TCF12

From Wikipedia, the free encyclopedia
Jump to: navigation, search
TCF12
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TCF12, CRS3, HEB, HTF4, HsT17266, bHLHb20, TCF-12, transcription factor 12
External IDs MGI: 101877 HomoloGene: 40774 GeneCards: TCF12
RNA expression pattern
PBB GE TCF12 208986 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001253862
NM_001253863
NM_001253864
NM_001253865
NM_011544

RefSeq (protein)

NP_001240794.1
NP_035674.2

Location (UCSC) Chr 15: 56.92 – 57.3 Mb Chr 9: 71.84 – 72.11 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[3][4]

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.[4]

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

References[edit]

Further reading[edit]

External links[edit]