KCNV2 Chromosome 9
Potassium voltage-gated channel modifier subfamily V member 2
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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 |
|---|---|---|---|
| RS1554628460 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1586686896 | Health Risk | Likely pathogenic | cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram |
| RS1586687247 | Health Risk | Likely pathogenic | cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram |
| RS1586692857 | Health Risk | Likely pathogenic | cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram |
| RS1819768982 | Health Risk | Likely pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS1819778559 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1819778622 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1819787095 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS754275640 | Health Risk | Likely pathogenic | cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal rod response, Retinal dystrophy |
| RS760755040 | Health Risk | Likely pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS763785730 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS777154728 | Health Risk | Likely pathogenic | — |
| RS778977288 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS977790637 | Health Risk | Likely pathogenic | Retinal dystrophy, KCNV2-related disorder, Retinal dystrophy |
| RS1033681137 | Health Risk | Pathogenic | — |
| RS1252195949 | Health Risk | Pathogenic | — |
| RS1257547518 | Health Risk | Pathogenic | — |
| RS1272477167 | Health Risk | Pathogenic | — |
| RS1318199256 | Health Risk | Pathogenic | — |
| RS1385132304 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS138924201 | Health Risk | Pathogenic | Cone dystrophy, Cone dystrophy |
| RS139027297 | Health Risk | Pathogenic | Cone dystrophy, Retinal dystrophy, Cone dystrophy |
| RS1432037634 | Health Risk | Pathogenic | — |
| RS1478587308 | Health Risk | Pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS1563795658 | Health Risk | Pathogenic | — |
| RS1563796333 | Health Risk | Pathogenic | — |
| RS1586686845 | Health Risk | Pathogenic | cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram |
| RS1586687216 | Health Risk | Pathogenic | cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod electroretinogram |
| RS1819808781 | Health Risk | Pathogenic | — |
| RS200148749 | Health Risk | Pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS2130860471 | Health Risk | Pathogenic | — |
| RS2130860673 | Health Risk | Pathogenic | — |
| RS2130860955 | Health Risk | Pathogenic | — |
| RS2130860973 | Health Risk | Pathogenic | — |
| RS2130861136 | Health Risk | Pathogenic | — |
| RS2130861209 | Health Risk | Pathogenic | — |
| RS2536972468 | Health Risk | Pathogenic | — |
| RS2536972479 | Health Risk | Pathogenic | — |
| RS2536973791 | Health Risk | Pathogenic | — |
| RS369069912 | Health Risk | Pathogenic | — |
| RS387907302 | Health Risk | Pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS569992163 | Health Risk | Pathogenic | — |
| RS748280472 | Health Risk | Pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS751600925 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS753157401 | Health Risk | Pathogenic | — |
| RS758877996 | Health Risk | Pathogenic | — |
| RS768486552 | Health Risk | Pathogenic | Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response |
| RS770865610 | Health Risk | Pathogenic | — |
| RS772921412 | Health Risk | Pathogenic | — |
| RS774446358 | Health Risk | Pathogenic | — |