JAM3
Chr 11ARjunctional adhesion molecule 3
Also known as: JAM-2, JAM-3, JAM-C, JAMC
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.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
340 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 6 | 4 | 83 | 0 | 93 |
Likely Pathogenic | 0 | 2 | 10 | 0 | 12 |
VUS | 1 | 85 | 22 | 1 | 109 |
Likely Benign | 0 | 4 | 49 | 32 | 85 |
Benign | 0 | 1 | 33 | 2 | 36 |
Conflicting | — | 2 | |||
| Total | 7 | 96 | 197 | 35 | 337 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
JAM3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools