MYH9 wt Allele

Preferred Label : MYH9 wt Allele;

NCIt synonyms : Myosin, Heavy Chain 9, Non-Muscle Gene; MGC104539; RP1-68O2.1; EPSTS; NMMHCA; NMHC-II-A; DFNA17; Myosin, Heavy Polypeptide 9, Non-Muscle Gene; MHA; FTNS; Nonmuscle Myosin Heavy Chain II-A Gene; Myosin Heavy Chain 9 wt Allele;

NCIt definition : Human MYH9 wild-type allele is located in the vicinity of 22q13.1 and is approximately 107 kb in length. This allele, which encodes myosin-9 protein, plays a role in both cytokinesis and cell shape. Mutation of the gene is associated with May-Hegglin anomaly, non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness and non-diabetic end stage renal disease. A chromosomal translocation t(2;22)(p23;q12) of this gene and the ALK gene is associated with anaplastic large cell lymphoma.;

GenBank Accession Number : NM_002473;

Details

Origin ID

C97648;

UMLS CUI

C3273545;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal dominant 17 [OMIM Phenotype]
- Fechtner syndrome [OMIM Phenotype]
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
- Myosin, heavy chain 9, nonmuscle [OMIM gene]
- anemia, hemolytic [MeSH Descriptor]
- autosomal dominant nonsyndromic deafness 17 [DO Concept]
- myosin heavy chain 9 [ORDO Gene]
OMIM relation
- Myosin, heavy chain 9, nonmuscle [OMIM gene]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
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_in_chromosomal_location
- 22q13.1 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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