Preferred Label : KCNJ11 wt Allele;
NCIt synonyms : HHF2; PHHI; Inwardly Rectifing Potassium Channel Subfamily J Member 11 Gene; Inwardly-Rectifying Potassium Channel Subfamily J Member 11 Gene; KIR6.2; PNDM2; Potassium Channel, Inwardly Rectifying, Subfamily J, Member 11 Gene; TNDM3; MODY13; Beta-Cell Inward Rectifier Subunit Gene; IKATP; Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 Gene; Beta-Cell Inward Rectifier Gene; Potassium Voltage-Gated Channel Subfamily J Member 11 Gene; Inwardly Rectifying Potassium Channel KIR6.2 Gene; Potassium Inwardly Rectifying Channel Subfamily J Member 11 wt Allele; Potassium Channel Inwardly Rectifing Subfamily J Member 11 Gene; Potassium Channel, Inwardly Rectifying, BIR Subunit Gene; BIR;
NCIt definition : Human KCNJ11 wild-type allele is located in the vicinity of 11p15.1 and is approximately
24 kb in length. This allele, which encodes ATP-sensitive inward rectifier potassium
channel 11 protein, plays a role in potassium ion transport and in the regulation
of insulin secretion. Mutations in the gene are associated with familial hyperinsulinemic
hypoglycemia 2, maturity-onset diabetes of the young 13, transient neonatal diabetes
mellitus 3, permanent neonatal diabetes 2, with or without neurologic features, and
increased susceptibility to type 2 diabetes mellitus.;
NCI Metathesaurus CUI : CL1921901;
GenBank Accession Number : D50582;
Origin ID : C202640;
UMLS CUI : C5890882;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
