F11R (F11 Receptor) Gene
Junctional Adhesion Molecule A (JAM-A) - Cell Adhesion and Tight Junction Protein
Gene Information Card
| Symbol | F11R |
|---|---|
| Full Name | F11 receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 50848 ncbi.nlm.nih.gov/gene/50848 |
| Ensembl ID | ENSG00000160991 |
| UniProt ID | Q9Y624 |
| OMIM ID | 605721 |
| HGNC ID | 14685 |
| Aliases | JAM-A, JAM1, JCAM, CD321, PAM-1 |
Description
The F11R gene encodes the junctional adhesion molecule A (JAM-A), a transmembrane glycoprotein belonging to the immunoglobulin superfamily. JAM-A is a component of tight junctions in epithelial and endothelial cells, mediating cell-cell adhesion, regulating paracellular permeability, and participating in leukocyte transmigration, platelet activation, and angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | JAM-A mediates monocyte adhesion and transmigration across endothelium, promoting plaque formation. | NCBI Gene, OMIM |
| Inflammatory bowel disease | Altered JAM-A expression disrupts intestinal epithelial barrier, increasing permeability and inflammation. | NCBI Gene, OMIM |
| Cancer metastasis | Loss of JAM-A expression in epithelial tumors correlates with increased invasiveness and metastasis. | COSMIC, NCBI Gene |
| Bleeding disorders | F11R mutations impair platelet aggregation and adhesion, contributing to hemorrhagic tendencies. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 38.2 | High |
| Small intestine | 35.1 | High |
| Colon | 32.8 | High |
| Kidney | 28.5 | High |
| Liver | 18.3 | Medium |
| Heart | 15.6 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 42.5 | High expression; key for barrier function |
| Caco-2 (intestinal epithelial) | 38.1 | High expression; tight junction model |
| A549 (lung epithelial) | 30.4 | High expression |
| MCF7 (breast cancer) | 12.3 | Moderate expression; reduced in metastatic lines |
| K562 (leukemia) | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.532G>A (p.Gly178Arg) | Missense | <0.01% | Impaired JAM-A dimerization and adhesion |
| c.764C>T (p.Pro255Leu) | Missense | <0.01% | Reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.1120_1121insA | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish JAM-A expression or adhesion function, associated with bleeding disorders and increased epithelial permeability.
Gain of Function (GOF)
Not reported for F11R.
Dominant Negative (DN)
Not reported for F11R.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Tight junction interactions (Reactome: R-HSA-420029)
• Leukocyte transendothelial migration (KEGG: hsa04670)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
JAM-A (F11R) is a 299-amino acid type I transmembrane protein with two extracellular immunoglobulin-like domains, a single transmembrane helix, and a short cytoplasmic tail containing a PDZ-binding motif. It forms homodimers in cis and trans, localizes to tight junctions, and interacts with scaffolding proteins such as ZO-1, afadin, and PAR-3. JAM-A also binds integrins (e.g., LFA-1, αvβ3) to mediate leukocyte adhesion and platelet aggregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| F11r Knockout MB49 Cell Line | EDJ-KQ54 | Mouse | 16456 | Details Get a Quote |
| F11R Knockout HEK293 Cell Line | EDJ-KQ10831 | Human | 50848 | Details Get a Quote |
| F11R Knockout A-549 Cell Line | EDJ-KQ38480 | Human | 50848 | Details Get a Quote |
| F11R Knockout HCT 116 Cell Line | EDJ-KQ38481 | Human | 50848 | Details Get a Quote |
| F11R Knockout HeLa Cell Line | EDJ-KQ38482 | Human | 50848 | Details Get a Quote |
