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Aliases for KCNK18 Gene

Aliases for KCNK18 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 18 2 3 5
  • Potassium Channel, Two Pore Domain Subfamily K, Member 18 2 3
  • TWIK-Related Spinal Cord Potassium Channel 3 4
  • Potassium Channel, Subfamily K, Member 18 2 3
  • TWIK-Related Individual Potassium Channel 3 4
  • TRESK 3 4
  • TRIK 3 4
  • Potassium Channel Subfamily K Member 18 3
  • TWIK Related Spinal Cord K+ Channel 2
  • TWIK-Related Spinal Cord K+ Channel 3
  • TWIK-Related Individual K+ Channel 3
  • K2p18.1 3
  • TRESK-2 3
  • TRESK2 3
  • MGR13 3

External Ids for KCNK18 Gene

Previous GeneCards Identifiers for KCNK18 Gene

  • GC10P118947
  • GC10P112584

Summaries for KCNK18 Gene

Entrez Gene Summary for KCNK18 Gene

  • 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]

GeneCards Summary for KCNK18 Gene

KCNK18 (Potassium Two Pore Domain Channel Subfamily K Member 18) is a Protein Coding gene. Diseases associated with KCNK18 include Migraine, With Or Without Aura 13 and Migraine With Or Without Aura, Susceptibility 13. Among its related pathways are Transmission across Chemical Synapses and Cardiac conduction. GO annotations related to this gene include potassium channel activity and potassium ion leak channel activity.

UniProtKB/Swiss-Prot for KCNK18 Gene

  • Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring unsaturated free fatty acids. Channel activity is also enhanced by volatile anesthetics, such as isoflurane. Appears to be the primary target of hydroxy-alpha-sanshool, an ingredient of Schezuan pepper. May be involved in the somatosensory function with special respect to pain sensation (By similarity).

Tocris Summary for KCNK18 Gene

Gene Wiki entry for KCNK18 Gene

Additional gene information for KCNK18 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNK18 Gene

Genomics for KCNK18 Gene

Regulatory Elements for KCNK18 Gene

Enhancers for KCNK18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H117174 1.2 Ensembl ENCODE 11.8 -22.0 -22039 1.7 ELF3 RB1 NFIB ZFP64 SIN3A BATF RAD21 RFX5 EGR1 ZSCAN5C VAX1 RPL12P26 KCNK18 MIR3663HG RAB11FIP2 SLC18A2 LOC105378500 GC10M117197
GH10H117168 0.9 ENCODE 10.8 -29.2 -29205 0.2 KLF17 SIN3A ZNF2 RAD21 GLIS2 ZNF366 ZNF143 KLF7 ZNF391 SMARCA5 VAX1 RPL12P26 KCNK18 MIR3663 MIR3663HG
GH10H117165 0.8 ENCODE 10.8 -31.5 -31545 0.2 CTCF SUZ12 ZNF2 RAD21 ZNF121 GLIS2 PATZ1 SMC3 ZNF600 ZNF391 VAX1 KCNK18 RPL12P26 MIR3663
GH10H117166 0.5 FANTOM5 10.8 -30.9 -30923 0.1 PRDM10 EZH2 VAX1 KCNK18 RPL12P26 MIR3663
GH10H117167 0.4 FANTOM5 10.8 -30.3 -30301 0.1 EZH2 VAX1 RPL12P26 KCNK18 C10orf82 MIR3663
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNK18 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KCNK18 Gene

Genomic Locations for KCNK18 Gene
chr10:117,197,489-117,210,299
(GRCh38/hg38)
Size:
12,811 bases
Orientation:
Plus strand
chr10:118,957,000-118,969,810
(GRCh37/hg19)

Genomic View for KCNK18 Gene

Genes around KCNK18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK18 Gene

Proteins for KCNK18 Gene

  • Protein details for KCNK18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z418-KCNKI_HUMAN
    Recommended name:
    Potassium channel subfamily K member 18
    Protein Accession:
    Q7Z418
    Secondary Accessions:
    • Q5SQQ8

    Protein attributes for KCNK18 Gene

    Size:
    384 amino acids
    Molecular mass:
    43671 Da
    Quaternary structure:
    • Interacts with calcineurin. Interacts with YWHAH, in a phosphorylation-dependent manner.
    Miscellaneous:
    • In contrast to its mouse ortholog, it is not regulated by extracellular protons.

neXtProt entry for KCNK18 Gene

Post-translational modifications for KCNK18 Gene

  • N-glycosylated.
  • Phosphorylation of Ser-252 is required for the binding of 14-3-3eta/YWHAH. Calcineurin-mediated dephosphorylation of Ser-264 enhances channel activity (By similarity).
  • Glycosylation at isoforms=70
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK18 Gene

Domains & Families for KCNK18 Gene

Gene Families for KCNK18 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNK18 Gene

Suggested Antigen Peptide Sequences for KCNK18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z418

UniProtKB/Swiss-Prot:

KCNKI_HUMAN :
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
Domain:
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
genes like me logo Genes that share domains with KCNK18: view

Function for KCNK18 Gene

Molecular function for KCNK18 Gene

UniProtKB/Swiss-Prot Function:
Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring unsaturated free fatty acids. Channel activity is also enhanced by volatile anesthetics, such as isoflurane. Appears to be the primary target of hydroxy-alpha-sanshool, an ingredient of Schezuan pepper. May be involved in the somatosensory function with special respect to pain sensation (By similarity).

