ATPase H transporting V0 subunit a2

Preferred Label : ATPase H transporting V0 subunit a2;

Approved symbol HGNC : ATP6V0A2;

Name synonyms HGNC : infantile malignant osteopetrosis; V-ATPase subunit a2; V-type proton ATPase 116 kDa subunit a2; regeneration and tolerance factor;

Alias symbols HGNC : TJ6; a2; J6B7; TJ6s; ATP6a2; ATP6N1D; TJ6M; Vph1; Stv1; RTF; a2V;

Chromosome HGNC : 12q24.31;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000185344;

Details

Origin ID

HGNC:18481;

UMLS CUI

C1425544;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting V0 subunit a2 [ORDO Gene]
- Atpase, h+ transporting, lysosomal, v0 subunit a2 [OMIM gene]
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
- Infantile malignant osteopetrosis (disorder) [SNOMED CT concept]
- infantile malignant osteopetrosis [SNOMED Notion]
OMIM gene
- Atpase, h+ transporting, lysosomal, v0 subunit a2 [OMIM gene]
Orphanet gene
- ATPase H+ transporting V0 subunit a2 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Atpase, h+ transporting, lysosomal, v0 subunit a2 [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients