EXACT"},"end":{"value":580,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3U5V"}]},{"type":"Helix","location":{"start":{"value":588,"modifier":"EXACT"},"end":{"value":608,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3U5V"}]},{"type":"Modified residue","location":{"start":{"value":531,"modifier":"EXACT"},"end":{"value":531,"modifier":"EXACT"},"sequence":"P15923-2"},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"}]},{"type":"Natural variant","location":{"start":{"value":555,"modifier":"EXACT"},"end":{"value":555,"modifier":"EXACT"},"sequence":"P15923-2"},"description":"in AGM8A; localizes normally to the nucleus; does not perform proper DNA binding; acts in a dominant-negative manner when coexpressed with wild-type; dbSNP:rs879255271","featureCrossReferences":[{"database":"dbSNP","id":"rs879255271"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24216514"}],"featureId":"VAR_082832","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0160","category":"Coding sequence diversity","name":"Chromosomal rearrangement"},{"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-0488","category":"PTM","name":"Methylation"},{"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"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-0656","category":"Disease","name":"Proto-oncogene"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"1967983","citationType":"journal article","authors":["Kamps M.P.","Murre C.","Sun X.-H.","Baltimore D."],"citationCrossReferences":[{"database":"PubMed","id":"1967983"},{"database":"DOI","id":"10.1016/0092-8674(90)90658-2"}],"title":"A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL.","publicationDate":"1990","journal":"Cell","firstPage":"547","lastPage":"555","volume":"60"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM E12)","CHROMOSOMAL TRANSLOCATION WITH PBX1"]},{"referenceNumber":2,"citation":{"id":"1967982","citationType":"journal article","authors":["Nourse J.","Mellentin J.D.","Galili N.","Wilkinson J.","Stanbridge E.","Smith S.D.","Cleary M.L."],"citationCrossReferences":[{"database":"PubMed","id":"1967982"},{"database":"DOI","id":"10.1016/0092-8674(90)90657-z"}],"title":"Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor.","publicationDate":"1990","journal":"Cell","firstPage":"535","lastPage":"545","volume":"60"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM E12)"]},{"referenceNumber":3,"citation":{"id":"15057824","citationType":"journal article","authors":["Grimwood J.","Gordon L.A.","Olsen A.S.","Terry A.","Schmutz J.","Lamerdin J.E.","Hellsten U.","Goodstein D.","Couronne O.","Tran-Gyamfi M.","Aerts A.","Altherr M.","Ashworth L.","Bajorek E.","Black S.","Branscomb E.","Caenepeel S.","Carrano A.V.","Caoile C.","Chan Y.M.","Christensen M.","Cleland C.A.","Copeland A.","Dalin E.","Dehal P.","Denys M.","Detter J.C.","Escobar J.","Flowers D.","Fotopulos D.","Garcia C.","Georgescu A.M.","Glavina T.","Gomez M.","Gonzales E.","Groza M.","Hammon N.","Hawkins T.","Haydu L.","Ho I.","Huang W.","Israni S.","Jett J.","Kadner K.","Kimball H.","Kobayashi A.","Larionov V.","Leem S.-H.","Lopez F.","Lou Y.","Lowry S.","Malfatti S.","Martinez D.","McCready P.M.","Medina C.","Morgan J.","Nelson K.","Nolan M.","Ovcharenko I.","Pitluck S.","Pollard M.","Popkie A.P.","Predki P.","Quan G.","Ramirez L.","Rash S.","Retterer J.","Rodriguez A.","Rogers S.","Salamov A.","Salazar A.","She X.","Smith D.","Slezak T.","Solovyev V.","Thayer N.","Tice H.","Tsai M.","Ustaszewska A.","Vo N.","Wagner M.","Wheeler J.","Wu K.","Xie G.","Yang J.","Dubchak I.","Furey T.S.","DeJong P.","Dickson M.","Gordon D.","Eichler E.E.","Pennacchio L.A.","Richardson P.","Stubbs L.","Rokhsar D.S.","Myers R.M.","Rubin E.M.","Lucas S.M."],"citationCrossReferences":[{"database":"PubMed","id":"15057824"},{"database":"DOI","id":"10.1038/nature02399"}],"title":"The DNA sequence and biology of human chromosome 19.","publicationDate":"2004","journal":"Nature","firstPage":"529","lastPage":"535","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"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 E47 AND 3)"]},{"referenceNumber":5,"citation":{"id":"2493990","citationType":"journal article","authors":["Murre C.","McCaw P.S.","Baltimore D."],"citationCrossReferences":[{"database":"PubMed","id":"2493990"},{"database":"DOI","id":"10.1016/0092-8674(89)90682-x"}],"title":"A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins.","publicationDate":"1989","journal":"Cell","firstPage":"777","lastPage":"783","volume":"56"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 214-654 (ISOFORMS E12 AND E47)","FUNCTION","DOMAIN BHLH"],"referenceComments":[{"value":"Lymphoma","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"2308859","citationType":"journal article","authors":["Henthorn P.","McCarrick-Walmsley R.","Kadesch T."],"citationCrossReferences":[{"database":"PubMed","id":"2308859"},{"database":"DOI","id":"10.1093/nar/18.3.677"}],"title":"Sequence of the cDNA encoding ITF-1, a positive-acting transcription factor.","publicationDate":"1990","journal":"Nucleic Acids Res.","firstPage":"677","lastPage":"677","volume":"18"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 