Gene: SLC2A9

Alternate names for this Gene: GLUT9|GLUTX|UAQTL2|URATv1

Gene Summary: This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.1

Description of this Gene: solute carrier family 2 member 9

Type of Gene: protein-coding

rs10001964 in SLC2A9 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 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

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

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

PMID 17997608 2007 The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 18327257 2008 SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

PMID 18327256 2008 SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

rs149454410 in SLC2A9 gene and Creatinine measurement, serum (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs149454410 in SLC2A9 gene and Glomerular Filtration Rate PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs4481233 in SLC2A9 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs10001964 in SLC2A9 gene and Gout 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 18834626 2008 Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

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

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

PMID 17997608 2007 The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 18327257 2008 SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

PMID 18327256 2008 SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

rs149454410 in SLC2A9 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs121908321 in SLC2A9 gene and Hypouricemia, Renal, 2 PMID 19926891 2010 Homozygous SLC2A9 mutations cause severe renal hypouricemia.

PMID 21810765 2012 Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

PMID 19026395 2008 Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

rs149454410 in SLC2A9 gene and Kidney Failure, Chronic PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 30181573 2018 Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.

rs11934363 in SLC2A9 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

rs11338281 in SLC2A9 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11722228 in SLC2A9 gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs13129697 in SLC2A9 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10001964 in SLC2A9 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 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 31207883 2019 Influence of Genetic and Non-Genetic Risk Factors for Serum Uric Acid Levels and Hyperuricemia in Mexicans.

PMID 24513273 2014 The two independent SNPs rs11722228 and rs2231142 explained 1.03% and 1.09% of the total variation of UA levels, respectively.

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

PMID 22229870 2012 Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.

PMID 19260141 2009 Genome-wide association study of biochemical traits in Korcula Island, Croatia.

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

PMID 29558500 2018 Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 26902266 2016 Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.

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

PMID 18759275 2008 Followup genotyping revealed that a nonsynonymous coding SNP (Val253Ile; rs16890979) in GLUT9 was most strongly associated with uric acid levels, with each copy of the minor allele associated with a decrease of 0.47 mg/dl in the uric acid level (95% confidence interval 0.31-0.63 [P = 1.43 x 10(-11)]).

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 29408531 2018 The polymorphism rs671 at ALDH2 associated with serum uric acid levels in Chinese Han males: A genome-wide association study.

PMID 27668658 2016 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 24379826 2013 Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans.

PMID 17997608 2007 Individuals homozygous for the rare allele of rs6855911 (minor allele frequency = 0.26) had 0.6 mg/dl less uric acid than those homozygous for the common allele; the results were replicated in an unrelated cohort from Tuscany.

PMID 19503597 2009 We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women.

PMID 21983786 2011 Identification of low-frequency variants associated with gout and serum uric acid levels.

PMID 18327257 2008 SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

PMID 25898920 2016 Genomics and metabolomics of muscular mass in a community-based sample of UK females.

PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

PMID 18327256 2008 SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

PMID 30305239 2019 Genetic contributors to serum uric acid levels in Mexicans and their effect on premature coronary artery disease.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

rs13124563 in SLC2A9 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4481233 in SLC2A9 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.