JAM2 Gene - Junctional Adhesion Molecule 2
A key regulator of endothelial cell junctions and leukocyte transmigration
Gene Information Card
| Symbol | JAM2 |
|---|---|
| Full Name | junctional adhesion molecule 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q21.3 |
| NCBI Gene ID | 58494 ncbi.nlm.nih.gov/gene/58494 |
| Ensembl ID | ENSG00000154721 |
| UniProt ID | P57087 |
| OMIM ID | 606870 |
| HGNC ID | 14686 |
| Aliases | VE-JAM, JAM-B, C21orf43, PRO245 |
Description
JAM2 (junctional adhesion molecule 2) encodes a transmembrane protein belonging to the immunoglobulin superfamily. It localizes to tight junctions of endothelial cells and acts as a ligand for integrins, mediating leukocyte adhesion and transmigration. JAM2 is also involved in angiogenesis and vascular permeability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | Loss-of-function mutations in JAM2 disrupt blood-brain barrier integrity | PMID: 30528824 |
| Primary familial brain calcification | JAM2 variants impair cell-cell adhesion in brain microvessels | PMID: 30528824 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Kidney | 6.3 | Low |
| Brain | 4.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.3 | Endothelial cell line |
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475C>T (p.Arg159*) | Nonsense | Rare | Loss of function |
| c.689G>A (p.Arg230Gln) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • cell-cell junction (GO:0005911) |
| • plasma membrane (GO:0005886) | • integrin binding (GO:0005178) |
| • cell adhesion molecule binding (GO:0050839) |
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Leukocyte transendothelial migration - KEGG hsa04670
Protein Summary
JAM2 is a 298-amino acid type I transmembrane glycoprotein with two extracellular Ig-like domains. It forms homodimers and heterodimers with JAM3, localizing to tight junctions. The protein interacts with integrins α4β1 and αLβ2, facilitating leukocyte diapedesis. JAM2 is essential for maintaining endothelial barrier function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAM2 Knockout HEK293 Cell Line | EDJ-KQ1356 | Human | 58494 | Details Get a Quote |
| JAM2 Knockout HeLa Cell Line | EDJ-KQ56939 | Human | 58494 | Details Get a Quote |
| JAM2 Knockout A-549 Cell Line | EDJ-KQ65445 | Human | 58494 | Details Get a Quote |
| JAM2 Knockout HCT 116 Cell Line | EDJ-KQ73883 | Human | 58494 | Details Get a Quote |
