CNTN2

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 L1CAM interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNTN1.

Contactin 2

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.

Axon guidance Source: GO_Central
Cell adhesion Source: ProtInc
Clustering of voltage-gated potassium channels Source: BHF-UCL
Dendrite self-avoidance Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: GO_Central
Presynaptic membrane organization Source: UniProtKB
Protein localization to juxtaparanode region of axon Source: BHF-UCL

Cell membrane. Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.

Epilepsy, familial adult myoclonic, 5 (FAME5):
A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive.