TBX5 T-box transcription factor 5
Gene ID: 6910, updated on 31-Mar-2024Gene type: protein coding
Also known as: HOS
- See all available tests in GTR for this gene
- Go to complete Gene record for TBX5
- Go to Variation Viewer for TBX5 variants
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 gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
| Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. GeneReviews: Not available | |
| Genome-wide association studies of the PR interval in African Americans. 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 identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. 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 | |
| Holt-Oram syndrome | See labs |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Identification of a novel percent mammographic density locus at 12q24. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. GeneReviews: Not available | |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-29) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-29) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q24.21
- Sequence:
- Chromosome: 12; NC_000012.12 (114353911..114408442, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBX5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TBX5 database
- Variation ViewerRelated Variants
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