ACTA2 actin alpha 2, smooth muscle
Gene ID: 59, updated on 4-Jan-2025Gene type: protein coding
Also known as: ACTSA; SMDYS
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- Go to complete Gene record for ACTA2
- Go to Variation Viewer for ACTA2 variants
Summary
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Aortic aneurysm, familial thoracic 6 | See labs |
| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available | |
| Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. GeneReviews: Not available | |
| Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview | See labs |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Moyamoya disease 5 | See labs |
| Multisystemic smooth muscle dysfunction syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-09-28) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-09-28) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 10q23.31
- Sequence:
- Chromosome: 10; NC_000010.11 (88935074..88991337, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACTA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACTA2 @ LOVD
- 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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