KCNJ14 potassium inwardly rectifying channel subfamily J member 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ14provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 14provided by HGNC
Primary source: HGNC:HGNC:6260
See related: Ensembl:ENSG00000182324 MIM:603953; AllianceGenome:HGNC:6260
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRK4; KIR2.4
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, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
Expression: Broad expression in testis (RPKM 1.5), skin (RPKM 1.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48455574..48466980)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51449735..51461143)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (48958831..48970237)

Chromosome 19 - NC_000019.10 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
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?

Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development.
Title: Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development.
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells.
Title: KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells.
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.
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.
Using patch-clamp techniques, we characterized K(IR) channels in cultured pulmonary artery smooth muscle cells and compared them to cloned Kir2.1 and Kir2.4 channels
Title: Functional expression of inward rectifier potassium channels in cultured human pulmonary smooth muscle cells: evidence for a major role of Kir2.4 subunits.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-111700 (e-PCR)
- UniSTS:168491

RH12000 (e-PCR)
- UniSTS:35431

KCNJ14_874 (e-PCR)
- UniSTS:277421

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
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
part_of voltage-gated potassium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ATP-sensitive inward rectifier potassium channel 14

Names: inward rectifier K(+) channel Kir2.4; inwardly rectifying potassium channel KIR2.4; potassium channel, inwardly rectifying subfamily J member 14; potassium voltage-gated channel subfamily J member 14

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.

mRNA and Protein(s)

NM_013348.4 → NP_037480.1 ATP-sensitive inward rectifier potassium channel 14

See identical proteins and their annotated locations for NP_037480.1

Status: VALIDATED

Source sequence(s)

AC008403, AF081466

Consensus CDS

CCDS12721.1

UniProtKB/Swiss-Prot

Q9UNX9

Related

ENSP00000341479.1, ENST00000342291.3

Conserved Domains (1) summary

pfam01007
Location:53 → 378

IRK; Inward rectifier potassium channel

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

48455574..48466980

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

51449735..51461143

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_170720.1: Suppressed sequence

Description

NM_170720.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.