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Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[5][6]

TCF12
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTCF12, CRS3, HEB, HTF4, HsT17266, bHLHb20, TCF-12, transcription factor 12, p64
External IDsOMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for TCF12
Genomic location for TCF12
Band15q21.3Start56,918,623 bp[1]
End57,299,281 bp[1]
RNA expression pattern
PBB GE TCF12 208986 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001253862
NM_001253863
NM_001253864
NM_001253865
NM_011544

RefSeq (protein)

NP_001240791
NP_001240792
NP_001240793
NP_001240794
NP_035674

Location (UCSC)Chr 15: 56.92 – 57.3 MbChr 9: 71.84 – 72.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

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

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140262 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032228 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".

Further readingEdit

External linksEdit