ATP2B3 wt Allele

Preferred Label : ATP2B3 wt Allele;

NCIt synonyms : Cerebellar Ataxia 2 (X-Linked) Gene; Spinocerebellar Ataxia, X-Linked 1 Gene; PMCA3; CLA2; ATPase, Ca(2 )-Transporting, Plasma Membrane, 3 Gene; OPCA; Plasma Membrane Ca(2 )-ATPase, Type 3 Gene; PMCA3a; SCAX1; ATPase Plasma Membrane Ca2 Transporting 3 wt Allele; ATPase, Ca Transporting, Plasma Membrane 3 Gene;

NCIt definition : Human ATP2B3 wild-type allele is located within Xq28 and is approximately 65 kb in length. This allele, which encodes plasma membrane calcium-transporting ATPase 3 protein, is involved in both cation transport and ATP hydrolysis. Mutation of the gene is associated with spinocerebellar ataxia, X-linked type 1.;

GenBank Accession Number : U60414;

Détails

Origin ID

C113766;

UMLS CUI

C3811222;

Automatic exact mappings (from CISMeF team)
- ATPase plasma membrane Ca2+ transporting 3 [ORDO Gene]
- Atpase, ca(2+)-transporting, plasma membrane, 3 [OMIM gene]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Patent arterial duct [ORDO Disease]
- Posterior cortical atrophy [ORDO Disease]
- Spinocerebellar ataxia, X-linked 1 [OMIM Phenotype]
- X-linked spinocerebellar ataxia 1 [DO Concept]
- analgesia, Patient-Controlled [MeSH Descriptor]
- ductus arteriosus, patent [MeSH Descriptor]
- spinocerebellar ataxia, X-Linked 1 [MeSH Supplementary Concept]
OMIM relation
- Atpase, ca(2+)-transporting, plasma membrane, 3 [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
- Xq28 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Aldosterone-Producing Adrenal Cortical Adenoma [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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