Junctional Adhesion Molecule 2/JAM-B

The Ig-like V-type domain is necessary and sufficient to mediate interaction with JAM3 and integrin alpha-4/beta-1.

Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM3 to regulate different cellular processes (PubMed:11590146, PubMed:11823489, PubMed:24357068). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow (PubMed:24357068). 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 not only transmigration but also tethering and rolling of leukocytes along the endothelium (PubMed:12239159). Tethering and rolling of leukocytes are dependent on the binding by JAM2 of the integrin alpha-4/beta-1 (PubMed:12070135). 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 an inhibitory somatodendritic cue that prevents the myelination of non-axonal parts of neurons (By similarity). During myogenesis, it is involved in myocyte fusion (By similarity). May also play a role in angiogenesis (By similarity).

Basal ganglia calcification, idiopathic, 8, autosomal recessive

IBGC8

A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

None

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

Belongs to the immunoglobulin superfamily.

Highly expressed in heart, placenta, lung, foreskin and lymph node (PubMed:10779521, PubMed:10945976). Prominently expressed on high endothelial venules and also present on the endothelia of other vessels (at protein level) (PubMed:10779521, PubMed:10945976). Also expressed in the brain in the caudate nuclei (PubMed:31851307).

• Cell membrane
• Single-pass type I membrane protein
• Cell junction
• Cell junction
• Tight junction
• Localized at tight junctions of both epithelial and endothelial cells (By similarity). Specifically localized within the somatodendritic compartment of neurons and excluded from the axon (By similarity).

CD322, C21orf43, VEJAM, UNQ219/PRO245, JAM2, Junctional adhesion molecule B, JAM-B, Junctional adhesion molecule 2, Vascular endothelial junction-associated molecule, JAM-2, VE-JAM

• entrezGene:58494
• omim:606870
• swissprot:P57087

Proteins

Oncology

33207Da