CADM2

Chr 3

cell adhesion molecule 2

Also known as: IGSF4D, NECL3, Necl-3, SynCAM 2, SynCAM-2, synCAM2

NCBI Gene: 253559 ENSG00000175161 UniProt: Q8N3J6

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

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