UMOD

Chr 16

uromodulin

Also known as: ADMCKD2, ADTKD1, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP

NCBI Gene: 7369ENSG00000169344UniProt: P07911

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTubulointerstitial kidney disease, autosomal dominant 1

Clinical highlights

Gene-disease validity (ClinGen)
autosomal dominant medullary cystic kidney disease with or without hyperuricemia · ADDefinitivesufficient evidence for diagnostic panels
2
Active trials
83
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — UMOD
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.46
OE 0.91 (0.67–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.00Z-score
OE missense 0.86 (0.78–0.94)
336 obs / 391.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.67–1.25)
0≤0.351.4
Missense OE?0.86 (0.78–0.94)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 27 / 29.7Missense obs/exp: 336 / 391.6Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UMOD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients