TPM2 wt Allele

Preferred Label : TPM2 wt Allele;

NCIt synonyms : DA2B; DA1; HEL-S-273; Nemaline Myopathy Type 4 Gene; Tropomyosin 2 (Beta) wt Allele; NEM4; Tropomyosin, Skeletal Muscle Beta Gene; AMCD1; Arthrogryposis Multiplex Congenital, Distal, Type 1 Gene; TMSB;

NCIt definition : Human TPM2 wild-type allele is located in the vicinity of 9p13 and is approximately 9 kb in length. This allele, which encodes tropomyosin beta chain protein, is involved in muscle contraction. Mutation of the gene is associated with nemaline myopathy type 4, cap myopathy type 2 and distal arthrogryposis types 1A and 2B.;

GenBank Accession Number : NM_003289;

Details

Origin ID

C115002;

UMLS CUI

C3889998;

Automatic exact mappings (from CISMeF team)
- Arthrogryposis, distal, type 2b1 [OMIM Phenotype]
- Distal arthrogryposis type 1 [ORDO Disease]
- Multiple endocrine neoplasia type 4 [ORDO Disease]
- Nemaline myopathy 4 [OMIM Phenotype]
- Tropomyosin 2 [OMIM gene]
- arthrogryposis multiplex congenita, distal type 1 [MeSH Supplementary Concept]
- distal arthrogryposis type 1 [DO Concept]
- distal arthrogryposis type 2B [DO Concept]
- tropomyosin 2 [ORDO Gene]
- troponin I2, fast skeletal type [ORDO Gene]
- troponin T3, fast skeletal type [ORDO Gene]
OMIM relation
- Tropomyosin 2 [OMIM gene]
See also inter- (CISMeF)
- Arthrogryposis, distal, type 1a [OMIM Phenotype]
- nemaline myopathy 4 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p13 [NCIt concept]
gene_is_element_in_pathway
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- 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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