TCF12 gene

transcription factor 12

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Craniosynostosis 3

From UniProt:

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. [MIM:615314]

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3

Molecular Location: base pairs 56,918,090 to 57,291,261 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3
  • bHLHb20
  • CRS3
  • HEB
  • HsT17266
  • HTF4
  • TCF-12