JAM3 Chromosome 11
Junctional adhesion molecule 3
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What This Gene Does
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]
Gene Info
Gene Group
"V-set domain containing|Ig-like cell adhesion molecule family|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
11q25
Ensembl
ENSG00000166086
Associated Conditions (3)
JAM3-related disorder
Inborn genetic diseases
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Key Variants
RS138314437
Conflicting classifications of pathogenicity
JAM3-related disorder, Inborn genetic diseases, JAM3-related disorder
Health Risk
RS146383325
Conflicting classifications of pathogenicity
JAM3-related disorder, Porencephaly-microcephaly-bilateral congenital cataract syndrome, JAM3-related disorder
Health Risk
RS2120862502
Likely pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS2497284984
Likely pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS2497297743
Likely pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS397514678
Likely pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS141004644
Pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS1942959311
Pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS2497294789
Pathogenic
Health Risk
RS397515438
Pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS397515439
Pathogenic
Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
Health Risk
RS750102309
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138314437 | Health Risk | Conflicting classifications of pathogenicity | JAM3-related disorder, Inborn genetic diseases, JAM3-related disorder |
| RS146383325 | Health Risk | Conflicting classifications of pathogenicity | JAM3-related disorder, Porencephaly-microcephaly-bilateral congenital cataract syndrome, JAM3-related disorder |
| RS2120862502 | Health Risk | Likely pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS2497284984 | Health Risk | Likely pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS2497297743 | Health Risk | Likely pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS397514678 | Health Risk | Likely pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS141004644 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS1942959311 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS2497294789 | Health Risk | Pathogenic | — |
| RS397515438 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS397515439 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS750102309 | Health Risk | Pathogenic | — |
| RS761700427 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS763250381 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| RS774867496 | Health Risk | Pathogenic | Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome |