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, HH26
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 71,749,970 bp[2] End 72,019,153 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber ganglionic eminence hair follicle Achilles tendon stromal cell of endometrium corpus callosum optic nerve gastric mucosa gallbladder canal of the cervix Top expressed in medial ganglionic eminence dermis abdominal wall maxillary prominence conjunctival fornix medullary collecting duct vas deferens iris endocardial cushion atrioventricular valve More reference expression data BioGPS 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 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: 71.75 – 72.02 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]