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KCNJ9 potassium inwardly rectifying channel subfamily J member 9 [ Homo sapiens (human) ]

Gene ID: 3765, updated on 5-Mar-2024

Summary

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Official Symbol
KCNJ9provided by HGNC
Official Full Name
potassium inwardly rectifying channel subfamily J member 9provided by HGNC
Primary source
HGNC:HGNC:6270
See related
Ensembl:ENSG00000162728 MIM:600932; AllianceGenome:HGNC:6270
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
GIRK3; KIR3.3
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. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward brain (RPKM 8.9) See more
Orthologs
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Genomic context

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Location:
1q23.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160081538..160090563)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159218495..159227640)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160051328..160060353)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class M Neighboring gene Sharpr-MPRA regulatory region 2622 Neighboring gene potassium inwardly rectifying channel subfamily J member 10 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160054388-160054918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066015-160066541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066542-160067070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160067071-160067597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160070686-160071186 Neighboring gene immunoglobulin superfamily member 8 Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160079539-160080060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160081809-160082428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160082429-160083048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160083669-160084287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160085040-160085823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2

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
  • 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. De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Kochetkova TO, et al. Genes (Basel), 2023 Jan 31. PMID 36833293, Free PMC Article
  2. Analysis of linkage disequilibrium between polymorphisms in the KCNJ9 gene with type 2 diabetes mellitus in Pima Indians. Wolford JK, et al. Mol Genet Metab, 2001 May. PMID 11350189
  3. Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3). Vaughn J, et al. Biochem Biophys Res Commun, 2000 Aug 2. PMID 10913335
  4. Are GRIK3 (T928G) gene variants in schizophrenia patients different from those in their first-degree relatives? Kilic G, et al. Psychiatry Res, 2010 Jan 30. PMID 19995671
  5. Functional expression and characterization of G-protein-gated inwardly rectifying K+ channels containing GIRK3. Jelacic TM, et al. J Membr Biol, 1999 May 15. PMID 10341034

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
    Title: De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
  2. This study is the first to identify the expression of GIRK2-4 subunits in human esophageal smooth muscle cells.
    Title: Identification of GIRK2-4 subunits in human esophageal smooth muscle cells.
  3. a decisive role for the neuronal K(+) channel in regulating NCAM-dependent neurite outgrowth and attribute a physiologically meaningful role to the functional interplay of Kir3.3, NCAM, and TrkB in ontogeny
    Title: Functional consequences of the interactions among the neural cell adhesion molecule NCAM, the receptor tyrosine kinase TrkB, and the inwardly rectifying K+ channel KIR3.3.
  4. The frequencies of GRIK3 (T928G) genotype distributions in the patients with schizophrenia were similar to those of their relatives.
    Title: Are GRIK3 (T928G) gene variants in schizophrenia patients different from those in their first-degree relatives?
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association analysis of chromosome 1 migraine candidate genes.
  6. GIRK1 and GIRK2 channels, but not GIRK3 or GIRK4, may may activate signaling pathways in development of lung cancer
    Title: Expression of G-protein inwardly rectifying potassium channels (GIRKs) in lung cancer cell lines.
Submit: New GeneRIF Correction

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

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

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 IEA
Inferred from Electronic Annotation
more info
  
enables inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in parallel fiber to Purkinje cell synapse 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 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
G protein-activated inward rectifier potassium channel 3
Names
G protein-coupled inward rectifier potassium channel
inward rectifier K(+) channel Kir3.3
inwardly rectifier K+ channel KIR3.3
potassium channel, inwardly rectifying subfamily J member 9
potassium voltage-gated channel subfamily J member 9

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.

mRNA and Protein(s)

  1. NM_004983.3 → NP_004974.2  G protein-activated inward rectifier potassium channel 3

    See identical proteins and their annotated locations for NP_004974.2

    Status: REVIEWED

    Source sequence(s)
    AL121987
    Consensus CDS
    CCDS1194.1
    UniProtKB/Swiss-Prot
    Q5JW75, Q92806
    Related
    ENSP00000357067.3, ENST00000368088.4
    Conserved Domains (2) summary
    pfam01007
    Location:25 → 164
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:171 → 334
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    160081538..160090563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419850.1 → XP_047275806.1  G protein-activated inward rectifier potassium channel 3 isoform X2

    UniProtKB/Swiss-Prot
    Q5JW75, Q92806

  2. XM_047419844.1 → XP_047275800.1  G protein-activated inward rectifier potassium channel 3 isoform X1

  3. XM_047419848.1 → XP_047275804.1  G protein-activated inward rectifier potassium channel 3 isoform X1

  4. XM_047419846.1 → XP_047275802.1  G protein-activated inward rectifier potassium channel 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159218495..159227640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336480.1 → XP_054192455.1  G protein-activated inward rectifier potassium channel 3 isoform X2

  2. XM_054336479.1 → XP_054192454.1  G protein-activated inward rectifier potassium channel 3 isoform X1

  3. XM_054336478.1 → XP_054192453.1  G protein-activated inward rectifier potassium channel 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92806.2 GenPept UniProtKB/Swiss-Prot:Q92806

Gene LinkOut

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