69-654 (ISOFORM E47)"]},{"referenceNumber":7,"citation":{"id":"1818757","citationType":"journal article","authors":["Zhang Y.","Bina M."],"citationCrossReferences":[{"database":"PubMed","id":"1818757"},{"database":"DOI","id":"10.3109/10425179109039690"}],"title":"Sequence of a HeLa cDNA provides the DNA binding domain and carboxy terminus of HE47: a human helix-loop-helix protein related to the enhancer binding factor E47.","publicationDate":"1991","journal":"DNA Seq.","firstPage":"197","lastPage":"202","volume":"2"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 511-654 (ISOFORM E47)"]},{"referenceNumber":8,"citation":{"id":"2105528","citationType":"journal article","authors":["Henthorn P.","Kiledjian M.","Kadesch T."],"citationCrossReferences":[{"database":"PubMed","id":"2105528"},{"database":"DOI","id":"10.1126/science.2105528"}],"title":"Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif.","publicationDate":"1990","journal":"Science","firstPage":"467","lastPage":"470","volume":"247"},"referencePositions":["DISCUSSION OF SEQUENCE"]},{"referenceNumber":9,"citation":{"id":"2112746","citationType":"journal article","authors":["Voronova A.","Baltimore D."],"citationCrossReferences":[{"database":"PubMed","id":"2112746"},{"database":"DOI","id":"10.1073/pnas.87.12.4722"}],"title":"Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains.","publicationDate":"1990","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"4722","lastPage":"4726","volume":"87"},"referencePositions":["MUTAGENESIS","DNA-BINDING","HOMODIMERIZATION"]},{"referenceNumber":10,"citation":{"id":"1671560","citationType":"journal article","authors":["Hunger S.P.","Galili N.","Carroll A.J.","Crist W.M.","Link M.P.","Cleary M.L."],"citationCrossReferences":[{"database":"PubMed","id":"1671560"},{"database":"DOI","id":"10.1182/blood.v77.4.687.687"}],"title":"The t(1;19)(q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias.","publicationDate":"1991","journal":"Blood","firstPage":"687","lastPage":"693","volume":"77"},"referencePositions":["CHROMOSOMAL TRANSLOCATION WITH PBX1"]},{"referenceNumber":11,"citation":{"id":"1386162","citationType":"journal article","authors":["Inaba T.","Roberts W.M.","Shapiro L.H.","Jolly K.W.","Raimondi S.C.","Smith S.D.","Look A.T."],"citationCrossReferences":[{"database":"PubMed","id":"1386162"},{"database":"DOI","id":"10.1126/science.1386162"}],"title":"Fusion of the leucine zipper gene HLF to the E2A gene in human acute B-lineage leukemia.","publicationDate":"1992","journal":"Science","firstPage":"531","lastPage":"534","volume":"257"},"referencePositions":["CHROMOSOMAL TRANSLOCATION WITH HLF"]},{"referenceNumber":12,"citation":{"id":"9409784","citationType":"journal article","authors":["Loveys D.A.","Streiff M.B.","Schaefer T.S.","Kato G.J."],"citationCrossReferences":[{"database":"PubMed","id":"9409784"},{"database":"DOI","id":"10.1016/s0378-1119(97)00444-7"}],"title":"The mUBC9 murine ubiquitin conjugating enzyme interacts with the E2A transcription factors.","publicationDate":"1997","journal":"Gene","firstPage":"169","lastPage":"177","volume":"201"},"referencePositions":["INTERACTION WITH UBE2I"]},{"referenceNumber":13,"citation":{"id":"10086727","citationType":"journal article","authors":["Brambillasca F.","Mosna G.","Colombo M.","Rivolta A.","Caslini C.","Minuzzo M.","Giudici G.","Mizzi L.","Biondi A.","Privitera E."],"citationCrossReferences":[{"database":"PubMed","id":"10086727"},{"database":"DOI","id":"10.1038/sj.leu.2401338"}],"title":"Identification of a novel molecular partner of the E2A gene in childhood leukemia.","publicationDate":"1999","journal":"Leukemia","firstPage":"369","lastPage":"375","volume":"13"},"referencePositions":["CHROMOSOMAL TRANSLOCATION WITH TFPT"]},{"referenceNumber":14,"citation":{"id":"14752053","citationType":"journal article","authors":["Kim J.Y.","Chu K.","Kim H.J.","Seong H.A.","Park K.C.","Sanyal S.","Takeda J.","Ha H.","Shong M.","Tsai M.J.","Choi H.S."],"citationCrossReferences":[{"database":"PubMed","id":"14752053"},{"database":"DOI","id":"10.1210/me.2003-0311"}],"title":"Orphan nuclear receptor small heterodimer partner, a novel corepressor for a basic helix-loop-helix transcription factor BETA2/neuroD.","publicationDate":"2004","journal":"Mol. Endocrinol.","firstPage":"776","lastPage":"790","volume":"18"},"referencePositions":["INTERACTION WITH NEUROD1 AND EP300","HOMODIMERIZATION","HETERODIMERIZATION"]},{"referenceNumber":15,"citation":{"id":"15044608","citationType":"journal article","authors":["Bayne R.A.L.","Martins da Silva S.J.","Anderson R.A."],"citationCrossReferences":[{"database":"PubMed","id":"15044608"},{"database":"DOI","id":"10.1093/molehr/gah056"}],"title":"Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary.","publicationDate":"2004","journal":"Mol. Hum. Reprod.","firstPage":"373","lastPage":"381","volume":"10"},"referencePositions":["INTERACTION WITH FIGLA"]},{"referenceNumber":16,"citation":{"id":"16964243","citationType":"journal article","authors":["Beausoleil S.A.","Villen J.","Gerber S.A.","Rush