Gene Ontology (GO) - Molecular Function for KCNK18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity TAS --
GO:0015269 calcium-activated potassium channel activity IEA --
GO:0015271 outward rectifier potassium channel activity IDA 12754259
GO:0022841 potassium ion leak channel activity IBA --
genes like me logo Genes that share ontologies with KCNK18: view
genes like me logo Genes that share phenotypes with KCNK18: view

Animal Models for KCNK18 Gene

MGI Knock Outs for KCNK18:

Animal Model Products

miRNA for KCNK18 Gene

miRTarBase miRNAs that target KCNK18

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNK18 Gene

Localization for KCNK18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK18 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNK18 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for KCNK18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 12754259
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNK18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNK18 Gene

Pathways & Interactions for KCNK18 Gene

genes like me logo Genes that share pathways with KCNK18: view

Pathways by source for KCNK18 Gene

Interacting Proteins for KCNK18 Gene

Gene Ontology (GO) - Biological Process for KCNK18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,IDA 20006580
GO:0030322 stabilization of membrane potential IBA --
GO:0071435 potassium ion export IDA 12754259
genes like me logo Genes that share ontologies with KCNK18: view

No data available for SIGNOR curated interactions for KCNK18 Gene

Drugs & Compounds for KCNK18 Gene

(6) Drugs for KCNK18 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
arachidonic acid Experimental Nutra Activator 32

(2) Additional Compounds for KCNK18 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for KCNK18 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker; neuroprotective 7647-17-8
YS-035 hydrochloride Inhibits K+ outward/pacemaker current 89805-39-0
genes like me logo Genes that share compounds with KCNK18: view

Transcripts for KCNK18 Gene

mRNA/cDNA for KCNK18 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK18 Gene

No ASD Table

Relevant External Links for KCNK18 Gene

GeneLoc Exon Structure for
KCNK18
ECgene alternative splicing isoforms for
KCNK18

Expression for KCNK18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNK18 Gene

mRNA differential expression in normal tissues according to GTEx for KCNK18 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.4), Brain - Caudate (basal ganglia) (x8.7), and Brain - Hypothalamus (x8.5).

NURSA nuclear receptor signaling pathways regulating expression of KCNK18 Gene:

KCNK18

SOURCE GeneReport for Unigene cluster for KCNK18 Gene:

Hs.449650

mRNA Expression by UniProt/SwissProt for KCNK18 Gene:

Q7Z418-KCNKI_HUMAN
Tissue specificity: Expressed specifically in dorsal root ganglion and trigeminal ganglion neurons. Detected at low levels in spinal cord.

Evidence on tissue expression from TISSUES for KCNK18 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KCNK18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK18 Gene

