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

    Gene ID: 3762, updated on 14-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
    mouse all
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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
    		not available
    Long QT syndrome 13
    MedGen: C3150733 OMIM: 613485 GeneReviews: Long QT Syndrome Overview
    		not available

    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 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 inward rectifier potassium channel activity IMP
    Inferred from Mutant Phenotype
    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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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