J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"16964243"},{"database":"DOI","id":"10.1038/nbt1240"}],"title":"A probability-based approach for high-throughput protein phosphorylation analysis and site localization.","publicationDate":"2006","journal":"Nat. Biotechnol.","firstPage":"1285","lastPage":"1292","volume":"24"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":17,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-531 (ISOFORM E47)","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":18,"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-139 AND SER-359","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":19,"citation":{"id":"20068231","citationType":"journal article","authors":["Olsen J.V.","Vermeulen M.","Santamaria A.","Kumar C.","Miller M.L.","Jensen L.J.","Gnad F.","Cox J.","Jensen T.S.","Nigg E.A.","Brunak S.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"20068231"},{"database":"DOI","id":"10.1126/scisignal.2000475"}],"title":"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.","publicationDate":"2010","journal":"Sci. Signal.","firstPage":"RA3","lastPage":"RA3","volume":"3"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-134","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":20,"citation":{"id":"21119685","citationType":"journal article","authors":["Nie L.","Zhao Y.","Wu W.","Yang Y.Z.","Wang H.C.","Sun X.H."],"citationCrossReferences":[{"database":"PubMed","id":"21119685"},{"database":"DOI","id":"10.1038/cr.2010.165"}],"title":"Notch-induced Asb2 expression promotes protein ubiquitination by forming non-canonical E3 ligase complexes.","publicationDate":"2011","journal":"Cell Res.","firstPage":"754","lastPage":"769","volume":"21"},"referencePositions":["INTERACTION WITH ASB2","PROTEASOMAL DEGRADATION"]},{"referenceNumber":21,"citation":{"id":"21406692","citationType":"journal article","authors":["Rigbolt K.T.","Prokhorova T.A.","Akimov V.","Henningsen J.","Johansen P.T.","Kratchmarova I.","Kassem M.","Mann M.","Olsen J.V.","Blagoev B."],"citationCrossReferences":[{"database":"PubMed","id":"21406692"},{"database":"DOI","id":"10.1126/scisignal.2001570"}],"title":"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.","publicationDate":"2011","journal":"Sci. Signal.","firstPage":"RS3","lastPage":"RS3","volume":"4"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":22,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-379 AND SER-529","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":23,"citation":{"id":"25466284","citationType":"journal article","authors":["Malik S.","Percin F.E.","Bornholdt D.","Albrecht B.","Percesepe A.","Koch M.C.","Landi A.","Fritz B.","Khan R.","Mumtaz S.","Akarsu N.A.","Grzeschik K.H."],"citationCrossReferences":[{"database":"PubMed","id":"25466284"},{"database":"DOI","id":"10.1016/j.ajhg.2014.10.012"}],"title":"Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.","publicationDate":"2014","journal":"Am. J. Hum. Genet.","firstPage":"649","lastPage":"659","volume":"95"},"referencePositions":["INTERACTION WITH BHLHA9"]},{"referenceNumber":24,"citation":{"id":"25218447","citationType":"journal article","authors":["Hendriks I.A.","D'Souza R.C.","Yang B.","Verlaan-de Vries M.","Mann M.","Vertegaal A.C."],"citationCrossReferences":[{"database":"PubMed","id":"25218447"},{"database":"DOI","id":"10.1038/nsmb.2890"}],"title":"Uncovering global SUMOylation signaling networks in a site-specific manner.","publicationDate":"2014","journal":"Nat. Struct. Mol. Biol.","firstPage":"927","lastPage":"936","volume":"21"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-498","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":25,"citation":{"id":"25755297","citationType":"journal article","authors":["Xiao Z.","Chang J.G.","Hendriks I.A.","Sigurdsson J.O.","Olsen J.V.","Vertegaal A.C."],"citationCrossReferences":[{"database":"PubMed","id":"25755297"},{"database":"DOI","id":"10.1074/mcp.o114.044792"}],"title":"System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.","publicationDate":"2015","journal":"Mol. Cell. Proteomics","firstPage":"1419","lastPage":"1434","volume":"14"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-498","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":26,"citation":{"id":"28112733","citationType":"journal article","authors":["Hendriks I.A.","Lyon D.","Young C.","Jensen L.J.","Vertegaal A.C.","Nielsen M.L."],"citationCrossReferences":[{"database":"PubMed","id":"28112733"},{"database":"DOI","id":"10.1038/nsmb.3366"}],"title":"Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.","publicationDate":"2017","journal":"Nat. Struct. Mol. Biol.","firstPage":"325","lastPage":"336","volume":"24"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-498 AND LYS-625","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":27,"citation":{"id":"31696227","citationType":"journal article","authors":["Atac D.","Koller S.","Hanson J.V.M.","Feil S.","Tiwari A.","Bahr A.","Baehr L.","Magyar I.","Kottke R.","Gerth-Kahlert C.","Berger