CADM2
Chr 3cell adhesion molecule 2
Also known as: IGSF4D, NECL3, Necl-3, SynCAM 2, SynCAM-2, synCAM2
The encoded protein is a synaptic cell adhesion molecule with three immunoglobulin-like domains that engages in homo- and heterophilic interactions to promote cell aggregation and synapse organization, with preferential binding to oligodendrocytes. Mutations cause autosomal recessive developmental and epileptic encephalopathy, typically presenting in infancy with seizures and developmental delays. This gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
87 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 | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 34 | 23 | 0 | 57 |
Likely Benign | 0 | 0 | 4 | 0 | 4 |
Benign | 0 | 0 | 5 | 3 | 8 |
| Total | 0 | 34 | 41 | 3 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CADM2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools