JAG2 Gene - Jagged Canonical Notch Ligand 2
Key regulator of Notch signaling in development and disease
Gene Information Card
| Symbol | JAG2 |
|---|---|
| Full Name | Jagged canonical Notch ligand 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 3714 ncbi.nlm.nih.gov/gene/3714 |
| Ensembl ID | ENSG00000184916 |
| UniProt ID | Q9Y219 |
| OMIM ID | 602570 |
| HGNC ID | 6189 |
| Aliases | HJ2, Jagged-2, SER2 |
Description
JAG2 (Jagged canonical Notch ligand 2) encodes a transmembrane ligand for Notch receptors, playing a critical role in cell-cell signaling during embryonic development, tissue homeostasis, and immune regulation. It is involved in somitogenesis, limb development, and hematopoiesis. Aberrant JAG2 expression and mutations are linked to cancers, skeletal disorders, and Alagille syndrome-like phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alagille syndrome (rare) | Loss-of-function mutations in JAG2 impair Notch signaling, disrupting bile duct and heart development | OMIM #602570; PMID: 30554721 |
| Scoliosis (congenital) | JAG2 variants affect somitogenesis and vertebral segmentation | PMID: 31073057 |
| Breast cancer | Overexpression of JAG2 activates Notch signaling, promoting tumor growth and metastasis | PMID: 25605247 |
| Lung adenocarcinoma | JAG2 upregulation correlates with poor prognosis and epithelial-mesenchymal transition | PMID: 30348673 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Placenta | 15.1 | Medium |
| Skeletal muscle | 6.7 | Low |
| Kidney | 9.8 | Low |
| Liver | 4.2 | Not detected |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.4 | High expression |
| MCF7 (breast cancer) | 22.1 | Overexpressed |
| A549 (lung cancer) | 14.7 | Moderate |
| K562 (leukemia) | 5.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2122C>T (p.Arg708Trp) | Missense | Rare | Loss of function; associated with Alagille syndrome |
| c.1234G>A (p.Gly412Ser) | Missense | Rare | Likely pathogenic; congenital scoliosis |
| c.345_346insA | Frameshift | Rare | Loss of function; predicted null allele |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations (e.g., p.Arg708Trp) reduce ligand-receptor binding, impairing Notch signaling.
Gain of Function (GOF)
Not well documented; overexpression in cancers may mimic gain-of-function.
Dominant Negative (DN)
Truncated JAG2 isoforms can interfere with wild-type ligand function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • Notch binding (GO:0005112) | • Notch signaling pathway (GO:0007219) |
| • plasma membrane (GO:0005886) | • cell differentiation (GO:0030154) |
| • animal organ morphogenesis (GO:0009887) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Signaling by Notch (Reactome: R-HSA-157118)
Protein Summary
JAG2 encodes Jagged-2, a 1238-amino acid transmembrane protein with a DSL (Delta/Serrate/Lag-2) domain and EGF-like repeats. It binds Notch receptors (Notch1-4) to initiate proteolytic cleavage and nuclear translocation of the Notch intracellular domain (NICD), regulating gene expression. Jagged-2 is essential for embryonic development, particularly in somitogenesis and cardiovascular formation. Post-translational modifications include glycosylation and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAG2 Knockout HEK293 Cell Line | EDJ-KQ428 | Human | 3714 | Details Get a Quote |
| JAG2 Knockout A-549 Cell Line | EDJ-KQ18714 | Human | 3714 | Details Get a Quote |
| JAG2 Knockout HCT 116 Cell Line | EDJ-KQ18715 | Human | 3714 | Details Get a Quote |
| JAG2 Knockout HeLa Cell Line | EDJ-KQ18716 | Human | 3714 | Details Get a Quote |
