GTR Home > Genes

TBX3 T-box transcription factor 3

Gene ID: 6926, updated on 5-Jan-2022
Gene type: protein coding
Also known as: UMS; XHL; TBX3-ISO

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic correction of PSA values using sequence variants associated with PSA levels.
GeneReviews: Not available
Genetic determinants of P wave duration and PR segment.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study of blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study of PR interval.
GeneReviews: Not available
Identification of a novel percent mammographic density locus at 12q24.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
GeneReviews: Not available
Ulnar-mammary syndrome
MedGen: C1866994OMIM: 181450GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-09-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-23)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
12q24.21
Sequence:
Chromosome: 12; NC_000012.12 (114670255..114684175, complement)
Total number of exons:
8

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center