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

Gene ID: 3767, updated on 25-Jan-2022

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
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Genomic context

See KCNJ11 in Genome Data Viewer
Location:
11p15.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17385246..17389346, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17406795..17410893, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376576 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene uncharacterized LOC107984316 Neighboring gene ATP binding cassette subfamily C member 8 Neighboring gene VISTA enhancer hs1977 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133230

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
PubMed 
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 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 inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of inward rectifying potassium channel IDA
Inferred from Direct Assay
more info
PubMed 
part_of inward rectifying potassium channel ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

  1. NG_012446.1 RefSeqGene

    Range
    5001..8412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000525.4NP_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/TrEMBL
    B2RC52
    Related
    ENSP00000345708.4, ENST00000339994.5
    Conserved Domains (1) summary
    pfam01007
    Location:36357
    IRK; Inward rectifier potassium channel
  2. NM_001166290.2NP_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/Swiss-Prot
    Q14654
    Related
    ENSP00000434755.1, ENST00000528731.1
    Conserved Domains (2) summary
    pfam17655
    Location:94264
    IRK_C; Inward rectifier potassium channel C-terminal domain
    cl21560
    Location:187
    Ion_trans_2; Ion channel
  3. NM_001377296.1NP_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
    Conserved Domains (2) summary
    pfam17655
    Location:94264
    IRK_C; Inward rectifier potassium channel C-terminal domain
    cl21560
    Location:187
    Ion_trans_2; Ion channel
  4. NM_001377297.1NP_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
    Related
    ENSP00000508090.1, ENST00000682350.1
    Conserved Domains (2) summary
    pfam17655
    Location:94264
    IRK_C; Inward rectifier potassium channel C-terminal domain
    cl21560
    Location:187
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    17385246..17389346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017680.1XP_016873169.1  ATP-sensitive inward rectifier potassium channel 11 isoform X1

    Conserved Domains (2) summary
    pfam17655
    Location:94264
    IRK_C; Inward rectifier potassium channel C-terminal domain
    cl21560
    Location:187
    Ion_trans_2; Ion channel
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