KCNK18

Protein identityUniProt · HPA

UniProt accession

Q7Z418

Gene

KCNK18

Ensembl

ENSG00000186795

Chromosome

10

Canonical length

384 aa

Protein class

Disease related genes, Potential drug targets, Predicted membrane proteins, Voltage-gated ion channels

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>Q7Z418|KCNK18
     1  MEVSGHPQAR RCCPEALGKL FPGLCFLCFL VTYALVGAVV FSAIEDGQVL VAADDGEFEK
    61  FLEELCRILN CSETVVEDRK QDLQGHLQKV KPQWFNRTTH WSFLSSLFFC CTVFSTVGYG
   121  YIYPVTRLGK YLCMLYALFG IPLMFLVLTD TGDILATILS TSYNRFRKFP FFTRPLLSKW
   181  CPKSLFKKKP DPKPADEAVP QIIISAEELP GPKLGTCPSR PSCSMELFER SHALEKQNTL
   241  QLPPQAMERS NSCPELVLGR LSYSIISNLD EVGQQVERLD IPLPIIALIV FAYISCAAAI
   301  LPFWETQLDF ENAFYFCFVT LTTIGFGDTV LEHPNFFLFF SIYIIVGMEI VFIAFKLVQN
   361  RLIDIYKNVM LFFAKGKFYH LVKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNK18 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

0.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNK18.

Disease | AllUniProt

Conditions KCNK18 is implicated in, by any mechanism.

• Migraine with or without aura 13 (MGR13) MIM:613656

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 100 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Migraine, with or without aura, susceptibility to, 13
• KCNK18-related neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.11

gnomAD pLI

0

gnomAD missense Z

-0.27

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to pH
• potassium ion export across plasma membrane
• potassium ion transmembrane transport
• potassium ion transport
• regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation

Molecular functions

• calcium-activated potassium channel activity
• metal ion binding
• outward rectifier potassium channel activity
• potassium ion leak channel activity

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Two pore domain potassium channel
• Potassium channel domain
• Ion channel

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Ion channel
• Ion transport
• Membrane
• Metal-binding
• Phosphoprotein
• Potassium
• Potassium channel
• Potassium transport
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of KCNK18 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• YWHAH