Orthologs for KCNK18 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNK18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNK18 33 34
  • 98.52 (n)
dog
(Canis familiaris)
Mammalia KCNK18 33 34
  • 79.35 (n)
cow
(Bos Taurus)
Mammalia KCNK18 33 34
  • 78.42 (n)
rat
(Rattus norvegicus)
Mammalia Kcnk18 33
  • 73.84 (n)
mouse
(Mus musculus)
Mammalia Kcnk18 33 16 34
  • 73.71 (n)
chicken
(Gallus gallus)
Aves KCNK18 33 34
  • 56.49 (n)
lizard
(Anolis carolinensis)
Reptilia KCNK18 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486306 33
  • 51.18 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnk18 33 34
  • 48.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10864 34
  • 19 (a)
OneToMany
CG43155 34
  • 19 (a)
OneToMany
CG8713 34
  • 19 (a)
OneToMany
CG42340 34
  • 15 (a)
OneToMany
CG9194 34
  • 13 (a)
OneToMany
CG1688 34
  • 10 (a)
OneToMany
CG34396 34
  • 8 (a)
OneToMany
CG42594 34
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea twk-48 34
  • 22 (a)
OneToMany
twk-10 34
  • 19 (a)
OneToMany
twk-3 34
  • 19 (a)
OneToMany
twk-4 34
  • 19 (a)
OneToMany
twk-40 34
  • 19 (a)
OneToMany
twk-18 34
  • 17 (a)
OneToMany
twk-23 34
  • 16 (a)
OneToMany
twk-28 34
  • 15 (a)
OneToMany
twk-37 34
  • 15 (a)
OneToMany
twk-13 34
  • 14 (a)
OneToMany
twk-24 34
  • 14 (a)
OneToMany
twk-26 34
  • 14 (a)
OneToMany
twk-29 34
  • 14 (a)
OneToMany
twk-42 34
  • 14 (a)
OneToMany
twk-45 34
  • 14 (a)
OneToMany
twk-7 34
  • 14 (a)
OneToMany
twk-9 34
  • 14 (a)
OneToMany
twk-21 34
  • 13 (a)
OneToMany
twk-34 34
  • 13 (a)
OneToMany
twk-35 34
  • 13 (a)
OneToMany
unc-58 34
  • 13 (a)
OneToMany
twk-32 34
  • 12 (a)
OneToMany
twk-33 34
  • 12 (a)
OneToMany
twk-36 34
  • 12 (a)
OneToMany
twk-39 34
  • 12 (a)
OneToMany
twk-43 34
  • 12 (a)
OneToMany
twk-17 34
  • 11 (a)
OneToMany
twk-30 34
  • 11 (a)
OneToMany
twk-8 34
  • 11 (a)
OneToMany
egl-23 34
  • 10 (a)
OneToMany
twk-12 34
  • 10 (a)
OneToMany
twk-16 34
  • 10 (a)
OneToMany
twk-22 34
  • 10 (a)
OneToMany
twk-25 34
  • 10 (a)
OneToMany
twk-44 34
  • 9 (a)
OneToMany
twk-31 34
  • 7 (a)
OneToMany
twk-11 34
  • 5 (a)
OneToMany
twk-2 34
  • 5 (a)
OneToMany
Species where no ortholog for KCNK18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNK18 Gene

ENSEMBL:
Gene Tree for KCNK18 (if available)
TreeFam:
Gene Tree for KCNK18 (if available)

Paralogs for KCNK18 Gene

No data available for Paralogs for KCNK18 Gene

Variants for KCNK18 Gene

Sequence variations from dbSNP and Humsavar for KCNK18 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs869025175 other 117,209,558(+) GCTCT(-/CT)TTGGT reference, frameshift-variant
rs1000675361 -- 117,201,799(+) GGGGA(C/T)GCTGC intron-variant
rs1000708940 -- 117,208,793(+) TGGAG(C/T)GCAAT intron-variant
rs1000763471 -- 117,198,564(+) AGCTT(G/T)TTATT intron-variant
rs1001066806 -- 117,210,388(+) GAGAC(A/C)TTCAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KCNK18 Gene

Variant ID Type Subtype PubMed ID
nsv832002 CNV gain+loss 17160897
esv3624674 CNV gain 21293372
esv34075 CNV loss 18971310

Variation tolerance for KCNK18 Gene

Residual Variation Intolerance Score: 61.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNK18 Gene

Human Gene Mutation Database (HGMD)
KCNK18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK18 Gene

Disorders for KCNK18 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KCNK18 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCNKI_HUMAN
  • Migraine with or without aura 13 (MGR13) [MIM:613656]: A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:20871611}. Note=The disease is caused by mutations affecting the gene represented in this entry. Susceptibility to migraine has been shown to be conferred by a frameshift mutation that segregates with the disorder in a large multigenerational family. Migraine was associated with sensitivity to lights, sounds, and smells, as well as nausea and occasional vomiting. Triggers included fatigue, alcohol and bright lights. Mutations in KCNK18 are a rare cause of migraine.

Relevant External Links for KCNK18

Genetic Association Database (GAD)
KCNK18
Human Genome Epidemiology (HuGE) Navigator
KCNK18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNK18
genes like me logo Genes that share disorders with KCNK18: view

No data available for Genatlas for KCNK18 Gene

Publications for KCNK18 Gene

  1. A novel two-pore domain K+ channel, TRESK, is localized in the spinal cord. (PMID: 12754259) Sano Y … Furuichi K (The Journal of biological chemistry 2003) 3 4 22 60
  2. N-linked glycosylation determines cell surface expression of two-pore-domain K+ channel TRESK. (PMID: 20006580) Egenberger B … Döring F (Biochemical and biophysical research communications 2010) 3 4 60
  3. TRESK background K(+) channel is inhibited by phosphorylation via two distinct pathways. (PMID: 20215114) Czirják G … Enyedi P (The Journal of biological chemistry 2010) 3 22 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. (PMID: 20871611) Lafrenière RG … Rouleau GA (Nature medicine 2010) 3 4 60

Products for KCNK18 Gene

Sources for KCNK18 Gene

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