KCNJ11 Gene - CISMeF

Preferred Label : KCNJ11 Gene;

NCIt synonyms : Potassium Inwardly Rectifying Channel Subfamily J Member 11 Gene;

NCIt related terms : KCNJ11;

NCIt definition : This gene is involved in the cellular uptake of potassium ions; in pancreatic beta cells it regulates glucose-induced insulin secretion.;

Détails

Origin ID

C202639;

UMLS CUI

C3715126;

HGNC gene
- potassium inwardly rectifying channel subfamily J member 11 [HGNC gene]
OMIM relation
- Potassium channel, inwardly rectifying, subfamily j, member 11 [OMIM gene]
Semantic type(s)
- Laboratory Procedure [UMLS semantic type]
gene_encodes_gene_product
- ATP-Sensitive Inward Rectifier Potassium Channel 11 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Diffuse KATP-Associated Hyperinsulinism [NCIt concept]
- Focal KATP-Associated Hyperinsulinism [NCIt concept]
- Kir6.2-Associated Diabetes Mellitus [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Myogenesis [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]
genetic_biomarker_related_to
- Focal KATP-Associated Hyperinsulinism [NCIt concept]
- K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes [NCIt concept]
- K ATP Associated Transient Neonatal Diabetes Mellitus [NCIt concept]
- K ATP Channel-Associated Diabetes Mellitus [NCIt concept]
- K ATP Permanent Neonatal Diabetes [NCIt concept]
- KATP-Associated Hyperinsulinism [NCIt concept]

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