Entity Details

Primary name KCJ18_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionB7U540
EntryNameKCJ18_HUMAN
FullNameInward rectifier potassium channel 18
TaxID9606
Evidenceevidence at protein level
Length433
SequenceStatuscomplete
DateCreated2010-07-13
DateModified2021-06-02

Ontological Relatives

GenesKCNJ18

GO terms

Show/Hide Table
GOName
GO:0005242 inward rectifier potassium channel activity
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:1990573 potassium ion import across plasma membrane

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR003272 Potassium channel, inwardly rectifying, Kir2.2FamilyFamily
IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmicFamilyHomologous superfamily
IPR013673 Potassium channel, inwardly rectifying, Kir, N-terminalDomainDomain
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR016449 Potassium channel, inwardly rectifying, KirFamilyFamily
IPR040445 Potassium channel, inwardly rectifying, transmembrane domainDomainDomain
IPR041647 Inward rectifier potassium channel, C-terminalDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613239 OMIMThyrotoxic periodic paralysis 2 (TTPP2)A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
KCJ18_HUMANEMD_HUMANBioGRID, IntAct32296183 details
KCJ18_HUMANKCNJ2_HUMANBioGRID, IntAct32296183 details
KCJ18_HUMANDLG1_HUMANIntAct30126976 details