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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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JOSD2
Josephin domain containing 2
Chromosome 19 · 19q13.33
NCBI Gene: 126119Ensembl: ENSG00000161677.13HGNC: HGNC:28853UniProt: Q7Z7N5
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein deubiquitinationprotein bindingcysteine-type deubiquitinase activitycytosolneurodegenerative diseasenon-small cell lung carcinomaneoplasmcolorectal carcinoma
✦AI Summary

JOSD2 is a cysteine-type deubiquitinase that cleaves Lys-63- and Lys-48-linked polyubiquitin chains to stabilize substrate proteins 1. As a deubiquitinating enzyme, JOSD2 maintains protein homeostasis through substrate deubiquitination and stabilization. In cardiovascular disease, JOSD2 exerts protective effects by stabilizing SERCA2a in cardiomyocytes, improving calcium handling and attenuating angiotensin II-induced cardiac hypertrophy 1. Similarly, JOSD2 stabilizes SMAD7 in vascular smooth muscle cells, inhibiting angiotensin II-induced vascular remodeling via the TGFβ-SMAD pathway 2. In acute kidney injury, JOSD2 deubiquitinates SIRT7 to reduce inflammatory responses and renal tubular injury 3. Conversely, JOSD2 promotes multiple malignancies through substrate stabilization: it stabilizes YAP/TAZ in cholangiocarcinoma 4, KRAS mutants in colorectal cancer via a positive feedback circuit 5, SMAD4 in breast cancer metastasis 6, and inhibits LKB1 tumor suppressor activity in lung cancer 7. Additionally, excessive JOSD2-mediated deubiquitination of NLRP3-R779C variant enhances inflammasome activation, contributing to very-early-onset inflammatory bowel disease 8. These findings establish JOSD2 as a context-dependent regulator with therapeutic potential as a target in cancer and inflammatory conditions, or as a therapeutic agent in cardiovascular disease.

Sources cited
1
JOSD2 deubiquitinates and stabilizes SERCA2a, improving calcium handling and attenuating cardiac hypertrophy
PMID: 39195964
2
JOSD2 stabilizes YAP/TAZ through deubiquitination to promote cholangiocarcinoma progression
PMID: 35024322
3
JOSD2 mediates excessive deubiquitination of NLRP3-R779C variant, promoting inflammasome activation in very-early-onset inflammatory bowel disease
PMID: 32941940
4
JOSD2 stabilizes KRAS mutants across different variants through deubiquitination, forming a positive feedback circuit that promotes colorectal cancer growth
PMID: 40240366
5
JOSD2 deubiquitinates and stabilizes SMAD7, inhibiting angiotensin II-induced vascular remodeling via the TGFβ-SMAD pathway
PMID: 39833306
6
JOSD2 deubiquitinates SIRT7 to reduce inflammation and renal tubular injury in acute kidney injury
PMID: 40217118
7
JOSD2 stabilizes SMAD4 through deubiquitination to promote breast cancer metastasis via TGF-β signaling
PMID: 39793716
8
JOSD2 inhibits LKB1 tumor suppressor activity by removing K6-linked polyubiquitination, promoting non-small cell lung cancer growth
PMID: 38177135
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cholangiocarcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
colitisOpen Targets
0.07Suggestive
Increased blood pressureOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.04Suggestive
cancerOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
cardiac hypertrophyOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
acute kidney injuryOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
hypoparathyroidism-retardation-dysmorphism syndromeOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP11Shared pathway100%JOSD1Shared pathway100%OTULINLShared pathway100%USP31Shared pathway100%USP17L23Shared pathway100%USP54Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
72%
Lung
72%
Brain
30%
Bone Marrow
27%
Heart
22%
Gene Interaction Network
Click a node to explore
JOSD2USP11JOSD1OTULINLUSP31USP17L23USP54
PROTEIN STRUCTURE
Preparing viewer…
PDB6PGV · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.74–1.52]
RankingsWhere JOSD2 stands among ~20K protein-coding genes
  • #10,800of 20,598
    Most Researched36
  • #15,280of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedJOSD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deubiquitinase JOSD2 improves calcium handling and attenuates cardiac hypertrophy and dysfunction by stabilizing SERCA2a in cardiomyocytes.
PMID: 39195964
Nat Cardiovasc Res · 2023
1.00
2
Deubiquitinase JOSD2 stabilizes YAP/TAZ to promote cholangiocarcinoma progression.
PMID: 35024322
Acta Pharm Sin B · 2021
0.90
3
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development.
PMID: 32941940
J Allergy Clin Immunol · 2021
0.80
4
Josephin Domain Containing 2 (JOSD2) inhibition as Pan-KRAS-mutation-targeting strategy for colorectal cancer.
PMID: 40240366
Nat Commun · 2025
0.70
5
JOSD2 inhibits angiotensin II-induced vascular remodeling by deubiquitinating and stabilizing SMAD7.
PMID: 39833306
Acta Pharmacol Sin · 2025
0.60