TCF12

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

TCF12
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KNH, 4JOL
Identifiers
Aliases	TCF12, CRS3, HEB, HTF4, HsT17266, bHLHb20, TCF-12, transcription factor 12, p64
External IDs	OMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.3 Start 56,918,623 bp[1] End 57,299,281 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 D|9 39.85 cM Start 71,842,688 bp[2] End 72,111,871 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • protein dimerization activity • protein homodimerization activity • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • HMG box domain binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • bHLH transcription factor binding • E-box binding • GO:0001948 protein binding • protein heterodimerization activity • SMAD binding • cAMP response element binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cytoplasm • transcription regulator complex • RNA polymerase II transcription factor complex • nuclear chromatin • cell nucleus • nuclear speck • intracellular membrane-bounded organelle • nucleoplasm Biological process • cell differentiation • regulation of transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • muscle organ development • transcription, DNA-templated • nervous system development • multicellular organism development • positive regulation of transcription, DNA-templated • positive regulation of gene expression • positive regulation of neuron differentiation • immune response • positive regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • regulation of hematopoietic stem cell differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6938	21406
Ensembl	ENSG00000140262	ENSMUSG00000032228
UniProt	Q99081	Q61286
RefSeq (mRNA)	NM_001306219 NM_001306220 NM_003205 NM_207036 NM_207037 NM_207038 NM_207040 NM_001322151 NM_001322152 NM_001322154 NM_001322156 NM_001322157 NM_001322158 NM_001322159 NM_001322161 NM_001322162 NM_001322164 NM_001322165	NM_001253862 NM_001253863 NM_001253864 NM_001253865 NM_011544
RefSeq (protein)	NP_001293148 NP_001293149 NP_001309080 NP_001309081 NP_001309083 NP_001309085 NP_001309086 NP_001309087 NP_001309088 NP_001309090 NP_001309091 NP_001309093 NP_001309094 NP_003196 NP_996919 NP_996920 NP_996921 NP_996923	NP_001240791 NP_001240792 NP_001240793 NP_001240794 NP_035674
Location (UCSC)	Chr 15: 56.92 – 57.3 Mb	Chr 9: 71.84 – 72.11 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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] TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism.[7] Mutations in this gene have also been associated with cases of coronal craniosynostosis.[8]

TCF12 is the primary heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity.[9]