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

Summary

Official Symbol: KCNJ11provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 11provided by HGNC
Primary source: HGNC:HGNC:6257
See related: Ensembl:ENSG00000187486 MIM:600937; AllianceGenome:HGNC:6257
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13
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]
Expression: Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (17385248..17389346, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (17482848..17486946, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (17406795..17410893, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
Title: Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
Title: An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
Title: Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
Title: Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
Protection against Ischemic Heart Disease: A Joint Role for eNOS and the KATP Channel.
Title: Protection against Ischemic Heart Disease: A Joint Role for eNOS and the K(ATP) Channel.
Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.
Title: Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.
Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
Title: Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
Title: Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.
Title: The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.
KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.
Title: KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (296)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus, permanent neonatal 2 MedGen: C5394296 OMIM: 618856 GeneReviews: Not available	not available
Diabetes mellitus, transient neonatal, 3 MedGen: C1864623 OMIM: 610582 GeneReviews: Not available	not available
Hyperinsulinemic hypoglycemia, familial, 2 MedGen: C2931833 OMIM: 601820 GeneReviews: Nonsyndromic Genetic Hyperinsulinism Overview	not available
Maturity-onset diabetes of the young type 13 MedGen: C4225365 OMIM: 616329 GeneReviews: Maturity-Onset Diabetes of the Young Overview	not available
Permanent neonatal diabetes mellitus MedGen: C1833104 GeneReviews: Permanent Neonatal Diabetes Mellitus	not available
Type 2 diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	not available

EBI GWAS Catalog

Description
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80766 (e-PCR)
- UniSTS:87816

NoName (e-PCR)
- UniSTS:486675

KCNJ11_V176 (e-PCR)
- UniSTS:467733

KCNJ11_868.2 (e-PCR)
- UniSTS:467733

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D15S1477 (e-PCR)
- UniSTS:474482

RH36905 (e-PCR)
- UniSTS:87932

RH41979 (e-PCR)
- UniSTS:47067

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables ATP binding	TAS Traceable Author Statement more info
enables ATP-activated inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-activated inward rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-activated inward rectifier potassium channel activity	NAS Non-traceable Author Statement more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IEA Inferred from Electronic Annotation more info
enables potassium ion binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS Non-traceable Author Statement more info	PubMed
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CAMKK-AMPK signaling cascade	IEA Inferred from Electronic Annotation more info
involved_in action potential	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic cation transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion	TAS Traceable Author Statement more info
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to resveratrol	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in axolemma	IEA Inferred from Electronic Annotation more info
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
part_of inward rectifying potassium channel	IDA Inferred from Direct Assay more info	PubMed
part_of inward rectifying potassium channel	IPI Inferred from Physical Interaction more info	PubMed
part_of inward rectifying potassium channel	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATP-sensitive inward rectifier potassium channel 11

Names: beta-cell inward rectifier subunit; inward rectifier K(+) channel Kir6.2; inwardly rectifing potassium channel subfamily J member 11; inwardly rectifying potassium channel KIR6.2; inwardly-rectifying potassium channel subfamily J member 11; potassium channel inwardly rectifing subfamily J member 11; potassium channel, inwardly rectifying subfamily J member 11; potassium voltage-gated channel subfamily J member 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012446.1 RefSeqGene

Range

5001..8412

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000525.4 → NP_000516.3 ATP-sensitive inward rectifier potassium channel 11 isoform 1

See identical proteins and their annotated locations for NP_000516.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC124798

Consensus CDS

CCDS31436.1

UniProtKB/Swiss-Prot

B4DWI4, E9PNK0, Q14654, Q2M1H7, Q58EX3, Q8IW96

UniProtKB/TrEMBL

B2RC52, D2K1F9, V5QDK6, V5QEK6, V5QFN8

Related

ENSP00000345708.4, ENST00000339994.5

Conserved Domains (1) summary

pfam01007
Location:36 → 357

IRK; Inward rectifier potassium channel
NM_001166290.2 → NP_001159762.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2

See identical proteins and their annotated locations for NP_001159762.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks 5' coding region sequence, compared to variant 1. Variant 2 uses a downstream start codon, which results in a protein (isoform 2) with a shorter N-terminus when it is compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).

Source sequence(s)

AC124798, AI377272, AK301550

Consensus CDS

CCDS53606.1

UniProtKB/TrEMBL

A0A804HHV7

Related

ENSP00000434755.1, ENST00000528731.1

Conserved Domains (2) summary

pfam17655
Location:94 → 264

IRK_C; Inward rectifier potassium channel C-terminal domain

cl21560
Location:1 → 87

Ion_trans_2; Ion channel
NM_001377296.1 → NP_001364225.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.

Source sequence(s)

AC124798

Consensus CDS

CCDS53606.1

UniProtKB/TrEMBL

A0A804HHV7

Conserved Domains (2) summary

pfam17655
Location:94 → 264

IRK_C; Inward rectifier potassium channel C-terminal domain

cl21560
Location:1 → 87

Ion_trans_2; Ion channel
NM_001377297.1 → NP_001364226.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.

Source sequence(s)

AC124798

Consensus CDS

CCDS53606.1

UniProtKB/TrEMBL

A0A804HHV7

Related

ENSP00000508090.1, ENST00000682350.1

Conserved Domains (2) summary

pfam17655
Location:94 → 264

IRK_C; Inward rectifier potassium channel C-terminal domain

cl21560
Location:1 → 87

Ion_trans_2; Ion channel