KCNJ4 potassium inwardly rectifying channel subfamily J member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ4provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 4provided by HGNC
Primary source: HGNC:HGNC:6265
See related: Ensembl:ENSG00000168135 MIM:600504; AllianceGenome:HGNC:6265
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: HIR; HRK1; IRK3; HIRK2; IRK-3; Kir2.3
Summary: Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 14.9) and heart (RPKM 6.3) See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38426327..38455199, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38890595..38919463, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38822332..38851205, complement)

Chromosome 22 - NC_000022.11 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: 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?

results shed some light on the contribution of KCNJ4 functioning as a significant player in LADC, implying that KCNJ4 might be a valuable prognostic biomarker and a potential therapeutic target for LADC treatment
Title: Overexpression of KCNJ4 correlates with cancer progression and unfavorable prognosis in lung adenocarcinoma.
Increased excitability and decreased dendritic arborization are associated with downregulation of inward rectifier potassium channels (Kir2.1/2.3).
Title: Striatal D2 receptors regulate dendritic morphology of medium spiny neurons via Kir2 channels.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
TIP-1 may act as an important regulator for the endocytic pathway of Kir2.3.
Title: Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1.
The data suggest that Kir2.3 plays a potentially important role in I(K1) currents in neonatal rat cardiomyocytes.
Title: Kir2.3 knock-down decreases IK1 current in neonatal rat cardiomyocytes.
possibility of intramolecular interactions of the residue Kir2.3(H117) with conserved cysteines in close proximity to the selectivity filter
Title: Novel insights into the structural basis of pH-sensitivity in inward rectifier K+ channels Kir2.3.
Kir2.3 is internalized by an AP-2 clathrin-dependent mechanism.
Title: AP-2-dependent internalization of potassium channel Kir2.3 is driven by a novel di-hydrophobic signal.
In conclusion, the data are consistent with the universal mechanism of rectification in Kir2 channels, but also point to significant, and physiologically important, quantitative differences between Kir2 isoforms.
Title: Differential polyamine sensitivity in inwardly rectifying Kir2 potassium channels.
Kir2.2 and Kir2.1 are primary determinants of endogenous K(+) conductance in HAECs under resting conditions and that Kir2.2 provides the dominant conductance in these cells.
Title: Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2.
Results describe the regulation of inwardly rectifying potassium current and its main molecular correlates, Kir2.1, Kir2.2 and Kir2.3 channels, by endothelin-1 in human atrial cardiomyocytes.
Title: Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 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

RH70543 (e-PCR)
- UniSTS:30761

GDB:633469 (e-PCR)
- UniSTS:158511

GDB:633533 (e-PCR)
- UniSTS:158512

NoName (e-PCR)
- UniSTS:488085

RH78616 (e-PCR)
- UniSTS:88271

KCNJ4_1786 (e-PCR)
- UniSTS:280804

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain 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 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 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 basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	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	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: inward rectifier potassium channel 4

Names: hippocampal inward rectifier potassium channel; inward rectifier K(+) channel Kir2.3; potassium channel, inwardly rectifying subfamily J, member 4; potassium voltage-gated channel subfamily J member 4

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_050625.2 RefSeqGene

Range

5000..33872

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004981.2 → NP_004972.1 inward rectifier potassium channel 4

See identical proteins and their annotated locations for NP_004972.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

U07364

Consensus CDS

CCDS13971.1

UniProtKB/Swiss-Prot

P48050, Q14D44

UniProtKB/TrEMBL

Q58F07

Conserved Domains (2) summary

pfam01007
Location:22 → 178

IRK; Inward rectifier potassium channel

pfam17655
Location:185 → 357

IRK_C; Inward rectifier potassium channel C-terminal domain
NM_152868.3 → NP_690607.1 inward rectifier potassium channel 4

See identical proteins and their annotated locations for NP_690607.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

Z97056

Consensus CDS

CCDS13971.1

UniProtKB/Swiss-Prot

P48050, Q14D44

UniProtKB/TrEMBL

Q58F07

Related

ENSP00000306497.3, ENST00000303592.3

Conserved Domains (2) summary

pfam01007
Location:22 → 178

IRK; Inward rectifier potassium channel

pfam17655
Location:185 → 357

IRK_C; Inward rectifier potassium channel C-terminal domain