CA2 wt Allele - CISMeF

Preferred Label : CA2 wt Allele;

NCIt synonyms : CA-II; HEL-S-282; HEL-76; Car2; CAII; Carbonic Anhydrase 2 wt Allele; CAC;

NCIt definition : Human CA2 wild-type allele is located in the vicinity of 8q21.2 and is approximately 18 kb in length. This allele, which encodes carbonic anhydrase 2 protein, plays a role in hydration of carbon dioxide, bone resorption and osteoclast differentiation. Mutation of the gene is associated with autosomal recessive osteopetrosis 3.;

NCI Metathesaurus CUI : CL1771397;

GenBank Accession Number : J03037;

Details

Origin ID

C183173;

UMLS CUI

C5575449;

Automatic exact mappings (from CISMeF team)
- Chronic angle-closure [ICD-11 Sub-sub category]
- Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [OMIM gene]
- carbonic anhydrase 2 [ORDO Gene]
- solute carrier family 25 member 20 [ORDO Gene]
OMIM relation
- Carbonic anhydrase II [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_is_element_in_pathway
- Adherens Junction Formation Pathway [NCIt concept]
- Collecting Duct Acid Secretion Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Nitrogen Metabolism Pathway [NCIt concept]
- Proximal Tubule Bicarbonate Reclamation Pathway [NCIt concept]
gene_plays_role_in_process
- Musculoskeletal Process [NCIt concept]
- Odontogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- pH Homeostasis [NCIt concept]

Keyword's position in hierarchy(ies) :

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