TMPO wt Allele

Preferred Label : TMPO wt Allele;

NCIt synonyms : LAP2; TP; Thymopoietin wt Allele; LEMD4; CMD1T; PRO0868;

NCIt definition : Human TMPO wild-type allele is located in the vicinity of 12q22 and is approximately 34 kb in length. This allele, which encodes both lamina-associated polypeptide 2, isoform alpha and lamina-associated polypeptide 2, isoforms beta/gamma proteins, is involved in the maintenance of nuclear structure. Mutation of the gene is associated with cardiomyopathy dilated type 1T.;

NCIt note : The TMPO gene encodes 3 isoforms that are produced by alternative splicing that affects the 3' end of the transcript.;

GenBank Accession Number : NM_003276;

Details

Origin ID

C105101;

UMLS CUI

C3541334;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1t [OMIM Phenotype]
- Heat-shock protein, 90-kd, alpha, class a, member 1 [OMIM gene]
- Prothrombin time (PT) [LOINC component]
- Thymidine phosphorylase [OMIM gene]
- Thymopoietin [OMIM gene]
- dilated cardiomyopathy 1T [DO Concept]
- panic disorder [MeSH Descriptor]
- prothrombin time [MeSH Descriptor]
- thymopoietin [ORDO Gene]
OMIM relation
- Thymopoietin [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_in_chromosomal_location
- 12q22 [NCIt concept]

Keyword's position in hierarchy(ies) :

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