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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DESI2
desumoylating isopeptidase 2
Chromosome 1 · 1q44
NCBI Gene: 51029Ensembl: ENSG00000121644.20HGNC: HGNC:24264UniProt: Q9BSY9
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityprotein bindinglong-chain fatty acyl-CoA hydrolase activityK63-linked deubiquitinase activitybrain diseaseresponse to antihypertensive drugcancerrespiratory tract infectious disorder
✦AI Summary

DESI2 (desumoylating isopeptidase 2) functions as a dual-specificity enzyme with both deubiquitinating and desumoylating activities. The protein exhibits deubiquitinating activity toward K48- and K63-linked polyubiquitin chains, notably stabilizing ribosomal protein RPS7 through K48-linked deubiquitination 1. DESI2 also demonstrates palmitoyl protein thioesterase activity [UniProt]. Mechanistically, DESI2 acts as a tumor suppressor by regulating the PI3K/AKT/mTOR signaling pathway - overexpression inhibits cell proliferation and promotes apoptosis, while silencing has opposite effects 2. In pancreatic cancer, DESI2 expression is significantly decreased, correlating with increased phosphorylation of AKT/mTOR pathway components 3. Additionally, DESI2 functions in hematopoietic malignancies by binding to and stabilizing JAK2-V617F through desumoylation and deubiquitination at lysine 962 4. Disease relevance includes roles in multiple cancers - reduced expression in pancreatic ductal adenocarcinoma correlates with poor differentiation 3, and it serves as a target of miR-132 in pancreatic islets affecting insulin secretion 5. Clinically, DESI2 represents a potential therapeutic target, with combination gene therapy showing enhanced antitumor efficacy 1, and selective DESI2 inhibitors demonstrating promise against JAK2-mutant leukemias 4.

Sources cited
1
DESI2 stabilizes RPS7 through K48-linked deubiquitination and shows antitumor effects in combination gene therapy
PMID: 30055135
2
DESI2 regulates cell proliferation and apoptosis through PI3K/AKT/mTOR signaling pathway in pancreatic cancer
PMID: 30411297
3
DESI2 expression is decreased in pancreatic ductal adenocarcinoma with increased AKT/mTOR pathway phosphorylation
PMID: 25079376
4
DESI2 binds to and stabilizes JAK2-V617F through desumoylation and deubiquitination at lysine 962
PMID: 41332324
5
DESI2 is a target of miR-132 regulation in pancreatic islets affecting insulin secretion
PMID: 30672723
Disease Associationsⓘ20
brain diseaseOpen Targets
0.27Weak
response to antihypertensive drugOpen Targets
0.27Weak
cancerOpen Targets
0.08Suggestive
respiratory tract infectious disorderOpen Targets
0.06Suggestive
complex regional pain syndromeOpen Targets
0.06Suggestive
malignant renal pelvis neoplasmOpen Targets
0.05Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.04Suggestive
pneumonitisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.02Suggestive
male reproductive organ cancerOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
carcinomaOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABHD13Shared pathway100%USPL1Protein interaction78%PPT2Shared pathway50%LYPLAL1Shared pathway33%LYPLA2Shared pathway33%DESI1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Lung
95%
Bone Marrow
77%
Brain
75%
Ovary
51%
Liver
49%
Gene Interaction Network
Click a node to explore
DESI2ABHD13USPL1PPT2LYPLAL1LYPLA2DESI1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BSY9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.59Intermediate
Observed/Expected LoF0.31 [0.14–0.81]
RankingsWhere DESI2 stands among ~20K protein-coding genes
  • #13,643of 20,598
    Most Researched22
  • #6,825of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedDESI2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Combination of DESI2 and endostatin gene therapy significantly improves antitumor efficacy by accumulating DNA lesions, inducing apoptosis and inhibiting angiogenesis.
PMID: 30055135
Exp Cell Res · 2018
1.00
2
Targeting DESI2 as a Novel Therapeutic Strategy for JAK2-Mutant Leukemias.
PMID: 41332324
Adv Sci (Weinh) · 2026
0.90
3
High Phosphorylation Status of AKT/mTOR Signal in DESI2-Reduced Pancreatic Ductal Adenocarcinoma.
PMID: 25079376
Pathol Oncol Res · 2015
0.80
4
In Vivo Silencing of MicroRNA-132 Reduces Blood Glucose and Improves Insulin Secretion.
PMID: 30672723
Nucleic Acid Ther · 2019
0.70
5
Desumoylating Isopeptidase 2 (DESI2) Inhibits Proliferation and Promotes Apoptosis of Pancreatic Cancer Cells through Regulating PI3K/AKT/mTOR Signaling Pathway.
PMID: 30411297
Pathol Oncol Res · 2019
0.60