CASQ2 wt Allele

Preferred Label : CASQ2 wt Allele;

NCIt synonyms : Calsequestrin 2 (Cardiac Muscle) Gene; Calsequestrin 2, Fast-Twitch, Cardiac Muscle Gene; PDIB2; Calsequestrin 2 wt Allele;

NCIt definition : Human CASQ2 wild-type allele is located in the vicinity of 1p13.1 and is approximately 69 kb in length. This allele, which encodes calsequestrin-2 protein, plays a role in calcium localization in cardiac muscle cells. Mutation of the gene is associated with catecholaminergic polymorphic ventricular tachycardia 2.;

NCI Metathesaurus CUI : CL1912898;

GenBank Accession Number : BC022288;

Details

Origin ID

C192752;

UMLS CUI

C5780746;

OMIM relation
- Calsequestrin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.1 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients