JAM-C

The Ig-like V-type domain mediates interaction with JAM2.

Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity).

Soluble form of JAM-C

Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.

Hemorrhagic destruction of the brain with subependymal calcification and cataracts

HDBSCC

A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue.

None

The disease is caused by variants affecting the gene represented in this entry.

Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by pro-inflammatory factors.

S-palmitoylated by ZDHHC7. S-palmitoylation promotes expression at tight junctions.

Belongs to the immunoglobulin superfamily.

Detected on round and elongated spermatids (at protein level) (PubMed:15372036). Highest expression in placenta, brain and kidney. Significant expression is detected on platelets. Expressed in intestinal mucosa cells. Expressed in the vascular endothelium. Found in serum (at protein level). Also detected in the synovial fluid of patients with rheumatoid arthritis, psoriatic arthritis or ostearthritis (at protein level).

• Cell membrane
• Single-pass type I membrane protein
• Cell junction
• Cell junction
• Desmosome
• Cell junction
• Tight junction
• Detected in the acrosome region in developing spermatids (By similarity). In epithelial cells, it is expressed at desmosomes but not at tight junctions (PubMed:15194813). Localizes at the cell surface of endothelial cells; treatment of endothelial cells with vascular endothelial growth factor stimulates recruitment of JAM3 to cell-cell contacts (PubMed:15994945).
• Soluble form of JAM-C
• Secreted

UNQ859/PRO1868, JAM3, Junctional adhesion molecule C, JAM-C, JAM-2, Junctional adhesion molecule 3, JAM-3, JAMC

• entrezGene:83700
• omim:606871
• swissprot:Q9BX67

Proteins

Epigenetics

35020Da