Gene: TCF12

Alternate names for this Gene: CRS3|HEB|HTF4|HsT17266|TCF-12|bHLHb20|p64

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.3

Description of this Gene: transcription factor 12

Type of Gene: protein-coding

rs997683 in TCF12 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs2593235 in TCF12 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs36060670 in TCF12 gene and CRANIOSYNOSTOSIS 3 PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 23354436 2013 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

PMID 24736737 2014 Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

rs72731954 in TCF12 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2733310 in TCF12 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs72731954 in TCF12 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.