KCNJ6 potassium inwardly rectifying channel subfamily J member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ6provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 6provided by HGNC
Primary source: HGNC:HGNC:6267
See related: Ensembl:ENSG00000157542 MIM:600877; AllianceGenome:HGNC:6267
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: BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2
Summary: This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
Expression: Biased expression in brain (RPKM 1.1), stomach (RPKM 0.3) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (37607373..37916457, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (35989771..36299971, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (38979675..39288760, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oxidation Driven Reversal of PIP2-dependent Gating in GIRK2 Channels.
Title: Oxidation Driven Reversal of PIP(2)-dependent Gating in GIRK2 Channels.
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.
Title: Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.
Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life.
Title: Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life.
KCNJ6 variants modulate reward-related brain processes and impact executive functions in attention-deficit/hyperactivity disorder.
Title: KCNJ6 variants modulate reward-related brain processes and impact executive functions in attention-deficit/hyperactivity disorder.
These findings suggest that KCNJ6 may contribute to variation of blood pressure responses to dietary sodium interventions.
Title: Association of Kir genes with blood pressure responses to dietary sodium intervention: the GenSalt study.
Gi/o-coupled muscarinic receptors co-localize with GIRK channel for efficient channel activation
Title: Gi/o-coupled muscarinic receptors co-localize with GIRK channel for efficient channel activation.
The KCNJ6 -1250A and COMT Val alleles are predisposing preterm newborns to diminished opioid-induced pain relief.
Title: Genetic Predisposition to Poor Opioid Response in Preterm Infants: Impact of KCNJ6 and COMT Polymorphisms on Pain Relief After Endotracheal Intubation.
The major findings of the current study are 1) an additive genotypic effect of the KCNJ6 SNP on the ERO theta power phenotype during reward processing, increasing significantly across genotypes.
Title: A KCNJ6 gene polymorphism modulates theta oscillations during reward processing.
Three of the four KCNJ6 SNPs studied here were found to be significantly associated with the same theta event related oscillations in adults.
Title: Genetic correlates of the development of theta event related oscillations in adolescents and young adults.
The findings of this study suggest that variations in KCNJ6 genes are associated with both mild and severe persistent breast pain after breast cancer surgery.
Title: Variations in potassium channel genes are associated with distinct trajectories of persistent breast pain after breast cancer surgery.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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
Keppen-Lubinsky syndrome MedGen: C3279800 OMIM: 614098 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-12-10) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2024-12-10) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

D21S337 (e-PCR)
- UniSTS:147721

D21S1238 (e-PCR), detects polymorphism
- UniSTS:71440

G29044 (e-PCR)
- UniSTS:49691

STS_CEB268 (e-PCR)
- UniSTS:255262

RH119817 (e-PCR)
- UniSTS:138277

UniSTS:143667 (e-PCR)
- UniSTS:143667

Kcnj6 (e-PCR), detects polymorphism
- UniSTS:143667

SHGC-10474 (e-PCR)
- UniSTS:69691

G29043 (e-PCR)
- UniSTS:70208

RH78100 (e-PCR)
- UniSTS:47681

G34693 (e-PCR)
- UniSTS:45394

SHGC-10469 (e-PCR)
- UniSTS:26452

SHGC-8849 (e-PCR)
- UniSTS:78421

G34635 (e-PCR)
- UniSTS:26453

G29045 (e-PCR)
- UniSTS:52309

G02353 (e-PCR)
- UniSTS:46937

SHGC-51806 (e-PCR)
- UniSTS:9571

D21S1440 (e-PCR), detects polymorphism
- UniSTS:45177

D21S233 (e-PCR)
- UniSTS:147076

SHGC-51857 (e-PCR)
- UniSTS:65675

G20645 (e-PCR)
- UniSTS:46227

A006A13 (e-PCR)
- UniSTS:46228

SHGC-52138 (e-PCR)
- UniSTS:46486

RH92677 (e-PCR)
- UniSTS:91287

SHGC-170067 (e-PCR)
- UniSTS:173722

NoName (e-PCR)
- UniSTS:485798

KCNJ6_880 (e-PCR)
- UniSTS:277425

KCNJ6_V181 (e-PCR)
- UniSTS:277425

SHGC-52126 (e-PCR)
- UniSTS:52673

SHGC-35670 (e-PCR)
- UniSTS:31693

SHGC-10477 (e-PCR)
- UniSTS:46544

D21S1425 (e-PCR)
- UniSTS:62934

SHGC-10462 (e-PCR)
- UniSTS:25054

RH18020 (e-PCR)
- UniSTS:69858

D21S1439 (e-PCR)
- UniSTS:40189

SHGC-87628 (e-PCR)
- UniSTS:43773

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 inward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
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 potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	HDA more info	PubMed
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: G protein-activated inward rectifier potassium channel 2

Names: inward rectifier K(+) channel Kir3.2; inward rectifier potassium channel KIR3.2; potassium channel, inwardly rectifying subfamily J, member 6; potassium voltage-gated channel subfamily J member 6

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.