UEVLD

protein-coding

UEV and lactate/malate dehyrogenase domains

Gene summary

Predicted to enable ubiquitin binding activity. Predicted to be involved in endosome to lysosome transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001040697.4

Inheritance

—

ClinVar variants

U:69B:5

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.59

Max pathogenic AF

—

Genomic locus

chr11:18,529,609-18,588,747

External References & Databases

Ensembl (ENSG00000151116)

Transcript & Mutation Effects

hg38 • Region Span ~59.1 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 UEVLD variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 63

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001040697.4. 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			2 clinvar	2 clinvar		4
missense			62 clinvar	3 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	69	5	0	74

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 70 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001040697.4	RefSeq	NP_001035787.1	12	MANE Select
ENST00000396197.8	Ensembl	ENSP00000379500.2	12	MANE Select
NM_001261382.3	RefSeq	NP_001248311.1	11	Standard
NM_001261383.3	RefSeq	NP_001248312.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

protein ubiquitylation

Biological Process

carbohydrate metabolic process
cellular protein modification process
biological_process
protein transport
carboxylic acid metabolic process

Molecular Function

molecular_function
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000396197
Coding exons: 12
Length: 59139
Individuals with no LoFs: 125698
Homozygous LoFs: 0
Heterozygous LoFs: 49
Defined: 125747
p: 0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.792	205	240	0.856	0.0000113	3066
Missense (PolyPhen)		69	99.775	0.69155		1336
Synonymous	0.505	82	88.0	0.932	0.00000438	897
Loss of Function	1.87	14	23.9	0.587	0.00000107	304

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00027	0.00025	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00061	0.00060	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00024	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Possible negative regulator of polyubiquitination. {ECO:0000269|PubMed:12427560}.;

Recessive Scores

pRec: 0.149

Intolerance Scores

LoFtool: 0.324
RVIS EVS: -0.4
RVIS percentile EVS: 26.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.717

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium