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

    Gene ID: 3765, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See KCNJ9 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160081538..160090563)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159218495..159227640)
    RS_2024_09 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 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. Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3). Vaughn J, et al. Biochem Biophys Res Commun, 2000 Aug 2. PMID 10913335
    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. 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
    4. Assignment of human G-protein-coupled inward rectifier K+ channel homolog GIRK3 gene to chromosome 1q21-q23. Lesage F, et al. Genomics, 1995 Oct 10. PMID 8575783
    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)

    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_2024_08

    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

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

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