PKD2 Chromosome 4

Polycystin 2, transient receptor potential cation channel
296 variants 296 Health Risk

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What This Gene Does
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Transient receptor potential cation channels|EF-hand domain containing"
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000118762
Associated Conditions (29)
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Inborn genetic diseases
PKD2-related disorder
Polycystic kidney disease
Kidney failure
Joubert syndrome 7
Multiple renal cysts
Hydrocele testis
Hypertensive disorder
Chronic kidney disease
Elevated systolic blood pressure
Elevated diastolic blood pressure
Autosomal recessive polycystic kidney disease
Polycystic liver disease 1
Multicystic kidney dysplasia
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
+9 more conditions
Key Variants
RS1216272782
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
Health Risk
RS1331921848
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Inborn genetic diseases
Health Risk
RS138132026
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, PKD2-related disorder
Health Risk
RS138495345
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
Health Risk
RS138982773
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, Polycystic kidney disease 2
Health Risk
RS139787413
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, Polycystic kidney disease 2
Health Risk
RS144590958
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
Health Risk
RS145343957
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Polycystic kidney disease, Polycystic kidney disease 2
Health Risk
RS145716012
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
Health Risk
RS145952917
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
Health Risk
RS147000344
Conflicting classifications of pathogenicity
Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Autosomal dominant polycystic kidney disease
Health Risk
RS1474473957
Conflicting classifications of pathogenicity
Polycystic kidney disease 2, PKD2-related disorder, Polycystic kidney disease 2
Health Risk
All Variants (296)
RSID Category Clinical Significance Conditions
RS1216272782 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1331921848 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS138132026 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, PKD2-related disorder
RS138495345 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS138982773 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS139787413 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS144590958 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS145343957 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease, Polycystic kidney disease 2
RS145716012 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS145952917 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS147000344 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS1474473957 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, PKD2-related disorder, Polycystic kidney disease 2
RS148386297 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS150947109 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS1578135842 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578142944 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578153598 Health Risk Conflicting classifications of pathogenicity PKD2-related disorder, Polycystic kidney disease 2, PKD2-related disorder
RS1720430638 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, PKD2-related disorder
RS1720774022 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1726226920 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases, PKD2-related disorder
RS1727324181 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727333486 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder, Polycystic kidney disease 2
RS1727651995 Health Risk Conflicting classifications of pathogenicity —
RS199723110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS200314088 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS200543024 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Inborn genetic diseases
RS201267638 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Kidney failure
RS201679112 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS201789789 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, PKD2-related disorder, Autosomal dominant polycystic kidney disease
RS2110104859 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110133917 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS2234917 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS2475901770 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 2, Inborn genetic diseases
RS2475954193 Health Risk Conflicting classifications of pathogenicity PKD2-related disorder, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2476358625 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS369908107 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS371898195 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder, Autosomal dominant polycystic kidney disease
RS374450718 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS375164861 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS376271163 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS398123306 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS535577967 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, PKD2-related disorder
RS541524392 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS559555727 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS748654180 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS748855749 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS749666891 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder, Autosomal dominant polycystic kidney disease
RS75762896 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS763507546 Health Risk Conflicting classifications of pathogenicity Multiple renal cysts, Hydrocele testis, Autosomal dominant polycystic kidney disease
RS764334983 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
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