Entity Details

Primary name KCNV2
Entity type gene
Source Source Link

Details

PrimaryID169522
RefseqGeneNG_012181
SymbolKCNV2
Namepotassium voltage-gated channel modifier subfamily V member 2
Chromosome9
Location9p24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-27
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsKCNV2_HUMAN

GO terms

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GOName
GO:0005249 voltage-gated potassium channel activity
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016021 integral component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0071805 potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
610356 OMIMCone dystrophy retinal 3B (RCD3B)A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
KCNV2ANKRD28BioGRID, IntAct32296183 details
KCNV2KCNB1BioGRID, HPRD12060745 details
KCNV2KCNC1BioGRID, HPRD12060745 details
KCNV2KCNF1BioGRID, HPRD12060745 details
KCNV2AMZ2BioGRID, IntAct28514442 details
KCNV2MTHFRBioGRID, IntAct28514442 details
KCNV2HSPA8BioGRID, IntAct28514442 details
KCNV2VIRMABioGRID29507755 details