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MGP003088

UniProt Annotations

Entry Information
Gene Nametranscription factor 12
Protein EntryHTF4_HUMAN
UniProt IDQ99081
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=a; IsoId=Q99081-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q99081-2; Sequence=VSP_039109, VSP_039110; Name=3; Synonyms=c; IsoId=Q99081-3; Sequence=VSP_040024; Name=4; IsoId=Q99081-4; Sequence=VSP_057419, VSP_057420; Note=No experimental confirmation available.;
DiseaseCraniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:23354436, ECO:0000269|PubMed:25271085}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domainthe 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. {ECO:0000269|PubMed:17467953}.
FunctionTranscriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').
InteractionO75593:FOXH1; NbExp=2; IntAct=EBI-722877, EBI-1759806;
SimilarityContains 1 bHLH (basic helix-loop-helix) domain. {ECO:0000255|PROSITE-ProRule:PRU00981}.
Subcellular LocationNucleus.
SubunitEfficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin, E12 and ITF2 proteins. Interacts with PTF1A. Interacts with NEUROD2 (By similarity). Interacts with RUNX1T1. {ECO:0000250, ECO:0000269|PubMed:16616331, ECO:0000269|PubMed:19204326}.
Tissue SpecificityExpressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TCF12ID406.html";
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