CADM3

Chr 1

cell adhesion molecule 3

Also known as: BIgR, CMT2FF, IGSF4B, NECL1, Necl-1, TSLL1, synCAM3

NCBI Gene: 57863 ENSG00000162706 UniProt: Q8N126

CADM3 encodes a calcium-independent cell adhesion molecule that mediates cell-cell adhesion through homophilic and heterophilic interactions with other nectin proteins. Mutations cause autosomal dominant Charcot-Marie-Tooth disease, axonal type 2FF, a hereditary peripheral neuropathy. The gene is highly constrained against loss-of-function variants (pLI = 0.93, LOEUF = 0.36), indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, axonal, type 2FF

Clinical highlights

Gene-disease validity (ClinGen)

Charcot-Marie-Tooth disease, axonal, type 2FF · ADModerateconsider for supplementary testing

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

0.35

LOEUF

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Mechanism

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