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
RS1135401753 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1163840810 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS1187336837 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Inborn genetic diseases
RS1199709583 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918039 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918040 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS121918041 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS121918042 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS121918043 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1232369409 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1273223177 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1276594505 Health Risk Pathogenic Polycystic kidney disease 2, Inborn genetic diseases, PKD2-related disorder
RS1302726543 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Polycystic kidney disease
RS1313255190 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS1332881642 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1371793191 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Inborn genetic diseases, Polycystic kidney disease 2
RS1391596181 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1403371346 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1436409379 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1553923513 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1553924158 Health Risk Pathogenic —
RS1553924173 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1553925459 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1553925467 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1553925852 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1553926509 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1553926529 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS1553926905 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease, Polycystic kidney disease 2
RS1553927080 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, PKD2-related disorder
RS1553927823 Health Risk Pathogenic Polycystic liver disease 1, Polycystic kidney disease, Multicystic kidney dysplasia
RS1553928728 Health Risk Pathogenic —
RS1553928730 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1560592253 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1560597869 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560597874 Health Risk Pathogenic —
RS1560598042 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560608729 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560620277 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560621750 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560626561 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560628245 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1560632930 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2, PKD2-related disorder
RS1578111620 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578111741 Health Risk Pathogenic —
RS1578111778 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1578118330 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1578129049 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease, Polycystic kidney disease 2
RS1578130597 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578135823 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578135829 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
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