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

Gene ID: 3766, updated on 2-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
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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 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

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