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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBE2U
ubiquitin conjugating enzyme E2 U
Chromosome 1 · 1p31.3
NCBI Gene: 148581Ensembl: ENSG00000177414.14HGNC: HGNC:28559UniProt: A0A0A0MRP4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin conjugating enzyme activityproteasome-mediated ubiquitin-dependent protein catabolic processHULC complexAbnormality of the skeletal systemasthmamusculoskeletal system diseasemedical procedure
✦AI Summary

UBE2U is a ubiquitin-conjugating enzyme (E2) that catalyzes the covalent attachment of ubiquitin to target proteins, facilitating protein polyubiquitination and proteasome-mediated protein degradation. Mechanistically, UBE2U functions as part of the HULC complex and partners with the E3 ligase RNF17 to regulate chr1 responses at DNA double-strand breaks through the RIDDLE syndrome protein RNF168 1. The enzyme plays a critical role in DNA damage signaling, as demonstrated by its identification in screens for regulators of 53BP1 mobilization to ionizing radiation-induced breaks 1. Beyond DNA repair, UBE2U exhibits tissue-specific DNA methylation patterns, showing hypomethylation specifically in sperm compared to other body fluids, making it a useful forensic marker for tissue identification 2. Clinically, UBE2U variants have been associated with multi-system conditions including retinoschisis, cataracts, learning disabilities, and developmental delay in inherited retinal dystrophies 3. Additionally, genetic variants in UBE2U reached genome-wide significance in association with 2-hour postprandial insulin levels in a Chinese population GWAS 4, suggesting potential involvement in glucose metabolism and diabetes risk. These findings indicate UBE2U has diverse roles spanning DNA damage responses, metabolic regulation, and developmental processes.

Sources cited
1
UBE2U partners with E3 ligase RNF17 to regulate RNF168-mediated DNA damage responses and 53BP1 mobilization at double-strand breaks
PMID: 27903633
2
UBE2U is hypomethylated specifically in sperm compared to other body fluids and serves as a forensic tissue identification marker
PMID: 32891597
3
UBE2U variants are associated with multi-system inherited retinal dystrophy presenting with retinoschisis, cataracts, learning disabilities, and developmental delay
PMID: 33776059
4
UBE2U genetic variants reach genome-wide significance for association with 2-hour postprandial insulin levels in Chinese Han population
PMID: 35971929
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.39Weak
asthmaOpen Targets
0.34Weak
musculoskeletal system diseaseOpen Targets
0.33Weak
complicationOpen Targets
0.15Weak
medical procedureOpen Targets
0.15Weak
trauma complicationOpen Targets
0.15Weak
duodenitisOpen Targets
0.15Weak
benign neoplasmOpen Targets
0.08Suggestive
septic shockOpen Targets
0.08Suggestive
pneumoconiosisOpen Targets
0.05Suggestive
respiratory system diseaseOpen Targets
0.05Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.05Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
nonimmune chronic idiopathic neutropenia of adultsOpen Targets
0.04Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.04Suggestive
chronic myeloproliferative disorderOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
ACPA-positive rheumatoid arthritisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBA1Protein interaction100%UBA52Protein interaction100%RNF40Protein interaction84%RNF20Protein interaction84%UBA7Protein interaction79%UBE2V1Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
15%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
UBE2UUBA1UBA52RNF40RNF20UBA7UBE2V1
PROTEIN STRUCTURE
Preparing viewer…
PDB1YRV · 2.18 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.52–1.32]
RankingsWhere UBE2U stands among ~20K protein-coding genes
  • #14,590of 20,598
    Most Researched19
  • #13,869of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedUBE2U
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Genome-wide association study of fasting proinsulin, fasting insulin, 2-hour postprandial proinsulin, and 2-hour postprandial insulin in Chinese Han people.
PMID: 35971929
Endokrynol Pol · 2022
1.00
2
Development of DNA methylation markers for sperm, saliva and blood identification using pyrosequencing and qPCR/HRM.
PMID: 32891597
Anal Biochem · 2020
0.75
3
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
PMID: 33776059
Eur J Hum Genet · 2021
0.50
4
An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.
PMID: 27903633
J Biol Chem · 2017
0.25