TBX20 T-box transcription factor 20
Gene ID: 57057, updated on 14-Nov-2024Gene type: protein coding
Also known as: ASD4
- See all available tests in GTR for this gene
- Go to complete Gene record for TBX20
- Go to Variation Viewer for TBX20 variants
Summary
This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atrial septal defect 4 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-05-10) ClinGen Genome Curation PageHaploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2023-05-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 7p14.2
- Sequence:
- Chromosome: 7; NC_000007.14 (35202430..35254100, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBX20 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
- Variation ViewerRelated Variants
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