PKD2 Chromosome 4

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

Upload your DNA to see your personal genotypes for variants in PKD2.

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
RS1578135870 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, PKD2-related disorder
RS1578135940 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease, Polycystic kidney disease 2
RS1578142941 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578144873 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578144898 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578147448 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578148821 Health Risk Pathogenic —
RS1720126853 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720127024 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720128947 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS1720325511 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720325828 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720430411 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720431219 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS1720594399 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1720752309 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720855394 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720863460 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1721205608 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726231891 Health Risk Pathogenic Polycystic kidney disease 2, Inborn genetic diseases, Polycystic kidney disease 2
RS1726233533 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1726245372 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726249249 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726258048 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1726673986 Health Risk Pathogenic Polycystic kidney disease 2, PKD2-related disorder, Thyroid cancer
RS1726676402 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS1726677278 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727326556 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727333593 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, Ovarian serous cystadenocarcinoma
RS1727412388 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727412539 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727413505 Health Risk Pathogenic Polycystic kidney disease, adult type, Autosomal dominant polycystic kidney disease
RS1727413597 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727423812 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727648258 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1727649413 Health Risk Pathogenic —
RS1727782355 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727790591 Health Risk Pathogenic Polycystic kidney disease 2, Renal cyst, Polycystic kidney disease 2
RS200001068 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110080128 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110089194 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110104725 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110104830 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110104877 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2110107069 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110107236 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2110107239 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110112083 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110112181 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110112194 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
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