KCNJ2 potassium inwardly rectifying channel subfamily J member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ2provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 2provided by HGNC
Primary source: HGNC:HGNC:6263
See related: Ensembl:ENSG00000123700 MIM:600681; AllianceGenome:HGNC:6263
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: IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1
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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 3.4), heart (RPKM 3.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (70169532..70180044)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (71047853..71058363)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (68165673..68176185)

Chromosome 17 - NC_000017.11 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 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?

The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.
Title: The network of cardiac K(IR)2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.
Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
Title: Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.
Title: The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.
Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca [2+] overload and the TGF-beta1/Smad signaling pathway.
Title: Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca (2+) overload and the TGF-β1/Smad signaling pathway.
Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes.
Title: Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes.
Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.
Title: Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.
Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
Title: Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.
Kir2.1-mediated membrane potential promotes nutrient acquisition and inflammation through regulation of nutrient transporters.
Title: Kir2.1-mediated membrane potential promotes nutrient acquisition and inflammation through regulation of nutrient transporters.
alpha1 -Adrenoceptors activate the NLRP3 inflammasome through downregulation of Kir2.1 in cardiac inflammation.
Title: α(1) -Adrenoceptors activate the NLRP3 inflammasome through downregulation of Kir2.1 in cardiac inflammation.
Elevated Kir2.1/nuclear N2ICD defines a highly malignant subtype of non-WNT/SHH medulloblastomas.
Title: Elevated Kir2.1/nuclear N2ICD defines a highly malignant subtype of non-WNT/SHH medulloblastomas.

Submit: New GeneRIF Correction See all GeneRIFs (140)

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
Andersen Tawil syndrome MedGen: C1563715 OMIM: 170390 GeneReviews: Long QT Syndrome Overview, Andersen-Tawil Syndrome	Compare labs
Atrial fibrillation, familial, 9 MedGen: C3151431 OMIM: 613980 GeneReviews: Not available	Compare labs
Short QT syndrome type 3 MedGen: C1865018 OMIM: 609622 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies six new loci associated with forced vital capacity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH48445 (e-PCR)
- UniSTS:48390

KCNJ2_1577 (e-PCR)
- UniSTS:277423

KCNJ2_v544 (e-PCR)
- UniSTS:277423

NoName (e-PCR)
- UniSTS:482479

KCNJ2 (e-PCR)
- UniSTS:480220

RH98566 (e-PCR)
- UniSTS:83965

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle cell action potential involved in contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in intracellular potassium ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in magnesium ion transport	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization during cardiac muscle cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in membrane repolarization during action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during cardiac muscle cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of potassium ion transmembrane transport	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 import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of resting membrane potential	TAS Traceable Author Statement more info	PubMed
involved_in regulation of skeletal muscle contraction via regulation of action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in relaxation of cardiac muscle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in relaxation of skeletal muscle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	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 postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inward rectifier potassium channel 2

Names: IRK-1; cardiac inward rectifier potassium channel; hIRK1; inward rectifier K+ channel KIR2.1; potassium channel, inwardly rectifying subfamily J, member 2; potassium voltage-gated channel subfamily J member 2

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_008798.1 RefSeqGene

Range

5001..15510

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_328

mRNA and Protein(s)

NM_000891.3 → NP_000882.1 inward rectifier potassium channel 2

See identical proteins and their annotated locations for NP_000882.1

Status: REVIEWED

Source sequence(s)

AC005242, AF153820

Consensus CDS

CCDS11688.1

UniProtKB/Swiss-Prot

O15110, P48049, P63252

UniProtKB/TrEMBL

B2RA82

Related

ENSP00000243457.2, ENST00000243457.4

Conserved Domains (3) summary

pfam01007
Location:48 → 186

IRK; Inward rectifier potassium channel

pfam08466
Location:1 → 47

IRK_N; Inward rectifier potassium channel N-terminal

pfam17655
Location:193 → 366

IRK_C; Inward rectifier potassium channel C-terminal domain