JAM3

Chr 11AR

junctional adhesion molecule 3

Also known as: JAM-2, JAM-3, JAM-C, JAMC

NCBI Gene: 83700 ENSG00000166086 UniProt: Q9BX67 OMIM: 606871

JAM3 encodes a junctional adhesion protein that localizes to tight junctions and mediates cell-to-cell interactions by serving as a receptor for JAM2, playing roles in hematopoietic stem cell retention, leukocyte migration, and angiogenesis. Mutations cause autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. The gene shows tolerance to loss-of-function variation (pLI 0.0006), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hemorrhagic destruction of the brain, subependymal calcification, and cataractsMIM #613730

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P