W."],"citationCrossReferences":[{"database":"PubMed","id":"31696227"},{"database":"DOI","id":"10.1093/hmg/ddz268"}],"title":"Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.","publicationDate":"2020","journal":"Hum. Mol. Genet.","firstPage":"132","lastPage":"148","volume":"29"},"referencePositions":["FUNCTION","INTERACTION WITH ATOH7","SUBCELLULAR LOCATION"]},{"referenceNumber":28,"citation":{"id":"8433970","citationType":"journal article","authors":["Gibson T.J.","Thompson J.D.","Abagyan R.A."],"citationCrossReferences":[{"database":"PubMed","id":"8433970"},{"database":"DOI","id":"10.1093/protein/6.1.41"}],"title":"Proposed structure for the DNA-binding domain of the helix-loop-helix family of eukaryotic gene regulatory proteins.","publicationDate":"1993","journal":"Protein Eng.","firstPage":"41","lastPage":"50","volume":"6"},"referencePositions":["3D-STRUCTURE MODELING OF 549-610"]},{"referenceNumber":29,"citation":{"id":"16959974","citationType":"journal article","authors":["Sjoeblom T.","Jones S.","Wood L.D.","Parsons D.W.","Lin J.","Barber T.D.","Mandelker D.","Leary R.J.","Ptak J.","Silliman N.","Szabo S.","Buckhaults P.","Farrell C.","Meeh P.","Markowitz S.D.","Willis J.","Dawson D.","Willson J.K.V.","Gazdar A.F.","Hartigan J.","Wu L.","Liu C.","Parmigiani G.","Park B.H.","Bachman K.E.","Papadopoulos N.","Vogelstein B.","Kinzler K.W.","Velculescu V.E."],"citationCrossReferences":[{"database":"PubMed","id":"16959974"},{"database":"DOI","id":"10.1126/science.1133427"}],"title":"The consensus coding sequences of human breast and colorectal cancers.","publicationDate":"2006","journal":"Science","firstPage":"268","lastPage":"274","volume":"314"},"referencePositions":["VARIANT [LARGE SCALE ANALYSIS] VAL-8"]},{"referenceNumber":30,"citation":{"id":"17467953","citationType":"journal article","authors":["Piskacek S.","Gregor M.","Nemethova M.","Grabner M.","Kovarik P.","Piskacek M."],"citationCrossReferences":[{"database":"PubMed","id":"17467953"},{"database":"DOI","id":"10.1016/j.ygeno.2007.02.003"}],"title":"Nine-amino-acid transactivation domain: establishment and prediction utilities.","publicationDate":"2007","journal":"Genomics","firstPage":"756","lastPage":"768","volume":"89"},"referencePositions":["DOMAIN"]},{"referenceNumber":31,"citation":{"id":"24216514","citationType":"journal article","authors":["Boisson B.","Wang Y.D.","Bosompem A.","Ma C.S.","Lim A.","Kochetkov T.","Tangye S.G.","Casanova J.L.","Conley M.E."],"citationCrossReferences":[{"database":"PubMed","id":"24216514"},{"database":"DOI","id":"10.1172/jci71927"}],"title":"A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.","publicationDate":"2013","journal":"J. Clin. Invest.","firstPage":"4781","lastPage":"4786","volume":"123"},"referencePositions":["INVOLVEMENT IN AGM8A","VARIANT AGM8A LYS-555 (ISOFORM E47)","CHARACTERIZATION OF VARIANT AGM8A (ISOFORM E47) LYS-555"]},{"referenceNumber":32,"citation":{"id":"28532655","citationType":"journal article","authors":["Ben-Ali M.","Yang J.","Chan K.W.","Ben-Mustapha I.","Mekki N.","Benabdesselem C.","Mellouli F.","Bejaoui M.","Yang W.","Aissaoui L.","Lau Y.L.","Barbouche M.R."],"citationCrossReferences":[{"database":"PubMed","id":"28532655"},{"database":"DOI","id":"10.1016/j.jaci.2017.04.037"}],"title":"Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia.","publicationDate":"2017","journal":"J. Allergy Clin. Immunol.","firstPage":"1191.e4","lastPage":"1194.e4","volume":"140"},"referencePositions":["INVOLVEMENT IN AGM8B","VARIANT AGM8B 270-GLN--MET-654 DEL","CHARACTERIZATION OF VARIANT AGM8B 270-GLN--MET-654 DEL"]},{"referenceNumber":33,"citation":{"id":"30063982","citationType":"journal article","authors":["Qureshi S.","Sheikh M.D.A.","Qamar F.N."],"citationCrossReferences":[{"database":"PubMed","id":"30063982"},{"database":"DOI","id":"10.1016/j.clim.2018.07.016"}],"title":"Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan.","publicationDate":"2019","journal":"Clin. Immunol.","firstPage":"100","lastPage":"101","volume":"198"},"referencePositions":["INVOLVEMENT IN AGM8B"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"M31523","properties":[{"key":"ProteinId","value":"AAA61146.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M31522","properties":[{"key":"ProteinId","value":"AAA36764.1"},{"key":"Status","value":"ALT_TERM"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M31222","properties":[{"key":"ProteinId","value":"AAA52331.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC006274","properties":[{"key":"ProteinId","value":"AAC99797.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC005321","properties":[{"key":"ProteinId","value":"AAC27373.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"KC877695","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC110579","properties":[{"key":"ProteinId","value":"AAI10580.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC110580","properties":[{"key":"ProteinId","value":"AAI10581.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M24404","properties":[{"key":"ProteinId","value":"AAA56829.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M24405","properties":[{"key":"ProteinId","value":"AAA56830.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"X52078","properties":[{"key":"ProteinId","value":"CAA36297.