KCNJ5 wt Allele

Preferred Label : KCNJ5 wt Allele;

NCIt synonyms : CIR; KATP1; Cardiac ATP-Sensitive Potassium Channel Gene; Potassium Inwardly-Rectifying Channel, Subfamily J, Member 5 Gene; LQT13; GIRK4; KIR3.4; Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 Gene; Potassium Voltage-Gated Channel Subfamily J Member 5 wt Allele; BX647543;

NCIt definition : Human KCNJ5 wild-type allele is located in the vicinity of 11q24 and is approximately 27 kb in length. This allele, which encodes G protein-activated inward rectifier potassium channel 4, plays a role in the modulation of potassium flux. Mutations in the gene are associated with long QT syndrome type 13.;

NCIt note : Mutations in the KCNJ5 gene may be associated with the severe hypertension found in patients with aldosterone-producing adrenal adenomas. (Science 2011: 331; 768-772.);

GenBank Accession Number : D50134;

Details

Origin ID

C95839;

UMLS CUI

C3272383;

Automatic exact mappings (from CISMeF team)
- Corepressor interacting with rbpj, 1 [OMIM gene]
- Long qt syndrome 13 [OMIM Phenotype]
- Potassium channel, inwardly rectifying, subfamily j, member 5 [OMIM gene]
- potassium inwardly rectifying channel subfamily J member 5 [ORDO Gene]
OMIM relation
- Potassium channel, inwardly rectifying, subfamily j, member 5 [OMIM gene]
See also inter- (CISMeF)
- long QT syndrome 13 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q24 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Adrenal Cortical Clear Cell Adenoma [NCIt concept]
- Adrenal Cortical Compact Cell Adenoma [NCIt concept]
- Adrenal Cortical Glomerulosa Cell Adenoma [NCIt concept]
- Adrenal Cortical Mixed Cell Adenoma [NCIt concept]
- Aldosterone-Producing Adrenal Cortical Adenoma [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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