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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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JAG2
jagged canonical Notch ligand 2
Chromosome 14 Β· 14q32.33
NCBI Gene: 3714Ensembl: ENSG00000184916.10HGNC: HGNC:6189UniProt: Q9Y219
93PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Notch bindingprotein bindinggrowth factor activityspermatogenesismuscular dystrophy, limb-girdle, autosomal recessive 27cancermuscular dystrophyorofacial cleft 1
✦AI Summary

JAG2 (jagged canonical Notch ligand 2) functions as a crucial Notch pathway ligand that regulates cell differentiation, immune responses, and disease pathogenesis. JAG2 serves as a ligand for Notch receptors, activating downstream signaling cascades that control cellular fate decisions 1. In cancer contexts, JAG2 demonstrates dual roles depending on tumor type. In non-small cell lung cancer, JAG2 promotes immune evasion by suppressing anti-tumor T cell responses and maintaining immunosuppressive macrophage phenotypes 2. Similarly, in high-grade serous ovarian cancer, JAG2-positive tumor-associated neutrophils create an immunosuppressive microenvironment by promoting regulatory T cell differentiation through RBPJ-mediated Notch signaling activation 3. Conversely, in endometrial cancer, JAG2 appears to have tumor-suppressive functions, with significantly reduced protein levels observed in stage IB adenocarcinomas compared to healthy tissue 4. JAG2 also contributes to cancer stem cell maintenance, as demonstrated in hepatocellular carcinoma where CD146-mediated JAG2 upregulation enhances stemness and chemoresistance through Notch pathway activation 5. Clinically, JAG2 expression correlates with patient outcomes and represents a potential therapeutic target, with Notch inhibitors showing promise in overcoming immunotherapy resistance 32.

Sources cited
1
JAG2 functions as a Notch ligand activated by mechanical stretch in pulmonary arterial endothelial cells
PMID: 34669509
2
JAG2 deletion in lung cancer activates anti-tumor immunity and correlates with survival
PMID: 38636522
3
JAG2-positive neutrophils promote regulatory T cell differentiation and immunosuppression in ovarian cancer
PMID: 40120139
4
JAG2 protein levels are significantly reduced in endometrial adenocarcinoma suggesting tumor-suppressive role
PMID: 25060200
5
CD146-mediated JAG2 upregulation enhances cancer stem cell properties in hepatocellular carcinoma
PMID: 40032820
Disease Associationsβ“˜21
muscular dystrophy, limb-girdle, autosomal recessive 27Open Targets
0.77Strong
cancerOpen Targets
0.56Moderate
muscular dystrophyOpen Targets
0.37Weak
orofacial cleft 1Open Targets
0.35Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.31Weak
clonal hematopoiesisOpen Targets
0.31Weak
spinal stenosisOpen Targets
0.27Weak
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.18Weak
neoplasmOpen Targets
0.11Weak
Mobius syndromeOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
Syndactyly type 2Open Targets
0.07Suggestive
Split hand-split foot malformationOpen Targets
0.06Suggestive
syndactyly type 4Open Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
Muscular dystrophy, limb-girdle, autosomal recessive 27UniProt
Pathogenic Variants5
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)Likely pathogenic
not provided|Muscular dystrophy, limb-girdle, autosomal recessive 27
β˜…β˜…β˜†β˜†2026β†’ Residue 839
NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter)Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
β˜…β˜†β˜†β˜†2024β†’ Residue 104
NM_002226.5(JAG2):c.493C>T (p.Arg165Ter)Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
β˜…β˜†β˜†β˜†2022β†’ Residue 165
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
β˜…β˜†β˜†β˜†2022β†’ Residue 281
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
β˜…β˜†β˜†β˜†2022β†’ Residue 407
View on ClinVar β†—
Related Genes
NOTCH4Protein interaction100%NOTCH2Protein interaction100%NOTCH1Protein interaction100%CDK9Protein interaction100%CTR9Protein interaction96%RBPJProtein interaction95%
Tissue Expression6 tissues
Heart
100%
Lung
83%
Brain
49%
Ovary
29%
Liver
25%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
JAG2NOTCH4NOTCH2NOTCH1CDK9CTR9RBPJ
PROTEIN STRUCTURE
Preparing viewer…
PDB5MW5 Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.91Intolerant
Observed/Expected LoF0.39 [0.30–0.49]
RankingsWhere JAG2 stands among ~20K protein-coding genes
  • #5,148of 20,598
    Most Researched93 Β· top quartile
  • #3,530of 5,498
    Most Pathogenic Variants5
  • #2,937of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedJAG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Epigenomic landscape and 3D genome structure in pediatric high-grade glioma.
PMID: 34078608
Sci Adv Β· 2021
1.00
2
Endothelial upregulation of mechanosensitive channel Piezo1 in pulmonary hypertension.
PMID: 34669509
Am J Physiol Cell Physiol Β· 2021
0.90
3
Jagged2 targeting in lung cancer activates anti-tumor immunity via Notch-induced functional reprogramming of tumor-associated macrophages.
PMID: 38636522
Immunity Β· 2024
0.80
4
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol Β· 2022
0.70
5
Immunosuppressive JAG2
PMID: 40120139
Cancer Commun (Lond) Β· 2025
0.60