Gene: PKD2

Alternate names for this Gene: APKD2|PC2|PKD4|Pc-2|TRPP2

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.1

Description of this Gene: polycystin 2, transient receptor potential cation channel

Type of Gene: protein-coding

rs10965 in PKD2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

PMID 30899057 2019 Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

rs2725207 in PKD2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs10965 in PKD2 gene and Gout PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

PMID 30899057 2019 Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.

PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

rs1131692280 in PKD2 gene and Multiple congenital anomalies PMID 26275819 2015 A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease.

PMID 9856528 1998 PKD and CF: an interesting family provides insight into the molecular pathophysiology of polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 9856513 1998 Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease.

PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 11095651 2000 CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

PMID 24925719 2014 Predictors of autosomal dominant polycystic kidney disease progression.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 17429049 2007 Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 23376035 2013 Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy.

rs1131692280 in PKD2 gene and Polycystic Kidney, Autosomal Dominant PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

PMID 22863349 2012 Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 10411676 1999 Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

PMID 22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 8650545 1996 PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

PMID 23300259 2013 Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

PMID 27499327 2016 Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

PMID 25333066 2014 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

PMID 11968093 2002 Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

PMID 25574838 2015 Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

PMID 16540757 2006 Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.

PMID 17100995 2006 PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.

PMID 28356211 2017 PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

PMID 15192819 2004 [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph].

PMID 15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

PMID 24374109 2014 Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

PMID 27782177 2016 System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

PMID 10760080 2000 Location of mutations within the PKD2 gene influences clinical outcome.

PMID 10541293 1999 Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

rs121918043 in PKD2 gene and Polycystic kidney disease, type 2 PMID 10541293 1999 Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

PMID 11968093 2002 Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

PMID 10411676 1999 Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

PMID 9326320 1997 A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

PMID 29899465 2018 Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.

PMID 15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

PMID 27214281 2016 The polycystin complex mediates Wnt/Ca(2+) signalling.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 21115670 2011 Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

PMID 14993477 2004 PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

PMID 10835625 2000 Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

PMID 11854751 2002 Polycystin-2 is an intracellular calcium release channel.

PMID 27071085 2016 Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.

rs2725205 in PKD2 gene and Uric acid measurement (procedure) PMID 19503597 2009 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

PMID 22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

PMID 28776340 2017 ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.