ATP2A2 wt Allele

Preferred Label : ATP2A2 wt Allele;

NCIt synonyms : ATP2B; Sarcoplasmic Reticulum Ca(2 )-ATPase 2 Gene; SERCA2; DAR; ATPase, Ca Transporting, Cardiac Muscle, Slow Twitch 2 wt Allele; DD; ATPase, Ca Dependent, Slow-Twitch, Cardiac Muscle-2 Gene;

NCIt definition : Human ATP2A2 wild-type allele is located in the vicinity of 12q24.11 and is approximately 70 kb in length. This allele, which encodes sarcoplasmic/endoplasmic reticulum calcium ATPase 2 protein, is involved in the modulation of cardiac muscle contractility. Mutation of the gene is associated with both Darier disease and acrokeratosis verruciformis.;

GenBank Accession Number : NM_001681;

Details

Origin ID

C106417;

UMLS CUI

C3814791;

Automatic exact mappings (from CISMeF team)
- ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [ORDO Gene]
- Atpase, ca(2+)-transporting, slow-twitch [OMIM gene]
- Darier-white disease [OMIM Phenotype]
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Dentin dysplasia [ORDO Disease]
- Diastrophic dysplasia [OMIM Phenotype]
- aldo-keto reductase family 1 member C2 [ORDO Gene]
- anesthesia department, hospital [MeSH Descriptor]
OMIM relation
- Atpase, ca(2+)-transporting, slow-twitch [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.11 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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