Gene: UMOD

Alternate names for this Gene: ADMCKD2|FJHN|HNFJ|HNFJ1|MCKD2|THGP|THP

Gene Summary: The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.3

Description of this Gene: uromodulin

Type of Gene: protein-coding

rs12917707 in UMOD gene and Chronic Kidney Diseases PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 21931561 2011 Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

rs12917707 in UMOD gene and Creatinine measurement, serum (procedure) PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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

rs12917707 in UMOD gene and Diabetes PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs12917707 in UMOD gene and Diabetes Mellitus PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs13333226 in UMOD gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

rs13333226 in UMOD gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs12917707 in UMOD gene and Glomerular Filtration Rate PMID 23535967 2013 Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 29703844 2018 A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

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

rs121917773 in UMOD gene and Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

PMID 14570709 2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

rs13333226 in UMOD gene and Hypertensive disease PMID 21082022 2010 In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003).

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 21082022 2010 Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.

rs143583842 in UMOD gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs121917768 in UMOD gene and Hyperuricemic Nephropathy, Familial Juvenile 1 PMID 15086896 2004 Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

PMID 22776760 2012 Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.

PMID 15983957 2005 A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

PMID 23988501 2013 Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

PMID 23197950 2012 A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene.

PMID 14570709 2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

PMID 12900848 2003 Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.

PMID 12471200 2002 Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

PMID 15575003 2004 Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

PMID 12629136 2003 UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

PMID 14569098 2003 A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

PMID 25436415 2015 Pathogenic uromodulin mutations result in premature intracellular polymerization.

PMID 21060763 2010 A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.

rs12917707 in UMOD gene and Kidney Failure, Chronic PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 25493955 2015 Genome-wide association study of kidney function decline in individuals of European descent.

PMID 19430482 2009 Multiple loci associated with indices of renal function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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

PMID 20686651 2010 Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

rs1555487621 in UMOD gene and Medullary Cystic Kidney Disease Type 2 PMID 27729211 2017 A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

PMID 12471200 2002 Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

PMID 14570709 2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

PMID 14531790 2003 Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

PMID 25436415 2015 Pathogenic uromodulin mutations result in premature intracellular polymerization.

rs143583842 in UMOD gene and Uric acid measurement (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

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

rs12922822 in UMOD gene and Velopharyngeal dysfunction PMID 29855589 2018 GWAS reveals loci associated with velopharyngeal dysfunction.