U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 8645, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375046 Neighboring gene glucagon like peptide 1 receptor Neighboring gene VISTA enhancer hs2612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24488 Neighboring gene ankyrin repeat domain 18E, pseudogene Neighboring gene SAYSVFN motif domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:39099268-39099866 Neighboring gene MPRA-validated peak5798 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:39170808-39172007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39176709-39177666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39177695-39178235 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91581 Neighboring gene Sharpr-MPRA regulatory region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39197829-39198556 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231061-39231786 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231787-39232512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39240749-39241250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39241251-39241750 Neighboring gene NANOG hESC enhancer GRCh37_chr6:39259242-39259743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39264681-39265194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24489 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39271654-39271813 Neighboring gene uncharacterized LOC105375047 Neighboring gene potassium two pore domain channel subfamily K member 17 Neighboring gene potassium two pore domain channel subfamily K member 16

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Mutations of the Twik-Related Acid-Sensitive K+ Channel 2 Promoter in Human Primary Aldosteronism. Lenzini L, et al. Endocrinology, 2018 Mar 1. PMID 29293917
  2. Dominant-Negative Effect of a Missense Variant in the TASK-2 (KCNK5) K+ Channel Associated with Balkan Endemic Nephropathy. Reed AP, et al. PLoS One, 2016. PMID 27228168, Free PMC Article
  3. The Volume Activated Potassium Channel KCNK5 is Up-Regulated in Activated Human T Cells, but Volume Regulation is Impaired. Kirkegaard SS, et al. Cell Physiol Biochem, 2016. PMID 26909737
  4. The two-pore domain K2 P channel TASK2 drives human NK-cell proliferation and cytolytic function. Schulte-Mecklenbeck A, et al. Eur J Immunol, 2015 Sep. PMID 26140335
  5. Lower expression of the TWIK-related acid-sensitive K+ channel 2 (TASK-2) gene is a hallmark of aldosterone-producing adenoma causing human primary aldosteronism. Lenzini L, et al. J Clin Endocrinol Metab, 2014 Apr. PMID 24285684

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

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
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ11035

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    39188971..39229475 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    39013409..39053895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054356636.1 → XP_054212611.1  potassium channel subfamily K member 5 isoform X2

    UniProtKB/TrEMBL
    A0A0B6VPR3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95279.1 GenPept UniProtKB/Swiss-Prot:O95279

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous