ACTG1 wt Allele

Preferred Label : ACTG1 wt Allele;

NCIt synonyms : Actin Gamma 1 wt Allele; HEL-176; ACT; DFNA20; Actin, Cytoplasmic, 2 Gene; ACTG; Deafness, Autosomal Dominant 26 Gene; DFNA26; Actin, Gamma Gene; Deafness, Autosomal Dominant 20 Gene; Deafness, Autosomal Dominant 20/26 Gene;

NCIt definition : Human ACTG1 wild-type allele is located in the vicinity of 17q25.3 and is approximately 44 kb in length. This allele, which encodes actin, cytoplasmic 2 protein, is involved in cell motility. Mutation of the gene is associated with autosomal dominant non-syndromic sensorineural progressive hearing loss and Baraitser-Winter syndrome.;

NCI Metathesaurus CUI : CL551892;

GenBank Accession Number : NM_001614;

Details

Origin ID

C150160;

UMLS CUI

C4723674;

Automatic exact mappings (from CISMeF team)
- Actin, gamma-1 [OMIM gene]
- Acyl-coa thioesterase 7 [OMIM gene]
- Deafness, autosomal dominant 20 [OMIM Phenotype]
- Four-and-a-half lim domains 5 [OMIM gene]
- Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [ORDO Gene]
- Serpin peptidase inhibitor, clade a, member 3 [OMIM gene]
- actaea [MeSH Descriptor]
- actins [MeSH Descriptor]
- australian capital territory [MeSH Descriptor]
- autosomal dominant nonsyndromic deafness 20 [DO Concept]
- deafness, autosomal dominant 20 [MeSH Supplementary Concept]
OMIM relation
- Actin, gamma-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- HIV-I Nef in Apoptosis Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
- Vibrio cholerae Infection Pathway [NCIt concept]
- Viral Myocarditis 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) :

Main resources

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