UMOD Chromosome 16
Uromodulin
Upload your DNA to see your personal genotypes for variants in UMOD.
What This Gene Does
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. [provided by RefSeq, Jul 2013]
Associated Conditions (8)
Essential hypertension
Familial juvenile hyperuricemic nephropathy type 1
Inborn genetic diseases
Cystic renal disease
Kidney disorder
UMOD-related disorder
Chronic kidney disease
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Key Variants
RS13333226
association
Essential hypertension, Essential hypertension
Health Risk
RS1002670314
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS1064796542
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Cystic renal disease, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS111992415
Conflicting classifications of pathogenicity
Kidney disorder, UMOD-related disorder, Kidney disorder
Health Risk
RS1228791562
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS138682701
Conflicting classifications of pathogenicity
UMOD-related disorder, Inborn genetic diseases, UMOD-related disorder
Health Risk
RS139607138
Conflicting classifications of pathogenicity
UMOD-related disorder, UMOD-related disorder
Health Risk
RS141800038
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS143248111
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS143583842
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS143641292
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
RS1567309965
Conflicting classifications of pathogenicity
Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567309582 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1567309813 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1567310019 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1567310155 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1567311279 | Health Risk | Likely pathogenic | — |
| RS1596552335 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1965716874 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1965729129 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1965732404 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1965755740 | Health Risk | Likely pathogenic | Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |
| RS1965764292 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2141648298 | Health Risk | Likely pathogenic | — |
| RS2141676543 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2141676976 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507384602 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507386350 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507386812 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507387572 | Health Risk | Likely pathogenic | — |
| RS2507389035 | Health Risk | Likely pathogenic | UMOD-related disorder, UMOD-related disorder |
| RS2507390595 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507390949 | Health Risk | Likely pathogenic | — |
| RS2507391033 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS28934584 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1 |
| RS747592262 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS750535100 | Health Risk | Likely pathogenic | — |
| RS780475918 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1 |
| RS781101544 | Health Risk | Likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1057515585 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS121917769 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS121917770 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS121917771 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS121917772 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS121917773 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1555487528 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1596560944 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1596561934 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS1965741911 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2141676232 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2141676533 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2141676806 | Health Risk | Pathogenic | — |
| RS2507387073 | Health Risk | Pathogenic | — |
| RS2507388032 | Health Risk | Pathogenic | — |
| RS2507390389 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507391567 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS2507391645 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS28934582 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS28934583 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS398122388 | Health Risk | Pathogenic | Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1 |
| RS398123698 | Health Risk | Pathogenic | — |
| RS766919534 | Health Risk | Pathogenic | Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |