KCNK5 potassium two pore domain channel subfamily K member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK5provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 5provided by HGNC
Primary source: HGNC:HGNC:6280
See related: Ensembl:ENSG00000164626 MIM:603493; AllianceGenome:HGNC:6280
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: TASK2; K2p5.1; KCNK5b; TASK-2
Summary: This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
Expression: Broad expression in small intestine (RPKM 18.5), kidney (RPKM 17.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (39188971..39229475, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (39013409..39053895, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (39156747..39197251, complement)

Chromosome 6 - NC_000006.12 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?

KCNK5 Regulating Potassium Efflux and Inducing Pyroptosis in Corneal Epithelial Cells Through TNFSF10-Mediated Autophagy in Dry Eye.
Title: KCNK5 Regulating Potassium Efflux and Inducing Pyroptosis in Corneal Epithelial Cells Through TNFSF10-Mediated Autophagy in Dry Eye.
Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population.
Title: Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population.
mutations in the promoter region of the TWIK-related acid-sensitive K(+) channel 2 (TASK-2) gene did not result in hypertension or primary aldosteronism (PA) during long-term follow-up in healthy participants thus they do not seem to be a factor in causing PA by themselves.
Title: Mutations of the Twik-Related Acid-Sensitive K+ Channel 2 Promoter in Human Primary Aldosteronism.
As a novel finding, our study suggests a role for KCNK5 in the regulation of platelet size and maturity. Furthermore, our findings confirm an association between the SH2B3-locus and platelet count.
Title: The SH2B3 and KCNK5 loci may be implicated in regulation of platelet count, volume, and maturity.
In human aldosterone-producing adrenocortical cancer cell lines, roxithromycin inhibited KCNJ5MUT-induced induction of CYP11B2 (encoding aldosterone synthase) expression and aldosterone production.
Title: Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.
HLA-DQB1*06:02 does not seem to be associated with hypoxic ventilatory response or hypercapnic ventilatory response; however there are point wise, uncorrected significant associations between two TASK2/KCNK5 variants (rs2815118 and rs150380866) and hypercapnic ventilatory response
Title: Analysis of Hypoxic and Hypercapnic Ventilatory Response in Healthy Volunteers.
These results therefore provide further structural and functional insights into the possible pathophysiological effects of this missense variant in TASK-2.
Title: Dominant-Negative Effect of a Missense Variant in the TASK-2 (KCNK5) K+ Channel Associated with Balkan Endemic Nephropathy.
Results show that up-regulated KCNK5 in activated human T cells does not play a volume regulatory role, due to decreased Cl- permeability suggesting that the KCNK5 upregulation might play a role in hyperpolarization of the cell membrane leading to increased Ca2+ influx and proliferation of T cells.
Title: The Volume Activated Potassium Channel KCNK5 is Up-Regulated in Activated Human T Cells, but Volume Regulation is Impaired.
Potassium channel TASK2 drives human NK-cell proliferation and cytolytic function.
Title: The two-pore domain K2 P channel TASK2 drives human NK-cell proliferation and cytolytic function.
Mutant genes (CELA1, HSPG2, and KCNK5) in Balkan endemic nephropathy patients encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis.
Title: NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. 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
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. 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

RH37409 (e-PCR)
- UniSTS:83108

RH18520 (e-PCR)
- UniSTS:3239

RH17455 (e-PCR)
- UniSTS:38340

D6S1680 (e-PCR), detects polymorphism
- UniSTS:724

KCNK5_2448 (e-PCR)
- UniSTS:280806

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables outward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium ion leak channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in potassium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of regulation of resting membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in stabilization of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: potassium channel subfamily K member 5

Names: K2P5.1 potassium channel; TWIK-related acid-sensitive K(+) channel 2; TWIK-related acid-sensitive K+ 2; TWIK-related acid-sensitive K+ channel 2; acid-sensitive potassium channel protein TASK-2; potassium channel, subfamily K, member 1 (TASK-2); potassium channel, subfamily, member 5 (KCNK5); potassium channel, two pore domain subfamily K, 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.

mRNA and Protein(s)

NM_003740.4 → NP_003731.1 potassium channel subfamily K member 5

See identical proteins and their annotated locations for NP_003731.1

Status: REVIEWED

Source sequence(s)

BC060793, BU608155

Consensus CDS

CCDS4841.1

UniProtKB/Swiss-Prot

B2RAQ6, B5TJL2, O95279, Q5VV76

Related

ENSP00000352527.3, ENST00000359534.4

Conserved Domains (1) summary

pfam07885
Location:81 → 137

Ion_trans_2; Ion 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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

39188971..39229475 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249456.2 → XP_005249513.1 potassium channel subfamily K member 5 isoform X1

Conserved Domains (1) summary

pfam07885
Location:81 → 137

Ion_trans_2; Ion channel
XM_006715235.2 → XP_006715298.1 potassium channel subfamily K member 5 isoform X2

See identical proteins and their annotated locations for XP_006715298.1

UniProtKB/TrEMBL

A0A0B6VPR3

Conserved Domains (1) summary

pfam07885
Location:1 → 61

Ion_trans_2; Ion channel

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

39013409..39053895 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356635.1 → XP_054212610.1 potassium channel subfamily K member 5 isoform X1
XM_054356636.1 → XP_054212611.1 potassium channel subfamily K member 5 isoform X2

UniProtKB/TrEMBL

A0A0B6VPR3