TCF12

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, HH26
External IDs	OMIM: 600480; MGI: 101877; HomoloGene: 40774; GeneCards: TCF12; OMA:TCF12 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	57,299,281 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	72,019,153 bp
RNA expression pattern
	Top expressed in
	periodontal fiber; ; ventricular zone; ; ganglionic eminence; ; hair follicle; ; epithelium of colon; ; Achilles tendon; ; stromal cell of endometrium; ; corpus callosum; ; optic nerve; ; mucosa of paranasal sinus;
	Top expressed in
	genital tubercle; ; medial ganglionic eminence; ; dermis; ; abdominal wall; ; tail of embryo; ; maxillary prominence; ; mandibular prominence; ; human fetus; ; conjunctival fornix; ; medullary collecting duct;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein dimerization activity; protein homodimerization activity; DNA-binding transcription factor activity; HMG box domain binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; bHLH transcription factor binding; E-box binding; protein binding; protein heterodimerization activity; SMAD binding; cAMP response element binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; transcription regulator complex; RNA polymerase II transcription regulator complex; nucleus; nuclear speck; intracellular membrane-bounded organelle; nucleoplasm;
Biological process	cell differentiation; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; 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 by RNA polymerase II; transcription by RNA polymerase II; regulation of hematopoietic stem cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
	6938
	21406
	ENSG00000140262
	ENSMUSG00000032228
	Q99081
	Q61286
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.

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. TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism. Mutations in this gene have also been associated with cases of coronal craniosynostosis.

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