Gene: SLC17A3

Alternate names for this Gene: GOUT4|NPT4|UAQTL4

Gene Summary: The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.2

Description of this Gene: solute carrier family 17 member 3

Type of Gene: protein-coding

rs1165148 in SLC17A3 gene and Arthritis, Gouty 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 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

rs79920061 in SLC17A3 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs13198474 in SLC17A3 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs501220 in SLC17A3 gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs1165160 in SLC17A3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs13211947 in SLC17A3 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs1408272 in SLC17A3 gene and Finding of Mean Corpuscular Hemoglobin PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs1165148 in SLC17A3 gene and Gout 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 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 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

rs1408270 in SLC17A3 gene and HIV Infections PMID 26148204 2015 Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202.

rs548987 in SLC17A3 gene and Homocysteine measurement PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

rs1408272 in SLC17A3 gene and Mean Corpuscular Volume (result) PMID 19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.

PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs17271121 in SLC17A3 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs13198474 in SLC17A3 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 19571809 2009 Common variants on chromosome 6p22.1 are associated with schizophrenia.

rs1408272 in SLC17A3 gene and Soluble Transferrin Receptor Measurement PMID 21149283 2011 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

rs1165148 in SLC17A3 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 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.