KCNK3 potassium two pore domain channel subfamily K member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK3provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 3provided by HGNC
Primary source: HGNC:HGNC:6278
See related: Ensembl:ENSG00000171303 MIM:603220; AllianceGenome:HGNC:6278
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: OAT1; PPH4; TASK; TASK1; TBAK1; K2p3.1; TASK-1
Summary: This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
Expression: Biased expression in adrenal (RPKM 48.3), placenta (RPKM 12.8) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26692722..26733420)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26731837..26774979)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (26915590..26956288)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence.
Title: Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence.
Genome-Wide Methylation Analysis Reveals a KCNK3-Prominent Causal Cascade on Hypertension.
Title: Genome-Wide Methylation Analysis Reveals a KCNK3-Prominent Causal Cascade on Hypertension.
Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.
Title: Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.
Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.
Title: Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Title: Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.
Title: MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.
Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
Title: Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
TASK-1 regulates mitochondrial function under hypoxia.
Title: TASK-1 regulates mitochondrial function under hypoxia.
Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
Title: Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.
Title: KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.

Submit: New GeneRIF Correction See all GeneRIFs (73)

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
Pulmonary hypertension, primary, 4 MedGen: C3809198 OMIM: 615344 GeneReviews: Heritable Pulmonary Arterial Hypertension 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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu and TASK-1 decrease HIV-1 transcription by suppressing unintegrated HIV-1 DNA, which is inhibited by overexpression of RelA	PubMed
	vpu	HIV-1 Vpu interacts with TASK-1, a mammalian background K(+) channel, which in turn suppresses TASK-1 current in HEK-293 cells	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

Kcnk3 (e-PCR), detects polymorphism
- UniSTS:547595

Kcnk3 (e-PCR), detects polymorphism
- UniSTS:547596

NoName (e-PCR)
- UniSTS:486676

PMC16288P2 (e-PCR)
- UniSTS:271474

DXS8011 (e-PCR)
- UniSTS:37245

KCNK3_888 (e-PCR)
- UniSTS:277428

RH102127 (e-PCR)
- UniSTS:96461

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables S100 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables open rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
enables outward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables outward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	TAS Traceable Author Statement more info	PubMed
enables potassium ion leak channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium ion leak channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytosolic calcium ion concentration	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	TAS Traceable Author Statement more info	PubMed
involved_in regulation of action potential firing rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of resting membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: potassium channel subfamily K member 3

Names: TWIK-related acid-sensitive K(+) channel 1; TWIK-related acid-sensitive K+ 1; TWIK-related acid-sensitive K+ channel; acid-sensitive potassium channel protein TASK; acid-sensitive potassium channel protein TASK-1; cardiac potassium channel; potassium channel, two pore domain subfamily K, member 3; potassium inwardly-rectifying channel, subfamily K, member 3; two P domain potassium channel; two pore K(+) channel KT3.1; two pore potassium channel KT3.1

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_033884.1 RefSeqGene

Range

5001..43486

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002246.3 → NP_002237.1 potassium channel subfamily K member 3

See identical proteins and their annotated locations for NP_002237.1

Status: REVIEWED

Source sequence(s)

AC015977, AF065163

Consensus CDS

CCDS1727.1

UniProtKB/Swiss-Prot

O14649, Q53SU2

Related

ENSP00000306275.3, ENST00000302909.4

Conserved Domains (1) summary

pfam07885
Location:77 → 132

Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

26692722..26733420

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005264293.3 → XP_005264350.1 potassium channel subfamily K member 3 isoform X1

See identical proteins and their annotated locations for XP_005264350.1

UniProtKB/TrEMBL

B9EIJ4

Conserved Domains (2) summary

pfam07885
Location:57 → 137

Ion_trans_2; Ion channel

cl01544
Location:3 → 60

Bestrophin; Bestrophin, RFP-TM, chloride channel