TCF12

Transcription factor 12
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TCF12 ; CRS3; HEB; HTF4; HsT17266; TCF-12; bHLHb20
External IDs OMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 6938 21406
Ensembl ENSG00000140262 ENSMUSG00000032228
UniProt Q99081 Q61286
RefSeq (mRNA) NM_001306219 NM_001253862
RefSeq (protein) NP_001293148 NP_001240791
Location (UCSC) Chr 15:
56.92 – 57.3 Mb
Chr 9:
71.84 – 72.11 Mb
PubMed search

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

Further reading

External links

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