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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDI2
DDI proteasomal shuttling factor 2
Chromosome 1 · 1p36.21
NCBI Gene: 84301Ensembl: ENSG00000197312.13HGNC: HGNC:24578UniProt: Q5TDH0
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aspartic-type endopeptidase activityprotein bindingidentical protein bindingubiquitin bindingdiabetes mellitustype 2 diabetes mellitusMiyoshi myopathyliver cancer
✦AI Summary

DDI2 encodes an aspartic protease with dual roles in protein quality control and DNA damage response. Its primary function involves cleaving NFE2L1/NRF1, a transcription factor that regulates proteasome subunit expression. DDI2 mediates cleavage of ubiquitinated NFE2L1 at Leu-104, promoting its release from the endoplasmic reticulum membrane and subsequent activation of proteasome gene transcription 12. This pathway is critical for cellular adaptation to proteasome inhibition and oxidative stress 3. DDI2 also functions in DNA replication stress responses, working with DDI1 to remove RTF2 from stalled replication forks and maintain genome integrity 4. The protease activity requires extensive ubiquitination of NFE2L1, with UBE4A serving as a key E3 ligase that primes NFE2L1 for DDI2-mediated processing 5. Clinically, DDI2 shows oncogenic properties in colorectal cancer, promoting metastasis and drug resistance 6, while DDI2 deficiency suppresses liver cancer progression by increasing oxidative stress 7. The HIV protease inhibitor nelfinavir can inhibit DDI2 activity, potentially sensitizing cancer cells to proteasome inhibitors and ferroptosis 23. These findings position DDI2 as a potential therapeutic target for cancer treatment strategies.

Sources cited
1
DDI2 cleaves ubiquitinated NFE2L1 at Leu-104 to promote its release from ER membrane
PMID: 27528193
2
DDI2-mediated NFE2L1 cleavage induces proteasome synthesis and can be inhibited by nelfinavir
PMID: 32916277
3
DDI2 protects from ferroptosis through NFE2L1-ubiquitin-proteasome system activation
PMID: 39384955
4
DDI2 works with DDI1 to remove RTF2 from stalled replication forks
PMID: 29290612
5
UBE4A ubiquitinates NRF1 to facilitate DDI2-mediated cleavage
PMID: 37084817
6
DDI2 promotes colorectal cancer metastasis and drug resistance
PMID: 36520320
7
DDI2 deficiency suppresses liver cancer by increasing oxidative stress
PMID: 40049338
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
liver cancerOpen Targets
0.03Suggestive
coronary atherosclerosisOpen Targets
0.03Suggestive
insomniaOpen Targets
0.02Suggestive
coronary artery diseaseOpen Targets
0.02Suggestive
multiple myelomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
fetal growth restrictionOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
Neoplasm of the liverOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBBProtein interaction100%UBCProtein interaction100%PSMD2Protein interaction100%PSMD14Protein interaction99%RSC1A1Protein interaction92%RAD23AProtein interaction88%
Tissue Expression6 tissues
Liver
100%
Lung
49%
Bone Marrow
48%
Brain
38%
Heart
36%
Ovary
31%
Gene Interaction Network
Click a node to explore
DDI2UBBUBCPSMD2PSMD14RSC1A1RAD23A
PROTEIN STRUCTURE
Preparing viewer…
PDB4RGH · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.22]
RankingsWhere DDI2 stands among ~20K protein-coding genes
  • #9,063of 20,598
    Most Researched48
  • #589of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedDDI2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sugar-mediated non-canonical ubiquitination impairs Nrf1/NFE2L1 activation.
PMID: 39116872
Mol Cell · 2024
1.00
2
Activating the NFE2L1-ubiquitin-proteasome system by DDI2 protects from ferroptosis.
PMID: 39384955
Cell Death Differ · 2025
0.90
3
Nelfinavir inhibits human DDI2 and potentiates cytotoxicity of proteasome inhibitors.
PMID: 32916277
Cell Signal · 2020
0.80
4
DDI2 promotes tumor metastasis and resists antineoplastic drugs-induced apoptosis in colorectal cancer.
PMID: 36520320
Apoptosis · 2023
0.70
5
UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage.
PMID: 37084817
Biochim Biophys Acta Gene Regul Mech · 2023
0.60