Aliases for CNTN2 Gene
External Ids for CNTN2 Gene
Previous HGNC Symbols for CNTN2 Gene
Previous GeneCards Identifiers for CNTN2 Gene
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]
GeneCards Summary for CNTN2 Gene
CNTN2 (Contactin 2) is a Protein Coding gene. Diseases associated with CNTN2 include Epilepsy, Familial Adult Myoclonic, 5 and Benign Adult Familial Myoclonic Epilepsy. Among its related pathways are NCAM1 interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNTN1.
UniProtKB/Swiss-Prot Summary for CNTN2 Gene
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.