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KCNJ5 potassium inwardly rectifying channel subfamily J member 5 [ Homo sapiens (human) ]

Gene ID: 3762, updated on 2-Nov-2024

Summary

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Official Symbol
KCNJ5provided by HGNC
Official Full Name
potassium inwardly rectifying channel subfamily J member 5provided by HGNC
Primary source
HGNC:HGNC:6266
See related
Ensembl:ENSG00000120457 MIM:600734; AllianceGenome:HGNC:6266
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
CIR; GIRK4; KATP1; LQT13; KIR3.4
Summary
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
Expression
Biased expression in adrenal (RPKM 34.9), spleen (RPKM 8.6) and 4 other tissues See more
Orthologs
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Genomic context

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See KCNJ5 in Genome Data Viewer
Location:
11q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128891356..128921163)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128926287..128956088)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128761251..128791058)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4058 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4063 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128585502-128586027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5733 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:128587835-128588354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128596161-128596660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128603944-128604489 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene Fli-1 proto-oncogene, ETS transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128627636-128628136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128628137-128628637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128646623-128647228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654003-128654550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654551-128655097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128689257-128689763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5743 Neighboring gene uncharacterized LOC107984409 Neighboring gene Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128796283-128797283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808070-128808570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808571-128809071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128810609-128811109 Neighboring gene tumor protein p53 regulated apoptosis inducing protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840383-128840884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128840885-128841384 Neighboring gene Rho GTPase activating protein 32 Neighboring gene RNA, U6 small nuclear 876, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas. Tauber P, et al. Endocrinology, 2014 Apr. PMID 24506072
  2. Advances in research on G protein-coupled inward rectifier K(+) channel gene. Kang YA, et al. Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 2012 Aug. PMID 22954132
  3. Somatic mutations in the KCNJ5 gene raise the lateralization index: implications for the diagnosis of primary aldosteronism by adrenal vein sampling. Seccia TM, et al. J Clin Endocrinol Metab, 2012 Dec. PMID 23012392
  4. [Association between GIRK4 gene polymorphisms and insulin resistance in Xinjiang Uygur population]. Li NF, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012 Dec. PMID 23225057
  5. Role of KCNJ5 in familial and sporadic primary aldosteronism. Mulatero P, et al. Nat Rev Endocrinol, 2013 Feb. PMID 23229280

See all (149) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Research progress of KCNJ5 gene in aldosterone-producing adenoma].
    Title: [Research progress of KCNJ5 gene in aldosterone-producing adenoma].
  2. The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.
    Title: The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.
  3. KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.
    Title: KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.
  4. Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.
    Title: Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.
  5. Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.
    Title: Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.
  6. Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
    Title: Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
  7. A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).
    Title: A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).
  8. KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.
    Title: KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.
  9. Insight into the Phospholipid-Binding Preferences of Kir3.4.
    Title: Insight into the Phospholipid-Binding Preferences of Kir3.4.
  10. Aldosterone-producing adenoma-harbouring KCNJ5 mutations is associated with lower prevalence of metabolic disorders and abdominal obesity.
    Title: Aldosterone-producing adenoma-harbouring KCNJ5 mutations is associated with lower prevalence of metabolic disorders and abdominal obesity.
Submit: New GeneRIF Correction See all GeneRIFs (113)

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
Familial hyperaldosteronism type III
MedGen: C3838758 OMIM: 613677 GeneReviews: Not available
Compare labs
Long QT syndrome 13
MedGen: C3150733 OMIM: 613485 GeneReviews: Long QT Syndrome Overview
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G-protein activated inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
 PubMed 
contributes_to inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IC
Inferred by Curator
more info
 PubMed 
Process Evidence Code Pubs
involved_in membrane repolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential 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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transmembrane transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ventricular cardiac muscle cell membrane repolarization IC
Inferred by Curator
more info
 PubMed 
Component Evidence Code Pubs
part_of I(KACh) inward rectifier potassium channel complex ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
G protein-activated inward rectifier potassium channel 4
Names
IRK-4
cardiac ATP-sensitive potassium channel
heart KATP channel
inward rectifier K+ channel KIR3.4
potassium channel, inwardly rectifying subfamily J, member 5
potassium voltage-gated channel subfamily J member 5

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_023406.2 RefSeqGene

    Range
    5001..31652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_333

mRNA and Protein(s)

  1. NM_000890.5 → NP_000881.3  G protein-activated inward rectifier potassium channel 4

    See identical proteins and their annotated locations for NP_000881.3

    Status: REVIEWED

    Source sequence(s)
    AK312837, AP000920
    Consensus CDS
    CCDS8479.1
    UniProtKB/Swiss-Prot
    B2R744, P48544, Q6DK13, Q6DK14, Q92807
    UniProtKB/TrEMBL
    A0A5J6E2W8, H7CGH0
    Related
    ENSP00000433295.1, ENST00000529694.6
    Conserved Domains (2) summary
    pfam01007
    Location:54 → 193
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:200 → 371
    IRK_C; Inward rectifier potassium channel C-terminal domain

  2. NM_001354169.2 → NP_001341098.1  G protein-activated inward rectifier potassium channel 4

    Status: REVIEWED

    Source sequence(s)
    AP000920, BC069571, BX647543
    Consensus CDS
    CCDS8479.1
    UniProtKB/Swiss-Prot
    B2R744, P48544, Q6DK13, Q6DK14, Q92807
    UniProtKB/TrEMBL
    A0A5J6E2W8, H7CGH0
    Related
    ENSP00000339960.4, ENST00000338350.4
    Conserved Domains (2) summary
    pfam01007
    Location:54 → 193
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:200 → 371
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    128891356..128921163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542810.4 → XP_011541112.1  G protein-activated inward rectifier potassium channel 4 isoform X1

    See identical proteins and their annotated locations for XP_011541112.1

    UniProtKB/Swiss-Prot
    B2R744, P48544, Q6DK13, Q6DK14, Q92807
    UniProtKB/TrEMBL
    A0A5J6E2W8, H7CGH0
    Conserved Domains (2) summary
    pfam01007
    Location:54 → 193
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:200 → 371
    IRK_C; Inward rectifier potassium channel C-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    128926287..128956088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368729.1 → XP_054224704.1  G protein-activated inward rectifier potassium channel 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48544.2 GenPept UniProtKB/Swiss-Prot:P48544

Gene LinkOut

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