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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SUMO4
small ubiquitin like modifier 4
Chromosome 6 · 6q25.1
NCBI Gene: 387082Ensembl: ENSG00000177688.7HGNC: HGNC:21181UniProt: Q6EEV6
78PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnuclear bodySUMO ligase complexcellular response to oxidative stressDupuytren ContracturePalmar Fibromatosislumbar disc herniationAbnormality of the skeletal system
✦AI Summary

SUMO4 is a small ubiquitin-like modifier protein involved in post-translational modification through covalent conjugation to target proteins 1. As a non-conjugating SUMO isoform, SUMO4 functions distinctly by potentiating SENP1 deconjugation activity to regulate DNA-damage-induced SUMOylation and prevent excessive RAP80 accumulation during double-strand break repair 2. SUMO4 participates in cellular responses to oxidative stress and modulates protein localization, stability, and transcriptional activity by regulating factors including NF-κB signaling components 1. Clinically, SUMO4 is primarily associated with type 1 diabetes susceptibility, with the M55V polymorphism showing consistent genetic association in Asian populations and variable association in Caucasian populations 345. The same polymorphism also associates with type 2 diabetes susceptibility, particularly in Chinese populations 67. Additionally, SUMO4 variants are implicated in uveitis pathogenesis as a candidate inflammatory disease gene 8. The mechanistic basis for SUMO4's role in diabetes likely involves modulation of autoimmune responses and immune regulation through its effects on transcriptional control and protein signaling pathways.

Sources cited
1
SUMO4 is one of four SUMO isoforms involved in DNA damage repair, immune responses, carcinogenesis, and gene expression regulation
PMID: 29484374
2
SUMO4 promotes SUMO deconjugation by potentiating SENP1 activity and is required for proper DNA double-strand break repair
PMID: 40054443
3
SUMO4 is a susceptibility gene for type 1 diabetes with consistent association in Asian populations and heterogeneous association in Caucasian populations
PMID: 17130563
4
SUMO4 M55V polymorphism associates with type 1 diabetes in both Asian and Caucasian populations and with type 2 diabetes in Asian populations
PMID: 22936652
5
SUMO4 is located in the IDDM5 interval on chromosome 6q25 and contributes to type 1 diabetes pathogenesis
PMID: 17990297
6
SUMO4 M55V polymorphism associates with type 2 diabetes susceptibility, particularly in Chinese populations
PMID: 28494838
7
SUMO4 M55V polymorphism shows significant association with type 2 diabetes in Turkish patients
PMID: 25189908
8
SUMO4 is identified as a candidate gene associated with uveitis, a vision-threatening inflammatory disease
PMID: 31669406
Disease Associationsⓘ21
Dupuytren ContractureOpen Targets
0.33Weak
Palmar FibromatosisOpen Targets
0.20Weak
lumbar disc herniationOpen Targets
0.17Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
coronary atherosclerosisOpen Targets
0.15Weak
coronary artery diseaseOpen Targets
0.10Suggestive
fasciitisOpen Targets
0.10Suggestive
type 2 diabetes mellitusOpen Targets
0.09Suggestive
KeloidOpen Targets
0.08Suggestive
amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
heart diseaseOpen Targets
0.06Suggestive
myocardial infarctionOpen Targets
0.06Suggestive
type 1 diabetes mellitusOpen Targets
0.05Suggestive
acute tonsillitisOpen Targets
0.05Suggestive
endometriosisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
Behcet's syndromeOpen Targets
0.03Suggestive
Type 1 diabetes mellitus 5UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCNAProtein interaction100%EID3Protein interaction100%RAD51Protein interaction99%RAD52Protein interaction98%PRKCZProtein interaction97%RANBP2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
94%
Ovary
63%
Lung
57%
Brain
16%
Heart
3%
Gene Interaction Network
Click a node to explore
SUMO4PCNAEID3RAD51RAD52PRKCZRANBP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6EEV6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.69 [0.31–1.64]
RankingsWhere SUMO4 stands among ~20K protein-coding genes
  • #6,112of 20,598
    Most Researched78
  • #15,842of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedSUMO4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The post-translational modification, SUMOylation, and cancer (Review).
PMID: 29484374
Int J Oncol · 2018
1.00
2
SUMO4 promotes SUMO deconjugation required for DNA double-strand-break repair.
PMID: 40054443
Mol Cell · 2025
0.90
3
Uveitis genetics.
PMID: 31669406
Exp Eye Res · 2020
0.80
4
Genetic and functional evidence supporting SUMO4 as a type 1 diabetes susceptibility gene.
PMID: 17130563
Ann N Y Acad Sci · 2006
0.70
5
Polymorphism M55V in gene encoding small ubiquitin-like modifier 4 (SUMO4) protein associates with susceptibility to type 1 (and type 2) diabetes.
PMID: 22936652
Diabetes Metab Res Rev · 2012
0.60