KCNJ11

potassium inwardly rectifying channel subfamily J member 11

Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]

Known Variants357 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886048031	11:17,406,904	T/C	—	uncertain significance
rs955060881	11:17,407,051	C/T	—	uncertain significance
rs1457465996	11:17,407,246	C/T	—	uncertain significance
rs191682072	11:17,407,269	C/T	—	conflicting classifications of pathogenicity
rs182349583	11:17,407,298	C/T	—	conflicting classifications of pathogenicity
rs886048032	11:17,407,411	A/T	—	uncertain significance
rs767140617	11:17,407,429	C/A	—	uncertain significance
rs886048033	11:17,407,529	G/A	—	uncertain significance
rs547635594	11:17,407,604	C/A	—	conflicting classifications of pathogenicity
rs1272490539	11:17,407,617	G/C	—	uncertain significance
rs5206	11:17,407,618	T/C	—	conflicting classifications of pathogenicity
rs1591693562	11:17,407,624	G/C	—	uncertain significance
rs193101892	11:17,407,700	T/C	—	conflicting classifications of pathogenicity
rs886048035	11:17,407,734	G/A	—	uncertain significance
rs5207	11:17,407,765	T/A	—	uncertain significance
rs117976105	11:17,407,769	C/T	—	conflicting classifications of pathogenicity
rs147282653	11:17,407,780	T/C	—	conflicting classifications of pathogenicity
rs886048036	11:17,407,788	G/A	—	uncertain significance
rs886048037	11:17,407,920	C/T	—	uncertain significance
rs115826080	11:17,407,937	C/T	—	conflicting classifications of pathogenicity
rs79457490	11:17,407,979	T/C	—	conflicting classifications of pathogenicity
rs2285676	11:17,408,025	A/G	—	conflicting classifications of pathogenicity
rs5208	11:17,408,090	G/A	—	conflicting classifications of pathogenicity
rs886048038	11:17,408,155	G/A	—	uncertain significance
rs5209	11:17,408,178	C/T	—	conflicting classifications of pathogenicity
rs886048039	11:17,408,248	C/A	—	uncertain significance
rs5210	11:17,408,251	G/A	regulatory region variant	likely benign
rs886048040	11:17,408,367	G/C	—	uncertain significance
rs5212	11:17,408,374	G/A	—	conflicting classifications of pathogenicity
rs193076739	11:17,408,390	C/T	—	conflicting classifications of pathogenicity
rs5213	11:17,408,404	T/C	—	conflicting classifications of pathogenicity
rs886048041	11:17,408,416	C/T	—	uncertain significance
rs746850899	11:17,408,426	G/A	—	conflicting classifications of pathogenicity
rs1450567888	11:17,408,467	C/T	—	conflicting classifications of pathogenicity
rs1953566494	11:17,408,472	C/T	—	likely benign
rs2133378582	11:17,408,475	G/C	—	likely benign
rs2133378589	11:17,408,478	A/G	—	likely benign
rs1057070401	11:17,408,484	A/G	—	likely benign
rs41282930	11:17,408,485	G/A	missense variant	uncertain significance
rs184094021	11:17,408,487	G/A	—	likely benign
rs2496406933	11:17,408,490	G/A	—	likely benign
rs8175351	11:17,408,496	T/C	—	conflicting classifications of pathogenicity
rs2133378688	11:17,408,508	C/T	—	likely benign
rs1953567712	11:17,408,513	C/A	—	uncertain significance
rs777540229	11:17,408,516	T/C	—	uncertain significance
rs770375846	11:17,408,522	C/T	—	conflicting classifications of pathogenicity
rs753294641	11:17,408,523	G/A	—	likely benign
rs1233061680	11:17,408,527	C/T	—	uncertain significance
rs114613745	11:17,408,533	C/A	—	uncertain significance
rs371275937	11:17,408,534	G/A	—	uncertain significance
rs149141985	11:17,408,543	C/T	—	uncertain significance
rs143276279	11:17,408,544	G/A	—	conflicting classifications of pathogenicity
rs750689750	11:17,408,545	C/T	—	uncertain significance
rs758749160	11:17,408,546	G/A	—	uncertain significance
rs953771974	11:17,408,547	G/A	—	likely benign
rs1953569137	11:17,408,548	G/A	—	uncertain significance
rs5214	11:17,408,550	T/C	—	conflicting classifications of pathogenicity
rs2133378851	11:17,408,553	G/A	—	likely benign
rs755839409	11:17,408,555	C/T	—	uncertain significance
rs2133378861	11:17,408,556	G/A	—	likely benign
rs777788092	11:17,408,562	C/T	—	conflicting classifications of pathogenicity
rs797045635	11:17,408,575	A/G	—	uncertain significance
rs1591694628	11:17,408,577	G/A	—	conflicting classifications of pathogenicity
rs756762581	11:17,408,581	T/C	—	uncertain significance
rs1953570095	11:17,408,583	G/T	—	uncertain significance
rs761453394	11:17,408,593	A/G	—	uncertain significance
rs745379486	11:17,408,595	C/G	—	uncertain significance
rs1167377188	11:17,408,598	G/A	—	likely benign
rs771797701	11:17,408,599	C/T	—	uncertain significance
rs146255794	11:17,408,600	G/A	—	uncertain significance
rs2496407594	11:17,408,602	G/A	—	uncertain significance
rs747426640	11:17,408,604	C/T	—	likely benign
rs114215135	11:17,408,605	G/A	—	conflicting classifications of pathogenicity
rs2496407656	11:17,408,615	G/A	—	uncertain significance
rs2496407669	11:17,408,619	G/A	—	likely benign
rs1324969572	11:17,408,620	G/T	—	uncertain significance
rs770408379	11:17,408,622	C/A	—	conflicting classifications of pathogenicity
rs138125678	11:17,408,623	A/C	—	uncertain significance
rs5215	11:17,408,630	C/T	missense variant	association
rs538566992	11:17,408,631	G/A	—	likely benign
rs1564864998	11:17,408,634	G/T	—	uncertain significance
rs193929358	11:17,408,638	C/T	missense variant	benign
rs193929357	11:17,408,642	A/T	missense variant	benign
rs763728797	11:17,408,647	G/C	—	uncertain significance
rs753784994	11:17,408,649	G/A	—	likely benign
rs193929356	11:17,408,650	T/C	missense variant	pathogenic
rs587783675	11:17,408,651	A/G	missense variant	pathogenic
rs1554901583	11:17,408,659	G/T	—	uncertain significance
rs757254860	11:17,408,661	G/A	—	likely benign
rs778793458	11:17,408,665	C/T	—	uncertain significance
rs550315112	11:17,408,666	G/T	—	uncertain significance
rs1193170151	11:17,408,669	C/T	—	likely risk allele
rs1272384074	11:17,408,670	G/A	—	conflicting classifications of pathogenicity
rs2496408039	11:17,408,671	T/C	—	uncertain significance
rs746578913	11:17,408,673	C/A	—	uncertain significance
rs193929355	11:17,408,675	C/T	missense variant	pathogenic
rs2496408104	11:17,408,685	A/G	—	likely benign
rs369179692	11:17,408,687	T/C	—	uncertain significance
rs1197405390	11:17,408,690	G/A	—	uncertain significance
rs2133379120	11:17,408,694	A/C	—	uncertain significance

Showing 100 of 357 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.