KCNK18 potassium two pore domain channel subfamily K member 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK18provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 18provided by HGNC
Primary source: HGNC:HGNC:19439
See related: Ensembl:ENSG00000186795 MIM:613655; AllianceGenome:HGNC:19439
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: TRIK; MGR13; TRESK; TRESK2; K2p18.1; TRESK-2
Summary: Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (117197489..117210299)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (118091991..118104789)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (118957000..118969810)

Chromosome 10 - NC_000010.11 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?

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.
Title: Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.
TRESK background potassium channel modifies the TRPV1-mediated nociceptor excitability in sensory neurons.
Title: TRESK background potassium channel modifies the TRPV1-mediated nociceptor excitability in sensory neurons.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Title: KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Altered functional properties of a missense variant in the TRESK K(+) channel (KCNK18) associated with migraine and intellectual disability.
Title: Altered functional properties of a missense variant in the TRESK K(+) channel (KCNK18) associated with migraine and intellectual disability.
The Background K(+) Channel TRESK in Sensory Physiology and Pain.
Title: The Background K(+) Channel TRESK in Sensory Physiology and Pain.
Nociceptors from migraine patients with the F139WfsX2 mutation show loss of functional TRESK at the membrane, with a corresponding significant increase in neuronal excitability.
Title: A causal role for TRESK loss of function in migraine mechanisms.
Results provide evidence that the activation of novel-type PKC results in the slow (indirect) dephosphorylation of TRESK at the regulatory residue S264 in a calcineurin-independent manner.
Title: TRESK (K2P18.1) Background Potassium Channel Is Activated by Novel-Type Protein Kinase C via Dephosphorylation.
both human and rat TRESK contain potential anionic phospholipid binding sites (apbs) in the large cytoplasmic loop, but only the human channel is able to bind to multilamellar vesicles (MLVs), enriched with anionic phospholipids, suggesting an electrostatically mediated interaction.
Title: Anionic Phospholipids Bind to and Modulate the Activity of Human TRESK Background K(+) Channel.
The presence of SCN1A mutations and absence of mutations in ATP1A2 or CACNA1A suggest that the Polish patients represent FHM type 3.
Title: Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.
This study reveals new pharmacological modulators of K2P18.1 activity useful in dissecting native K2P18.1 function
Title: Identification of novel small molecule modulators of K2P18.1 two-pore potassium channel.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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
Migraine, with or without aura, susceptibility to, 13 MedGen: C4225479 OMIM: 613656 GeneReviews: Not available	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-172075 (e-PCR)
- UniSTS:182334

D10S2446 (e-PCR)
- UniSTS:474442

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-activated potassium channel activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	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 ion leak channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to pH	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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
involved_in regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: potassium channel subfamily K member 18

Names: TWIK-related individual K+ channel; TWIK-related individual potassium channel; TWIK-related spinal cord K+ channel; TWIK-related spinal cord potassium channel; potassium channel, subfamily K, member 18; potassium channel, two pore domain subfamily K, member 18

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.