PRKAG2 wt Allele

Preferred Label : PRKAG2 wt Allele;

NCIt synonyms : WPWS; AAKG2; CMH6; Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 wt Allele; AAKG; H91620p; Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit Gene;

NCIt definition : Human PRKAG2 wild-type allele is located in the vicinity of 7q36.1 and is approximately 321 kb in length. This allele, which encodes 5'-AMP-activated protein kinase subunit gamma-2 protein, plays a role in the regulation of cellular energy consumption. Mutations in the gene are associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart.;

NCI Metathesaurus CUI : CL1643479;

GenBank Accession Number : AF087875;

Details

Origin ID

C177660;

UMLS CUI

C5443973;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, familial hypertrophic, 6 [OMIM Phenotype]
- hypertrophic cardiomyopathy 6 [DO Concept]
- protein kinase AMP-activated non-catalytic subunit gamma 2 [ORDO Gene]
OMIM relation
- Protein kinase, amp-activated, noncatalytic, gamma-2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q36.1 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- Circadian Rhythm Pathway KEGG [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Energy Metabolism Process [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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