PKD2 Chromosome 4
Polycystin 2, transient receptor potential cation channel
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 |
|---|---|---|---|
| RS398123308 | Health Risk | Pathogenic | Polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS555242193 | Health Risk | Pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Polycystic kidney disease 2 |
| RS571950456 | Health Risk | Pathogenic | — |
| RS58606740 | Health Risk | Pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Renal cyst |
| RS747688660 | Health Risk | Pathogenic | Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS749004212 | Health Risk | Pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease, Polycystic kidney disease 2 |
| RS755226061 | Health Risk | Pathogenic | Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS757682666 | Health Risk | Pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2, PKD2-related disorder |
| RS757757289 | Health Risk | Pathogenic | Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS770308463 | Health Risk | Pathogenic | Polycystic kidney disease, Polycystic kidney disease |
| RS776718970 | Health Risk | Pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS778235410 | Health Risk | Pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS879247939 | Health Risk | Pathogenic | — |
| RS924484889 | Health Risk | Pathogenic | Polycystic kidney disease, Polycystic kidney disease |
| RS1131692280 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Polycystic kidney disease 2 |
| RS1324209174 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS1355372474 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Polycystic kidney disease 2, Cystic renal disease |
| RS145877597 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, PKD2-related disorder, Polycystic kidney disease 2 |
| RS146396414 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS1553925453 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease |
| RS1553925470 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1553926929 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS1553927436 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS1553927783 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Polycystic kidney disease 2 |
| RS1560626499 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1578111345 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1578111378 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS1578130676 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS1578139269 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1720121027 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1720124087 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS1720129561 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease |
| RS1720429890 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS1726229033 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS1726246959 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease |
| RS1727420867 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Inborn genetic diseases, PKD2-related disorder |
| RS2110089248 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS2110104722 | Health Risk | Pathogenic/Likely pathogenic | Squamous cell lung carcinoma, PKD2-related disorder, Polycystic kidney disease 2 |
| RS2110127334 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, PKD2-related disorder, Polycystic kidney disease 2 |
| RS2110133920 | Health Risk | Pathogenic/Likely pathogenic | Hyperechogenic kidneys, Multiple renal cysts, Enlarged kidney |
| RS2110138755 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS2475869442 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |
| RS2475979108 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS752024467 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease |
| RS780351760 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS886041114 | Health Risk | Pathogenic/Likely pathogenic | Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2 |