JAM2 Chromosome 21
Junctional adhesion molecule 2
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What This Gene Does
This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"CD molecules|V-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
21q21.3
Ensembl
ENSG00000154721
Associated Conditions (5)
Basal ganglia calcification
idiopathic
8
autosomal recessive
JAM2-related disorder
Key Variants
RS1230941179
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS1383641309
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS1600978441
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS1601038626
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS1601038704
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS751103286
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
RS781261918
Pathogenic
Basal ganglia calcification, idiopathic, 8
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1230941179 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS1383641309 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS1600978441 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS1601038626 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS1601038704 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS751103286 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |
| RS781261918 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 8 |