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

Summary

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

Location:: 1q23.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160037467..160070160, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159174545..159207239, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160007257..160039950, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
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.
Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.
Title: Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.
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?
Association of KCNJ10 variants and the susceptibility to clinical epilepsy.
Title: Association of KCNJ10 variants and the susceptibility to clinical epilepsy.
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.
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.
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.
CHANGES OF AQUEOUS HUMOR MULLER CELLS' BIOMARKERS IN HUMAN PATIENTS AFFECTED BY DIABETIC MACULAR EDEMA AFTER SUBTHRESHOLD MICROPULSE LASER TREATMENT.
Title: CHANGES OF AQUEOUS HUMOR MÜLLER CELLS' BIOMARKERS IN HUMAN PATIENTS AFFECTED BY DIABETIC MACULAR EDEMA AFTER SUBTHRESHOLD MICROPULSE LASER TREATMENT.

Submit: New GeneRIF Correction See all GeneRIFs (63)

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
Autosomal recessive nonsyndromic hearing loss 4 MedGen: C3538946 OMIM: 600791 GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct	Compare labs
EAST syndrome MedGen: C2748572 OMIM: 612780 GeneReviews: Not available	Compare labs
Pendred syndrome MedGen: C0271829 OMIM: 274600 GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct	Compare labs

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

RH67793 (e-PCR)
- UniSTS:80179

D1S1167 (e-PCR), detects polymorphism
- UniSTS:149074

RH47009 (e-PCR)
- UniSTS:24982

G31026 (e-PCR)
- UniSTS:23709

NIB355 (e-PCR)
- UniSTS:14805

SHGC-89275 (e-PCR)
- UniSTS:104921

KCNJ10_V175 (e-PCR)
- UniSTS:280802

KCNJ10_866.2 (e-PCR)
- UniSTS:280802

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 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
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	IEA Inferred from Electronic Annotation more info
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

NG_016411.1 RefSeqGene

Range

5012..37705

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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