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
RS2110115819 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2110129645 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110129653 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110133998 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110134005 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2110137964 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110141387 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110150747 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475869362 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475869382 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475869464 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475895954 Health Risk Pathogenic PKD2-related disorder, Polycystic kidney disease 2, PKD2-related disorder
RS2475895989 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475896175 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475901452 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475901790 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475901958 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease 2, Inborn genetic diseases
RS2475915193 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475915541 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475915681 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475916022 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475925118 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475925677 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2475941897 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475942083 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475953932 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475959308 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475959368 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970181 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970344 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970407 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475979288 Health Risk Pathogenic PKD2-related disorder, Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2475986221 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986648 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986839 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476008710 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476008728 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476008867 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476011688 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476357331 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357504 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476357618 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2476357791 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357829 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357872 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357922 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476358222 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476358800 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS369678636 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS398122932 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
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