RYR2 wt Allele

Preferred Label : RYR2 wt Allele;

NCIt synonyms : RYR-2; ARVD2; ARVC2; Ryanodine Receptor 2 wt Allele; Kidney-Type Ryanodine Receptor Gene; VTSIP; Cardiac-Type Ryanodine Receptor Gene; Cardiac, Ryanodine Receptor Gene; Arrhythmogenic Right Ventricular Dysplasia 2 Gene; Islet-Type Ryanodine Receptor Gene; Ryanodine Receptor 2 (Cardiac) Gene; VACRDS; RyR;

NCIt definition : Human RYR2 wild-type allele is located in the vicinity of 1q43 and is approximately 792 kb in length. This allele, which encodes ryanodine receptor 2 protein, plays a role in heart development and cardiac muscle contraction. Mutations in the gene are associated with catecholaminergic polymorphic ventricular tachycardia 1 and ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.;

NCI Metathesaurus CUI : CL1927438;

GenBank Accession Number : X91869;

Details

Origin ID

C204960;

OMIM relation
- Ryanodine receptor 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q43 [NCIt concept]
gene_is_element_in_pathway
- 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]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Myogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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