UMODL1

protein-coding

uromodulin like 1

Gene summary

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]

MANE transcript

NM_001004416.3

Inheritance

—

ClinVar variants

U:262B:41

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr21:42,062,959-42,143,453

External References & Databases

Ensembl (ENSG00000177398)

Transcript & Mutation Effects

hg38 • Region Span ~80.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UMODL1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 302

not providedTotal: 19

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001004416.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	9 clinvar	3 clinvar	13
missense			258 clinvar	29 clinvar		287
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	262	38	3	303

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001004416.3	RefSeq	NP_001004416.3	22	MANE Select
ENST00000408910.7	Ensembl	ENSP00000386147.2	22	MANE Select
NM_001199527.3	RefSeq	NP_001186456.2	20	Standard
NM_001199528.4	RefSeq	NP_001186457.3	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

single fertilization
negative regulation of peptidase activity
regulation of gene expression
regulation of apoptotic process
multicellular organismal reproductive process

Molecular Function

calcium ion binding
peptidase inhibitor activity

Cellular Component

extracellular space
cytoplasm
external side of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000408989
Coding exons: 21
Length: 80496
Individuals with no LoFs: 124080
Homozygous LoFs: 19
Heterozygous LoFs: 1649
Defined: 125748
p: 0.00665

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.324	906	879	1.03	0.0000536	9376
Missense (PolyPhen)		231	219.39	1.0529		2192
Synonymous	-0.818	409	388	1.05	0.0000270	3008
Loss of Function	0.734	58	64.4	0.901	0.00000337	657

Population LoF Frequency

Population	CAF	p-value	Status
African	0.043	0.040	notable
Latino/Admixed American	0.0066	0.0066	notable
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.029	0.029	notable
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.0013	0.0012	notable
South Asian	0.0035	0.0034	notable
Other	0.0040	0.0039	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.137
RVIS EVS: 3.92
RVIS percentile EVS: 99.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.143

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High