UBL3

Chr 13

ubiquitin like 3

Also known as: HCG-1, PNSC1

NCBI Gene: 5412ENSG00000122042UniProt: O95164OMIM: 604711

UBL3 encodes a ubiquitin-like protein that is found in extracellular exosomes. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.544), but specific disease associations and inheritance patterns for UBL3 mutations have not been established. Clinical phenotypes resulting from UBL3 variants require further characterization.

OMIMResearchSummary from RefSeq
LOEUF 0.54
Clinical Summary— UBL3
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.74) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 12 VUS of 52 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.735
Z-score 2.42
OE 0.11 (0.04–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.29Z-score
OE missense 0.55 (0.42–0.72)
35 obs / 64.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.04–0.54)
0≤0.351.4
Missense OE0.55 (0.42–0.72)
0≤0.61.4
Synonymous OE0.79
0≤1.21.6
LoF obs/exp: 1 / 8.7Missense obs/exp: 35 / 64.1Syn Z: 0.77

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic3
VUS12
Likely Benign1
33
Pathogenic
3
Likely Pathogenic
12
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
33
0
33
Likely Pathogenic
0
0
3
0
3
VUS
0
9
3
0
12
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total0940049

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

UBL3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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