AlphaFold predicted structure
UMOD · P07911
Mean pLDDT
82.9/ 100
Confident
640 residues
Confidence breakdown
- Very high(≥ 90)50%
- Confident(70–90)34%
- Low(50–70)7%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
UMOD
Chr 16p12.3uromodulin
- MANE:
- ENST00000396138.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLikely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRenal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedTubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUndiagnosed metabolic disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUnexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
familial juvenile hyperuricemic nephropathy type 1
0.84autosomal dominant medullary cystic kidney disease with or without hyperuricemia
0.73chronic kidney disease
0.61kidney failure
0.60hypertensive disorder
0.55essential hypertension
0.55kidney disorder
0.54nephrolithiasis
0.54cystic kidney disease
0.53anemia
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Uromodulin
Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515)
Diseases associated with UMOD
Curated MONDO disease pages that list UMOD among their top associated genes.