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M65214","properties":[{"key":"ProteinId","value":"AAC41693.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS12074.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P15923-1"},{"database":"CCDS","id":"CCDS45899.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P15923-2"},{"database":"PIR","id":"A34734","properties":[{"key":"EntryName","value":"A34734"}]},{"database":"PIR","id":"S10099","properties":[{"key":"EntryName","value":"S10099"}]},{"database":"RefSeq","id":"NP_001129611.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001136139.4"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"NP_001338708.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001351779.2"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"NP_003191.1","properties":[{"key":"NucleotideSequenceId","value":"NM_003200.5"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_016882670.1","properties":[{"key":"NucleotideSequenceId","value":"XM_017027181.2"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295219.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439263.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295220.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439264.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295221.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439265.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295224.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439268.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_047295225.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439269.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_047295232.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439276.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295233.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439277.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295234.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439278.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_047295237.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439281.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_047295238.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439282.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_047295239.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439283.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_047295240.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047439284.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177837.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321862.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177838.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321863.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177839.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321864.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177840.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321865.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177841.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321866.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177842.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321867.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177843.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321868.1"}],"isoformId":"P15923-1"},{"database":"RefSeq","id":"XP_054177847.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321872.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177848.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321873.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177849.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321874.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177850.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321875.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177851.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321876.1"}],"isoformId":"P15923-2"},{"database":"RefSeq","id":"XP_054177852.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054321877.1"}],"isoformId":"P15923-2"},{"database":"PDB","id":"2MH0","properties":[{"key":"Method","value":"NMR"},{"key":"Resolution","value":"-"},{"key":"Chains","value":"A=1-37"}]},{"database":"PDB","id":"2YPA","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.80 A"},{"key":"Chains","value":"B=538-616"}]},{"database":"PDB","id":"2YPB","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.87 A"},{"key":"Chains","value":"B=538-616"}]},{"database":"PDB","id":"3U5V","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.70 A"},{"key":"Chains","value":"A=563-613"}]},{"database":"PDB","id":"6MGN","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.90 A"},{"key":"Chains","value":"A=561-612"}]},{"database":"PDBsum","id":"2MH0","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2YPA","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2YPB","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"3U5V","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6MGN","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-42092","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-42093","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"112791","properties":[{"key":"Interactions","value":"230"}]},{"database":"CORUM","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"DIP","id":"DIP-74N","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"P15923","properties":[{"key":"Number