CNTN2

Chr 1AR

contactin 2

Also known as: AXT, EPEO5, FAME5, TAG-1, TAX, TAX1

NCBI Gene: 6900 ENSG00000184144 UniProt: Q02246 OMIM: 190197

This protein is a GPI-anchored neuronal membrane glycoprotein that organizes axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region and functions in neuronal proliferation, migration, and axon guidance during cerebellar development. Autosomal recessive mutations cause early-onset epilepsy with or without developmental delay. The gene is highly constrained against loss-of-function variants (LOEUF 0.437), indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epilepsy, early-onset, 5, with or without developmental delayMIM #615400

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels

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

0.44

LOEUF

Multiple*

Mechanism· predicted