Homo sapiens Gene: KCNJ11
Summary
InnateDB Gene IDBG-33833.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNJ11
Gene Name potassium inwardly-rectifying channel, subfamily J, member 11
Synonyms BIR; HHF2; IKATP; KIR6.2; PHHI; TNDM3
Species Homo sapiens
Ensembl Gene ENSG00000187486
Encoded Proteins
potassium inwardly-rectifying channel, subfamily J, member 11
potassium inwardly-rectifying channel, subfamily J, member 11
potassium inwardly-rectifying channel, subfamily J, member 11
potassium inwardly-rectifying channel, subfamily J, member 11
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:17385859-17389331
Strand Reverse strand
Band p15.1
Transcripts
ENST00000339994 ENSP00000345708
ENST00000528731 ENSP00000434755
ENST00000526747
ENST00000526912 ENSP00000432729
ENST00000528992 ENSP00000436479
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005242 inward rectifier potassium channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0015272 ATP-activated inward rectifier potassium channel activity
GO:0030506 ankyrin binding
GO:0030955 potassium ion binding
GO:0031072 heat shock protein binding
GO:0044325 ion channel binding
Biological Process
GO:0002931 response to ischemia
GO:0006006 glucose metabolic process
GO:0006112 energy reserve metabolic process
GO:0006813 potassium ion transport
GO:0007268 synaptic transmission
GO:0010107 potassium ion import
GO:0032355 response to estradiol
GO:0033198 response to ATP
GO:0033574 response to testosterone
GO:0042391 regulation of membrane potential
GO:0042493 response to drug
GO:0044281 small molecule metabolic process
GO:0046676 negative regulation of insulin secretion
GO:0050796 regulation of insulin secretion
GO:0050877 neurological system process
GO:0071316 cellular response to nicotine
GO:0071333 cellular response to glucose stimulus
GO:0071356 cellular response to tumor necrosis factor
GO:0071805 potassium ion transmembrane transport
GO:2001259 positive regulation of cation channel activity
Cellular Component
GO:0005635 nuclear envelope
GO:0005739 mitochondrion
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0008282 ATP-sensitive potassium channel complex
GO:0014704 intercalated disc
GO:0016021 integral component of membrane
GO:0030315 T-tubule
GO:0030673 axolemma
GO:0042383 sarcolemma
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0043231 intracellular membrane-bounded organelle
GO:0070852 cell body fiber
Orthologs
Species
Bos taurus
Mus musculus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
ATP sensitive Potassium channels pathway
Regulation of insulin secretion pathway
Integration of energy metabolism pathway
Neuronal System pathway
Inwardly rectifying K+ channels pathway
Potassium Channels pathway
Metabolism pathway
KEGG
Type II diabetes mellitus pathway
INOH
PID NCI
FOXA2 and FOXA3 transcription factor networks
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.248141 Hs.739067
RefSeq NM_000525 NM_001166290 XM_006718226
HUGO
OMIM
CCDS CCDS31436 CCDS53606
HPRD 09022
IMGT
EMBL
GenPept
RNA Seq Atlas