of interactors","value":"3247"}]},{"database":"IntAct","id":"P15923","properties":[{"key":"Interactions","value":"68"}]},{"database":"MINT","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-TCF3","properties":[{"key":"Evidences","value":"9 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000262965","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"P15923","properties":[{"key":"glycosylation","value":"6 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (5 sites)"}]},{"database":"iPTMnet","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"TCF3","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"135655","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000262965","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"53242","properties":[{"key":"Description","value":"-"}],"isoformId":"P15923-1"},{"database":"ProteomicsDB","id":"53243","properties":[{"key":"Description","value":"-"}],"isoformId":"P15923-2"},{"database":"ProteomicsDB","id":"61481","properties":[{"key":"Description","value":"-"}]},{"database":"Pumba","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"4332","properties":[{"key":"antibodies","value":"593 antibodies from 48 providers"}]},{"database":"DNASU","id":"6929","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000262965.12","properties":[{"key":"ProteinId","value":"ENSP00000262965.5"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-1"},{"database":"Ensembl","id":"ENST00000395423.7","properties":[{"key":"ProteinId","value":"ENSP00000378813.3"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-3"},{"database":"Ensembl","id":"ENST00000588136.7","properties":[{"key":"ProteinId","value":"ENSP00000468487.1"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-2"},{"database":"Ensembl","id":"ENST00000863491.1","properties":[{"key":"ProteinId","value":"ENSP00000533550.1"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-1"},{"database":"Ensembl","id":"ENST00000931966.1","properties":[{"key":"ProteinId","value":"ENSP00000602025.1"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-1"},{"database":"Ensembl","id":"ENST00000931973.1","properties":[{"key":"ProteinId","value":"ENSP00000602032.1"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-1"},{"database":"Ensembl","id":"ENST00000931974.1","properties":[{"key":"ProteinId","value":"ENSP00000602033.1"},{"key":"GeneId","value":"ENSG00000071564.20"}],"isoformId":"P15923-1"},{"database":"GeneID","id":"6929","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:6929","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000262965.12","properties":[{"key":"ProteinId","value":"ENSP00000262965.5"},{"key":"RefSeqNucleotideId","value":"NM_003200.5"},{"key":"RefSeqProteinId","value":"NP_003191.1"}]},{"database":"UCSC","id":"uc002ltr.3","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"P15923-1"},{"database":"AGR","id":"HGNC:11633","properties":[{"key":"Description","value":"-"}]},{"database":"CIViC","id":"6929","properties":[{"key":"Number of evidences","value":"1 evidence item across 1 molecular profile"}]},{"database":"ClinPGx","id":"PA164742580","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"6929","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"6929","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"TCF3","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:11633","properties":[{"key":"GeneName","value":"TCF3"}]},{"database":"HPA","id":"ENSG00000071564","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"TCF3","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"147141","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"616941","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"619824","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000071564","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"33110","properties":[{"key":"Disease","value":"Autosomal non-syndromic agammaglobulinemia"}]},{"database":"Orphanet","id":"641375","properties":[{"key":"Disease","value":"B-lymphoblastic leukemia/lymphoma with t(17;19)"}]},{"database":"Orphanet","id":"585956","properties":[{"key":"Disease","value":"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000071564","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3910","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000157036","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_021099_2_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"FPQPHCL","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"10034090at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P15923","properties":[{"key":"Number of GO annotations","value":"6 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-525793","properties":[{"key":"PathwayName","value":"Myogenesis"}]},{"database":"Reactome","id":"R-HSA-8939236","properties":[{"key":"PathwayName","value":"RUNX1 