TCF12
Description
The TCF12 (transcription factor 12) is a protein-coding gene located on chromosome 15.
TCF12 is a protein encoded by the TCF12 gene in humans. It belongs to the basic helix-loop-helix (bHLH) E-protein family and recognizes the E-box DNA sequence (CANNTG). TCF12 is expressed in various tissues, including skeletal muscle, thymus, B- and T-cells, and may regulate lineage-specific gene expression by forming heterodimers with other bHLH E-proteins. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some is unknown. TCF12 has been linked to human male sexuality in a GWAS study, and mutations have been associated with coronal craniosynostosis. TCF12 primarily heterodimerizes with TCF21, a tumor suppressor gene and a target of SRY/SOX9 activity.
TCF12 is a transcriptional regulator that plays a role in neuronal differentiation. It activates transcription by binding to the E box DNA sequence (5'-CANNTG-3'). TCF12 may also be involved in regulating the development of the GnRH axis.
TCF12 is also known as CRS3, HEB, HH26, HTF4, HsT17266, TCF-12, bHLHb20, p64.
Associated Diseases
- Non-syndromic bicoronal craniosynostosis
- Hypogonadotropic hypogonadism 26 with or without anosmia
- Craniosynostosis 3
