JAML (Junction Adhesion Molecule Like)
Gene encoding a cell adhesion molecule involved in immune cell migration and epithelial integrity
Gene Information Card
| Symbol | JAML |
|---|---|
| Full Name | Junction Adhesion Molecule Like |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 120425 ncbi.nlm.nih.gov/gene/120425 |
| Ensembl ID | ENSG00000167900 |
| UniProt ID | Q86YT9 |
| OMIM ID | 609708 |
| HGNC ID | 28926 |
| Aliases | AMICA1, CREA7, Gm638 |
Description
JAML (Junction Adhesion Molecule Like) encodes a transmembrane glycoprotein of the immunoglobulin superfamily. It functions as a cell adhesion molecule, mediating homophilic and heterophilic interactions. JAML is expressed on epithelial cells and leukocytes, playing a role in immune cell migration, epithelial barrier maintenance, and wound healing. It interacts with the coxsackievirus and adenovirus receptor (CXADR) to regulate tight junction dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | Altered JAML expression may disrupt epithelial barrier and immune cell trafficking | PMID: 25687213 |
| Colorectal cancer | JAML overexpression associated with tumor progression and poor prognosis | PMID: 29719267 |
| Adenovirus infection | JAML serves as a receptor for adenovirus entry into epithelial cells | PMID: 18369463 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Small intestine | 10.8 | Medium |
| Colon | 9.2 | Medium |
| Kidney | 7.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | High expression |
| Caco-2 (colorectal adenocarcinoma) | 12.1 | High expression |
| HEK 293 (embryonic kidney) | 8.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect |
| c.1024G>A (p.Gly342Ser) | Missense | <0.01% | Unknown functional effect |
| c.1356_1357insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1356_1357insA) likely result in truncated protein and loss of adhesion function.
Gain of Function (GOF)
No gain-of-function mutations reported in JAML.
Dominant Negative (DN)
No dominant-negative mutations described for JAML.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) | • integral component of membrane (GO:0016021) |
| • cell-cell junction (GO:0005911) |
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Tight junction - KEGG hsa04530
• Leukocyte transendothelial migration - KEGG hsa04670
Protein Summary
JAML is a 389-amino acid transmembrane protein with an extracellular region containing two immunoglobulin-like domains, a single transmembrane helix, and a short cytoplasmic tail. It localizes to cell-cell junctions and mediates homophilic adhesion. The protein interacts with CXADR to regulate tight junction assembly and immune cell diapedesis. JAML is glycosylated and expressed on epithelial cells and subsets of leukocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAML Knockout HEK293 Cell Line | EDJ-KQ1079 | Human | 120425 | Details Get a Quote |
| JAML Knockout HeLa Cell Line | EDJ-KQ58065 | Human | 120425 | Details Get a Quote |
| JAML Knockout A-549 Cell Line | EDJ-KQ66553 | Human | 120425 | Details Get a Quote |
| JAML Knockout HCT 116 Cell Line | EDJ-KQ74969 | Human | 120425 | Details Get a Quote |
