KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 [Homo sapiens (human)]

Gene Symbol	KCNJ11
Entrez Gene ID	3767
Full Name	potassium inwardly-rectifying channel, subfamily J, member 11
Synonyms	BIR, HHF2, IKATP, KIR6.2, MGC133230, PHHI, TNDM3
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:11 Map Location:11p15.1
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].
Disorder	MIM: 600937 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3);

mRNA	NM_000525, 62388887
Protein	NP_000516, 62388888
Product	ATP-sensitive inward rectifier potassium channel 11 isoform 1
RefSeq Status	REVIEWED
mRNA	NM_001166290, 261399883
Protein	NP_001159762, 261399884
Product	ATP-sensitive inward rectifier potassium channel 11 isoform 2
RefSeq Status	REVIEWED

KEGG

hsa04930

Type II diabetes mellitus

Pathway Interaction Database

hnf3bpathway

FOXA2 and FOXA3 transcription factor networks

Reactome

REACT_1505	Integration of energy metabolism
REACT_15380	Diabetes pathways
REACT_18325	Regulation of Insulin Secretion

Homo sapiens (human)	KCNJ11	NP_000516.3
Pan troglodytes (chimpanzee)	KCNJ11	XP_521849.2
Canis lupus familiaris (dog)	KCNJ11	XP_542519.1
Bos taurus (cattle)	KCNJ11	NP_001075067.1
Mus musculus (house mouse)	Kcnj11	NP_034732.1
Rattus norvegicus (Norway rat)	Kcnj11	NP_112648.2
Danio rerio (zebrafish)	kcnj11	NP_001034916.1

Process

ID	Name	Evidence
GO:0006006	glucose metabolic process	IMP
GO:0006112	energy reserve metabolic process	TAS
GO:0006811	ion transport	IEA
GO:0006813	potassium ion transport	IEA
GO:0010107	potassium ion import	ISS
GO:0033198	response to ATP	IDA
GO:0033574	response to testosterone stimulus	IEA
GO:0042391	regulation of membrane potential	IDA
GO:0042493	response to drug	IMP
GO:0046676	negative regulation of insulin secretion	IMP
GO:0050796	regulation of insulin secretion	IMP
GO:0050796	regulation of insulin secretion	TAS
GO:0050877	neurological system process	IMP

Component

ID	Name	Evidence
GO:0005739	mitochondrion	IEA
GO:0005783	endoplasmic reticulum	IEA
GO:0005792	microsome	IEA
GO:0005886	plasma membrane	TAS
GO:0005887	integral to plasma membrane	TAS
GO:0008282	ATP-sensitive potassium channel complex	ISS
GO:0030315	T-tubule	IEA

Function

ID	Name	Evidence
GO:0005244	voltage-gated ion channel activity	IEA
GO:0005524	ATP binding	ISS
GO:0008022	protein C-terminus binding	IEA
GO:0015272	ATP-activated inward rectifier potassium channel activity	ISS
GO:0030955	potassium ion binding	TAS

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000525	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	Full Length	$1196.30
NM_000525		ORF Sequence	$340.17
NM_001166290	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 2, mRNA.	Full Length	$801.27
NM_001166290		ORF Sequence	$264.48