ACTA2 wt Allele

Preferred Label : ACTA2 wt Allele;

NCIt synonyms : AAT6; MYMY5; GIG46; ACTSA; Actin Alpha 2, Smooth Muscle wt Allele; ACTVS; Actin, Alpha, Smooth Muscle, Aortic Gene; Actin, Alpha-2, Smooth Muscle, Aorta Gene; Actin, Vascular Smooth Muscle; Actin, Alpha 2, Smooth Muscle, Aorta Gene;

NCIt definition : Human ACTA2 wild-type allele is located in the vicinity of 10q23.3 and is approximately 56 kb in length. This allele, which encodes actin, aortic smooth muscle protein, is involved in smooth muscle cell contraction. Mutations of this gene predispose patients to a variety of diffuse and diverse vascular diseases, including premature onset coronary artery disease, premature ischemic strokes, familial aortic aneurysm thoracic type 6, Moyamoya disease type 5 and multisystemic smooth muscle dysfunction syndrome.;

GenBank Accession Number : X13839;

Details

Origin ID

C103971;

UMLS CUI

C3538751;

Automatic exact mappings (from CISMeF team)
- Actin, alpha-2, smooth muscle, aorta [OMIM gene]
- Aortic aneurysm, familial thoracic 6 [OMIM Phenotype]
- Moyamoya disease 5 [OMIM Phenotype]
- actin alpha 2, smooth muscle [ORDO Gene]
- aortic aneurysm, familial thoracic 6 [MeSH Supplementary Concept]
OMIM relation
- Actin, alpha-2, smooth muscle, aorta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- PDGFR-beta Signaling Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Motility [NCIt concept]
- Cell Movement [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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