KCNJ5 potassium inwardly rectifying channel subfamily J member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ5provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 5provided by HGNC
Primary source: HGNC:HGNC:6266
See related: Ensembl:ENSG00000120457 MIM:600734; AllianceGenome:HGNC:6266
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: CIR; GIRK4; KATP1; LQT13; KIR3.4
Summary: This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
Expression: Biased expression in adrenal (RPKM 34.9), spleen (RPKM 8.6) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (128891356..128921163)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (128926287..128956088)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (128761251..128791058)

Chromosome 11 - NC_000011.10 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?

The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.
Title: The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.
KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.
Title: KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.
Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.
Title: Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.
Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.
Title: Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.
Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
Title: Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).
Title: A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).
KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.
Title: KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.
Insight into the Phospholipid-Binding Preferences of Kir3.4.
Title: Insight into the Phospholipid-Binding Preferences of Kir3.4.
Aldosterone-producing adenoma-harbouring KCNJ5 mutations is associated with lower prevalence of metabolic disorders and abdominal obesity.
Title: Aldosterone-producing adenoma-harbouring KCNJ5 mutations is associated with lower prevalence of metabolic disorders and abdominal obesity.
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.
Title: Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.

Submit: New GeneRIF Correction See all GeneRIFs (112)

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
Familial hyperaldosteronism type III MedGen: C3838758 OMIM: 613677 GeneReviews: Not available	Compare labs
Long QT syndrome 13 MedGen: C3150733 OMIM: 613485 GeneReviews: Long QT Syndrome Overview	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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) in peptide-treated PBMCs	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

NoName (e-PCR)
- UniSTS:482078

KCNJ5 (e-PCR)
- UniSTS:34851

RH79150 (e-PCR)
- UniSTS:67117

D8S2279 (e-PCR)
- UniSTS:473907

RH18049 (e-PCR)
- UniSTS:71479

NoName (e-PCR)
- UniSTS:480578

L18426 (e-PCR)
- UniSTS:34648

SHGC-152477 (e-PCR)
- UniSTS:177525

D11S4150 (e-PCR)
- UniSTS:76760

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein activated inward rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
contributes_to inward rectifier potassium channel activity	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 atrial cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
involved_in membrane repolarization during atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	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	NAS Non-traceable Author Statement more info	PubMed
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle cell membrane repolarization	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
part_of I(KACh) inward rectifier potassium channel complex	ISO Inferred from Sequence Orthology 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
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: G protein-activated inward rectifier potassium channel 4

Names: IRK-4; cardiac ATP-sensitive potassium channel; heart KATP channel; inward rectifier K+ channel KIR3.4; potassium channel, inwardly rectifying subfamily J, member 5; potassium voltage-gated channel subfamily J member 5

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_023406.2 RefSeqGene

Range

5001..31652

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_333

mRNA and Protein(s)

NM_000890.5 → NP_000881.3 G protein-activated inward rectifier potassium channel 4

See identical proteins and their annotated locations for NP_000881.3

Status: REVIEWED

Source sequence(s)

AK312837, AP000920

Consensus CDS

CCDS8479.1

UniProtKB/Swiss-Prot

B2R744, P48544, Q6DK13, Q6DK14, Q92807

UniProtKB/TrEMBL

A0A5J6E2W8, H7CGH0

Related

ENSP00000433295.1, ENST00000529694.6

Conserved Domains (2) summary

pfam01007
Location:54 → 193

IRK; Inward rectifier potassium channel

pfam17655
Location:200 → 371

IRK_C; Inward rectifier potassium channel C-terminal domain
NM_001354169.2 → NP_001341098.1 G protein-activated inward rectifier potassium channel 4

Status: REVIEWED

Source sequence(s)

AP000920, BC069571, BX647543

Consensus CDS

CCDS8479.1

UniProtKB/Swiss-Prot

B2R744, P48544, Q6DK13, Q6DK14, Q92807

UniProtKB/TrEMBL

A0A5J6E2W8, H7CGH0

Related

ENSP00000339960.4, ENST00000338350.4

Conserved Domains (2) summary

pfam01007
Location:54 → 193

IRK; Inward rectifier potassium channel

pfam17655
Location:200 → 371

IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

128891356..128921163

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542810.4 → XP_011541112.1 G protein-activated inward rectifier potassium channel 4 isoform X1

See identical proteins and their annotated locations for XP_011541112.1

UniProtKB/Swiss-Prot

B2R744, P48544, Q6DK13, Q6DK14, Q92807

UniProtKB/TrEMBL

A0A5J6E2W8, H7CGH0

Conserved Domains (2) summary

pfam01007
Location:54 → 193

IRK; Inward rectifier potassium channel

pfam17655
Location:200 → 371

IRK_C; Inward rectifier potassium channel C-terminal domain