PKD1 Chromosome 16
Polycystin 1, transient receptor potential channel interacting
Upload your DNA to see your personal genotypes for variants in PKD1.
What This Gene Does
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"C-type lectin domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000008710
Associated Conditions (51)
Polycystic kidney disease
adult type
PKD1-related disorder
Autosomal dominant polycystic kidney disease
Chronic kidney disease
Inborn genetic diseases
Biliary tract abnormality
Breast-ovarian cancer
familial
susceptibility to
5
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
Familial cancer of breast
Congenital anomaly of kidney and urinary tract
Polycystic kidney disease 3 with or without polycystic liver disease
Elevated circulating creatine kinase concentration
Lower limb amyotrophy
Lower limb muscle weakness
Achilles tendon contracture
Polycystic liver disease 1
+31 more conditions
Key Variants
RS1022699284
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Polycystic kidney disease
Health Risk
RS1060499699
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, PKD1-related disorder
Health Risk
RS1063405
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Polycystic kidney disease
Health Risk
RS115538130
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Chronic kidney disease
Health Risk
RS1163700577
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Autosomal dominant polycystic kidney disease
Health Risk
RS1183794501
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Inborn genetic diseases
Health Risk
RS1185676416
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Polycystic kidney disease
Health Risk
RS1188643869
Conflicting classifications of pathogenicity
PKD1-related disorder, Polycystic kidney disease, adult type
Health Risk
RS1219270797
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1232180956
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Autosomal dominant polycystic kidney disease
Health Risk
RS1247882278
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Polycystic kidney disease
Health Risk
RS1303102528
Conflicting classifications of pathogenicity
Polycystic kidney disease, adult type, Polycystic kidney disease
Health Risk
All Variants (1444)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2092679766 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2092684310 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2092941002 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151684548 | Health Risk | Likely pathogenic | — |
| RS2151695275 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151695909 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, PKD1-related disorder |
| RS2151697557 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151697614 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2151698069 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Autosomal dominant polycystic kidney disease |
| RS2151699891 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151704173 | Health Risk | Likely pathogenic | Enlarged kidney, Hyperechogenic kidneys, Multiple renal cysts |
| RS2151704874 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Autosomal dominant polycystic kidney disease |
| RS2151708577 | Health Risk | Likely pathogenic | — |
| RS2151708958 | Health Risk | Likely pathogenic | — |
| RS2151726823 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease, adult type |
| RS2151738493 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151741177 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151748829 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151750082 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151755878 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151756041 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151766800 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151771879 | Health Risk | Likely pathogenic | — |
| RS2151772458 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151783532 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151790460 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2151798259 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151799171 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151806438 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Polycystic kidney disease, adult type |
| RS2151809215 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151816064 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151819777 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151820655 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151824152 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2151826018 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2151826530 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2544578450 | Health Risk | Likely pathogenic | — |
| RS2544587726 | Health Risk | Likely pathogenic | — |
| RS2544599608 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544600517 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544619495 | Health Risk | Likely pathogenic | — |
| RS2544619758 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, PKD1-related disorder |
| RS2544620365 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544631133 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544631346 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544648778 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544689115 | Health Risk | Likely pathogenic | — |
| RS2544712917 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult (ADPKD), Polycystic kidney disease |
| RS2544715201 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2544717535 | Health Risk | Likely pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |