Entity Details

Primary name KCNK18
Entity type gene
Source Source Link

Details

PrimaryID338567
RefseqGeneNG_028085
SymbolKCNK18
Namepotassium two pore domain channel subfamily K member 18
Chromosome10
Location10q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsKCNKI_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0015269 calcium-activated potassium channel activity
GO:0015271 outward rectifier potassium channel activity
GO:0022841 potassium ion leak channel activity
GO:0030322 stabilization of membrane potential
GO:0071467 cellular response to pH
GO:0071805 potassium ion transmembrane transport
GO:0097623 potassium ion export across plasma membrane

Diseases

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Disease IDSourceNameDescription
613656 OMIMMigraine with or without aura 13 (MGR13)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. The disease is caused by variants 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.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
KCNK18TGFBR1BioGRID, HPRD15761153 details
KCNK18TGFBR2BioGRID, HPRD15761153 details