regulates transcription of genes involved in differentiation of HSCs"}]},{"database":"Reactome","id":"R-HSA-9764725","properties":[{"key":"PathwayName","value":"Negative Regulation of CDH1 Gene Transcription"}]},{"database":"Reactome","id":"R-HSA-9839394","properties":[{"key":"PathwayName","value":"TGFBR3 expression"}]},{"database":"Reactome","id":"R-HSA-9943411","properties":[{"key":"PathwayName","value":"CHD1 and CHD2 subfamily"}]},{"database":"SignaLink","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000071564","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"6929","properties":[{"key":"hits","value":"54 hits in 1182 CRISPR screens"}]},{"database":"ChiTaRS","id":"TCF3","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"P15923","properties":[{"key":"Description","value":"-"}]},{"database":"GeneWiki","id":"TCF3","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"6929","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P15923","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:P15923","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 19"}]},{"database":"RNAct","id":"P15923","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000071564","properties":[{"key":"ExpressionPatterns","value":"Expressed in ganglionic eminence and 207 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P15923","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0000785","properties":[{"key":"GoTerm","value":"C:chromatin"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21828274"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21828274"}]},{"database":"GO","id":"GO:0000791","properties":[{"key":"GoTerm","value":"C:euchromatin"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10652346"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10775504"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"12493738"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"31696227"}]},{"database":"GO","id":"GO:0032991","properties":[{"key":"GoTerm","value":"C:protein-containing complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}]},{"database":"GO","id":"GO:0090575","properties":[{"key":"GoTerm","value":"C:RNA polymerase II transcription regulator complex"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10545951"}]},{"database":"GO","id":"GO:0005667","properties":[{"key":"GoTerm","value":"C:transcription regulator complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10775504"}]},{"database":"GO","id":"GO:0043425","properties":[{"key":"GoTerm","value":"F:bHLH transcription factor binding"},{"key":"GoEvidenceType","value":"IPI:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"10775504"}]},{"database":"GO","id":"GO:0000987","properties":[{"key":"GoTerm","value":"F:cis-regulatory region sequence-specific DNA binding"},{"key":"GoEvidenceType","value":"IC:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"21828274"}]},{"database":"GO","id":"GO:0003677","properties":[{"key":"GoTerm","value":"F:DNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10958665"}]},{"database":"GO","id":"GO:0001228","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription activator activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10652346"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10775504"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14752053"}]},{"database":"GO","id":"GO:0003700","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription factor activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"2105528"}]},{"database":"GO","id":"GO:0000981","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription factor activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"ISA:NTNU_SB"}]},{"database":"GO","id":"GO:0140297","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription factor binding"},{"key":"GoEvidenceType","value":"IPI:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"12493738"}]},{"database":"GO","id":"GO:0001227","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription repressor activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"IDA:NTNU_SB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14576336"}]},{"database":"GO","id":"GO:0070888","properties":[{"key":"GoTerm","value":"F:E-box binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"7933101"}]},{"database":"GO","id":"GO:0031435","properties":[{"key":"GoTerm","value":"F:mitogen-activated protein kinase kinase kinase binding"},{"key":"GoEvidenceType","value":"IPI:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"19801649"}]},{"database":"GO","id":"GO:0046982","properties":[{"key":"GoTerm","value":"F:protein heterodimerization activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14752053"}]},{"database":"GO","id":"GO:0042803","properties":[{"key":"GoTerm","value":"F:protein homodimerization activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10958665"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14752053"}]},{"database":"GO","id":"GO:0000978","properties":[{"key":"GoTerm","value":"F:RNA polymerase II cis-regulatory region sequence-specific DNA