ANKRD26 wt Allele

Preferred Label : ANKRD26 wt Allele;

NCIt synonyms : Thrombocytopenia 2 (Autosomal Dominant) Gene; KIAA1074; Ankyrin Repeat Domain 26 wt Allele; THC2; bA145E8.1;

NCIt definition : Human ANKRD26 wild-type allele is located in the vicinity of 10p12.1 and is approximately 134 kb in length. This allele, which encodes ankyrin repeat domain-containing protein 26, is involved in adipogenesis, appetite and platelet functions. Mutations in the 5' promoter region of this gene that result in increased expression are associated with autosomal dominant thrombocytopenia 2.;

NCIt note : Pseudogenes of the ANKRD26 gene are found on chromosome 7, 10, 13 and 16.;

NCI Metathesaurus CUI : CL553264;

GenBank Accession Number : AB028997;

Details

Origin ID

C151925;

UMLS CUI

C4723886;

Automatic exact mappings (from CISMeF team)
- Ankyrin repeat domain-containing protein 26 [OMIM gene]
- Thrombocytopenia 2 [OMIM Phenotype]
- ankyrin repeat domain containing 26 [ORDO Gene]
- microtubule associated serine/threonine kinase like [ORDO Gene]
OMIM relation
- Ankyrin repeat domain-containing protein 26 [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
- 10p12.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline ANKRD26 Mutation [NCIt concept]
gene_plays_role_in_process
- Adipogenesis [NCIt concept]
- Appetite [NCIt concept]

Keyword's position in hierarchy(ies) :

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