TCF12

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Transcription factor 12
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TCF12 ; CRS3; HEB; HTF4; HsT17266; bHLHb20
External IDs OMIM600480 MGI101877 HomoloGene40774 GeneCards: TCF12 Gene
RNA expression pattern
PBB GE TCF12 208986 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6938 21406
Ensembl ENSG00000140262 ENSMUSG00000032228
UniProt Q99081 Q61286
RefSeq (mRNA) NM_003205 NM_001253862
RefSeq (protein) NP_003196 NP_001240791
Location (UCSC) Chr 15:
57.21 – 57.59 Mb
Chr 9:
71.84 – 72.11 Mb
PubMed search [1] [2]

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[1][2]

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.[2]

Mutations in this gene have been associated to cases of coronal craniosynostosis (doi: 10.1038/ng.2531)

References[edit]

  1. ^ Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M (Oct 1991). "HTF4: a new human helix-loop-helix protein". Nucleic Acids Res 19 (16): 4555. doi:10.1093/nar/19.16.4555. PMC 328652. PMID 1886779. 
  2. ^ a b "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)". 

Further reading[edit]

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