TCF12

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

TCF12 Gene(Protein Coding) Transcription Factor 12

Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').

Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process immune responseTAS:ProtInc1 Publication
Biological Process muscle organ developmentTAS:ProtInc1 Publication
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process positive regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of neuron differentiationIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIIDA:NTNU_SB1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication

Nucleus

Craniosynostosis 3 (CRS3):
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.