ATP-sensitive inward rectifier potassium channel 8

UniProt Q15842 Organism Homo sapiens Gene KCNJ8

Also known as: KCNJ8

Function

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium. Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with ABCC9 (By similarity).

Classification

Family (Pfam): PF01007 IRK, PF17655 IRK_C
InterPro: Ig_E-set, IRK_C, K_chnl_inward-rec_Kir, K_chnl_inward-rec_Kir6.1, K_chnl_inward-rec_Kir_cyto, Kir_TM
Functional cluster: Cytochrome P450 & Heme Enzymes

Gene Ontology · 22

Disease associations

hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406
obsolete sudden infant death syndrome MONDO:0010086

Drugs targeting this protein · 3

DIAZOXIDE opener
SARAKALIM opener
NAMINIDIL opener

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

ATP-sensitive inward rectifier potassium channel 11 1 shared papers

Literature · 9 cited papers

Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. J. Biol. Chem. · 2017
Cantu syndrome resulting from activating mutation in the KCNJ8 gene. Hum. Mutat. · 2014
Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur. J. Med. Genet. · 2013
Loss-of-function mutations in the KCNJ8-encoded Kir6.1 KATP channel and sudden infant death syndrome. Circ. Cardiovasc. Genet. · 2011
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm · 2010
J wave syndromes. Heart Rhythm · 2010
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel. Gene · 1998
cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). Genomics · 1995

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