KCNV2 Chromosome 9

Potassium voltage-gated channel modifier subfamily V member 2
111 variants 4 Drug Response 107 Health Risk

Upload your DNA to see your personal genotypes for variants in KCNV2.

What This Gene Does
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
9p24.2
Ensembl
ENSG00000168263
Associated Conditions (11)
Cone dystrophy with supernormal rod response
Stargardt disease
Progressive cone dystrophy (without rod involvement)
Inborn genetic diseases
Retinal dystrophy
KCNV2-related disorder
Cone dystrophy
Cone dystrophy 3
Nystagmus
Abnormality of the nervous system
cone dystrophy with supernormal rod electroretinogram
Key Variants
RS104894114
drug response
Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
Drug Response
RS104894115
drug response
Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
Drug Response
RS104894116
drug response
Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
Drug Response
RS1402837406
Pathogenic; drug response
Cone dystrophy with supernormal rod response, Stargardt disease, Progressive cone dystrophy (without rod involvement)
Drug Response
RS138861317
Conflicting classifications of pathogenicity
Health Risk
RS139767162
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140256288
Conflicting classifications of pathogenicity
Cone dystrophy with supernormal rod response, Retinal dystrophy, KCNV2-related disorder
Health Risk
RS1403529555
Conflicting classifications of pathogenicity
Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
Health Risk
RS143109320
Conflicting classifications of pathogenicity
Cone dystrophy with supernormal rod response, KCNV2-related disorder, Cone dystrophy with supernormal rod response
Health Risk
RS143138491
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS143189186
Conflicting classifications of pathogenicity
Cone dystrophy with supernormal rod response, Inborn genetic diseases, Cone dystrophy with supernormal rod response
Health Risk
RS145394914
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (111)
RSID Category Clinical Significance Conditions
RS104894114 Drug Response drug response Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS104894115 Drug Response drug response Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS104894116 Drug Response drug response Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS1402837406 Drug Response Pathogenic; drug response Cone dystrophy with supernormal rod response, Stargardt disease, Progressive cone dystrophy (without rod involvement)
RS138861317 Health Risk Conflicting classifications of pathogenicity
RS139767162 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140256288 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy, KCNV2-related disorder
RS1403529555 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS143109320 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, KCNV2-related disorder, Cone dystrophy with supernormal rod response
RS143138491 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS143189186 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases, Cone dystrophy with supernormal rod response
RS145394914 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145731729 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy 3, KCNV2-related disorder
RS146659188 Health Risk Conflicting classifications of pathogenicity
RS147022958 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases, Cone dystrophy with supernormal rod response
RS1479733252 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS148031263 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, KCNV2-related disorder, Cone dystrophy with supernormal rod response
RS149648640 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy, Nystagmus
RS1819772981 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1819797955 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199735148 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199886720 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS200444639 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS200983782 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, Inborn genetic diseases, KCNV2-related disorder
RS201564009 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS201975160 Health Risk Conflicting classifications of pathogenicity
RS370044423 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases, Cone dystrophy with supernormal rod response
RS372942165 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS530163400 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS534563578 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS537588654 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543226684 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases, Retinal dystrophy
RS545829113 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS558295858 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, KCNV2-related disorder
RS568147806 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS748032810 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748180390 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS753147277 Health Risk Conflicting classifications of pathogenicity
RS75645675 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy, Cone dystrophy with supernormal rod response
RS762082451 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS766549271 Health Risk Conflicting classifications of pathogenicity
RS767774622 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS771193813 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773293657 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777604507 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases, Cone dystrophy with supernormal rod response
RS781116632 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, KCNV2-related disorder
RS886063819 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS946520647 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS1369674746 Health Risk Likely pathogenic
RS141099767 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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