Entity Details

Primary name KCNT2
Entity type gene
Source Source Link

Details

PrimaryID343450
RefseqGene
SymbolKCNT2
Namepotassium sodium-activated channel subfamily T member 2
Chromosome1
Location1q31.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNT2_HUMAN

GO terms

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GOName
GO:0005228 intracellular sodium activated potassium channel activity
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0015271 outward rectifier potassium channel activity
GO:0016021 integral component of membrane
GO:0070089 chloride-activated potassium channel activity
GO:0097623 potassium ion export across plasma membrane

Diseases

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Disease IDSourceNameDescription
617771 OMIMDevelopmental and epileptic encephalopathy 57 (DEE57)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE57 is an autosomal dominant condition. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
KCNT2FAM189BBioGRID, IntAct28514442 details
KCNT2TNFRSF10ABioGRID, IntAct28514442 details
KCNT2ZNRF4BioGRID, IntAct28514442 details
KCNT2PCDHB16BioGRID, IntAct28514442 details
KCNT2SLC17A2BioGRID, IntAct28514442 details
KCNT2IL17RCBioGRID, IntAct28514442 details
KCNT2PCDHA3BioGRID, IntAct28514442 details
KCNT2IL4RBioGRID, IntAct28514442 details
KCNT2PRKAG2BioGRID31900314 details