UMODL1

Chr 21

uromodulin like 1

NCBI Gene: 89766 ENSG00000177398 UniProt: Q5DID0 OMIM: 613859

The protein is predicted to bind calcium ions and inhibit peptidases, with predicted roles in cellular responses and ovarian follicle development. This gene shows extremely low constraint against loss-of-function variants (pLI near zero), suggesting that complete loss of function may be well-tolerated. No established human disease associations have been reported for UMODL1 mutations.

OMIM ResearchSummary from RefSeq

Predicted to enable calcium ion binding activity and peptidase inhibitor activity. Predicted to act upstream of or within several processes, including adipose tissue development; cellular response to gonadotropin-releasing hormone; and regulation of ovarian follicle development. Predicted to be located in cytoplasm; external side of plasma membrane; and extracellular region. Predicted to be active in cell surface and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 0.73

OE 0.90 (0.73–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.32Z-score

OE missense 1.03 (0.97–1.09)

906 obs / 878.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.90 (0.73–1.12)

0≤0.351.4

Missense OE?1.03 (0.97–1.09)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 58 / 64.4Missense obs/exp: 906 / 878.9Syn Z: -0.82

Background carrier burden — how many people carry a rare variant somewhere in UMODL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 18

2,076 rare PASS variants

Rare truncating (LoF)

1 in 140

324 rare PASS variants

Rare synonymous (reference)

1 in 36

853 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UMODL1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 30	1 in 280
South Asian	~43k	1 in 26	1 in 150
Remaining (unassigned)	~30k	1 in 15	1 in 150
European (Finnish)	~27k	1 in 91	1 in 1,100
Admixed American	~22k	1 in 17	1 in 150
African / African American	~21k	1 in 16	1 in 140
East Asian	~20k	1 in 21	1 in 190
Ashkenazi Jewish	~13k	1 in 56	≈ 1 in 2,900
Middle Eastern	~2,884	1 in 16	1 in 200

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 21 of 22 coding exons well covered in gnomAD exomes; exon 21 marginal. Genomes: all 22.? see exons ↓