binding"},{"key":"GoEvidenceType","value":"IDA:NTNU_SB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14576336"}]},{"database":"GO","id":"GO:0061629","properties":[{"key":"GoTerm","value":"F:RNA polymerase II-specific DNA-binding transcription factor binding"},{"key":"GoEvidenceType","value":"IPI:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"10652346"}]},{"database":"GO","id":"GO:0070644","properties":[{"key":"GoTerm","value":"F:vitamin D response element binding"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17426122"}]},{"database":"GO","id":"GO:0030183","properties":[{"key":"GoTerm","value":"P:B cell differentiation"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12435739"}]},{"database":"GO","id":"GO:0002326","properties":[{"key":"GoTerm","value":"P:B cell lineage commitment"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12435739"}]},{"database":"GO","id":"GO:0033152","properties":[{"key":"GoTerm","value":"P:immunoglobulin V(D)J recombination"},{"key":"GoEvidenceType","value":"IDA:MGI"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"16428437"}]},{"database":"GO","id":"GO:0000122","properties":[{"key":"GoTerm","value":"P:negative regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IDA:NTNU_SB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"14576336"}]},{"database":"GO","id":"GO:0030890","properties":[{"key":"GoTerm","value":"P:positive regulation of B cell proliferation"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}]},{"database":"GO","id":"GO:0045787","properties":[{"key":"GoTerm","value":"P:positive regulation of cell cycle"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}]},{"database":"GO","id":"GO:0045893","properties":[{"key":"GoTerm","value":"P:positive regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"2105528"}]},{"database":"GO","id":"GO:0045666","properties":[{"key":"GoTerm","value":"P:positive regulation of neuron differentiation"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IDA:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"19362560"}]},{"database":"GO","id":"GO:0006355","properties":[{"key":"GoTerm","value":"P:regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"2493990"}]},{"database":"GO","id":"GO:2000045","properties":[{"key":"GoTerm","value":"P:regulation of G1/S transition of mitotic cell cycle"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}]},{"database":"GO","id":"GO:0006357","properties":[{"key":"GoTerm","value":"P:regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"CDD","id":"cd18945","properties":[{"key":"EntryName","value":"bHLH_E-protein_TCF4_E2-2"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"4.10.280.10:FF:000001","properties":[{"key":"EntryName","value":"Putative transcription factor 12"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"4.10.280.10","properties":[{"key":"EntryName","value":"Helix-loop-helix DNA-binding domain"},{"key":"MatchStatus","value":"1"}]},{"database":"IDEAL","id":"IID00541","properties":[{"key":"Description","value":"-"}]},{"database":"InterPro","id":"IPR011598","properties":[{"key":"EntryName","value":"bHLH_dom"}]},{"database":"InterPro","id":"IPR036638","properties":[{"key":"EntryName","value":"HLH_DNA-bd_sf"}]},{"database":"InterPro","id":"IPR051098","properties":[{"key":"EntryName","value":"NeuroDiff_E-box_TFs"}]},{"database":"PANTHER","id":"PTHR11793","properties":[{"key":"EntryName","value":"BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11793:SF7","properties":[{"key":"EntryName","value":"TRANSCRIPTION FACTOR E2-ALPHA"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00010","properties":[{"key":"EntryName","value":"HLH"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00353","properties":[{"key":"EntryName","value":"HLH"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF47459","properties":[{"key":"EntryName","value":"HLH, helix-loop-helix DNA-binding domain"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50888","properties":[{"key":"EntryName","value":"BHLH"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MNQPQRMAPVGTDKELSDLLDFSMMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSSFDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSRRRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLPLPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALASIYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASGFTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEKKELKAPRARTSPDEDEDDLLPPEQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVILNLEQQVRERNLNPKAACLKRREEEKVSGVVGDPQMVLSAPHPGLSEAHNPAGHM","length":654,"molWeight":67600,"crc64":"52F5E3DE1890AE13","md5":"D48F1CFE0933F8DBCC56E74FB20887D2"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"SUBUNIT":3,"INTERACTION":22,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"DOMAIN":1,"PTM":2,"DISEASE":3,"MISCELLANEOUS":1,"SEQUENCE CAUTION":1,"WEB RESOURCE":1},"countByFeatureType":{"Chain":1,"Domain":1,"Region":8,"Motif":2,"Compositional bias":8,"Site":1,"Modified residue":8,"Cross-link":2,"Alternative sequence":3,"Natural variant":6,"Sequence conflict":4,"Helix":3},"uniParcId":"UPI0000136C80"}}