GAS2 growth arrest specific 2
Gene ID: 2620, updated on 11-Jan-2025Gene type: protein coding
Also known as: GAS-2; DFNB125
- See all available tests in GTR for this gene
- Go to complete Gene record for GAS2
- Go to Variation Viewer for GAS2 variants
Summary
The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
| Hearing loss, autosomal recessive 125 | not available |
Genomic context
- Location:
- 11p14.3
- Sequence:
- Chromosome: 11; NC_000011.10 (22626002..22813055)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GAS2 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
- Variation ViewerRelated Variants
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