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    KCNJ10 potassium inwardly rectifying channel subfamily J member 10 [ Homo sapiens (human) ]

    Gene ID: 3766, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KCNJ10provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 10provided by HGNC
    Primary source
    HGNC:HGNC:6256
    See related
    Ensembl:ENSG00000177807 MIM:602208; AllianceGenome:HGNC:6256
    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
    KIR1.2; KIR4.1; SESAME; BIRK-10; KCNJ13-PEN
    Summary
    This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 52.7), kidney (RPKM 14.4) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ10 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160037467..160070160, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159174545..159207239, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160007257..160039950, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904436 Neighboring gene ribosomal protein L27a pseudogene 2 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class M Neighboring gene Sharpr-MPRA regulatory region 2622 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 potassium inwardly rectifying channel subfamily J member 9 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 immunoglobulin superfamily member 8

    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. Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. Tanemoto M, et al. FEBS Lett, 2014 Mar 18. PMID 24561201
    2. Multiple Sclerosis and Antibodies against KIR4.1. Pröbstel AK, et al. N Engl J Med, 2016 Apr 14. PMID 27074084
    3. Evaluation of KIR4.1 as an Immune Target in Multiple Sclerosis. Chastre A, et al. N Engl J Med, 2016 Apr 14. PMID 27074083, Free PMC Article
    4. Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies. Guo Y, et al. PLoS One, 2015. PMID 25874548, Free PMC Article
    5. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Scholl UI, et al. Proc Natl Acad Sci U S A, 2009 Apr 7. PMID 19289823, Free PMC Article

    See all (96) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
      Title: Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
    2. [Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].
      Title: [Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].
    3. Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
      Title: Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
    4. Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.
      Title: Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.
    5. Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.
      Title: Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.
    6. Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?
      Title: Increased potassium excretion in children with monosymptomatic nocturnal enuresis: could it be related to Kir 4.1- KCNJ10 gene polymorphism?
    7. Association of KCNJ10 variants and the susceptibility to clinical epilepsy.
      Title: Association of KCNJ10 variants and the susceptibility to clinical epilepsy.
    8. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
      Title: Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
    9. Correlation between Kir4.1 expression and barium-sensitive currents in rat and human glioma cell lines.
      Title: Correlation between Kir4.1 expression and barium-sensitive currents in rat and human glioma cell lines.
    10. Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
      Title: Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
    Submit: New GeneRIF Correction See all GeneRIFs (64)

    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)

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-activated inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    Process Evidence Code Pubs
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamate reuptake IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of resting membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in astrocyte projection ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of monoatomic ion channel complex 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 presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ATP-sensitive inward rectifier potassium channel 10
    Names
    ATP-dependent inwardly rectifying potassium channel Kir4.1
    glial ATP-dependent inwardly rectifying potassium channel KIR4.1
    inward rectifier K(+) channel Kir1.2
    inward rectifier K+ channel KIR1.2
    potassium channel, inwardly rectifying subfamily J member 10
    potassium voltage-gated channel subfamily J member 10

    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_016411.1 RefSeqGene

      Range
      5012..37705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002241.5 → NP_002232.2  ATP-sensitive inward rectifier potassium channel 10

      See identical proteins and their annotated locations for NP_002232.2

      Status: REVIEWED

      Source sequence(s)
      AL513302, BC131627, BM675618, DA958759
      Consensus CDS
      CCDS1193.1
      UniProtKB/Swiss-Prot
      A3KME7, P78508, Q5VUT9, Q8N4I7, Q92808
      UniProtKB/TrEMBL
      B2R604
      Related
      ENSP00000495557.1, ENST00000644903.1
      Conserved Domains (2) summary
      pfam01007
      Location:31 → 172
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:179 → 354
      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
      160037467..160070160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159174545..159207239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78508.1 GenPept UniProtKB/Swiss-Prot:P78508

    Gene LinkOut

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

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