CNTN3

Chr 3

contactin 3

Also known as: BIG-1, PANG, PCS

NCBI Gene: 5067 ENSG00000113805 UniProt: Q9P232 OMIM: 601325

The protein mediates cell surface interactions during nervous system development and promotes neurite outgrowth as a cell adhesion molecule located in the extracellular region and plasma membrane. Mutations cause autosomal recessive developmental and epileptic encephalopathy with cortical blindness, intellectual disability, and seizures typically beginning in infancy. The gene shows low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cell adhesion. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

Multiple*

Mechanism· predicted