CNTN2 gene

contactin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Epilepsy, familial adult myoclonic, 5

From UniProt:

Epilepsy, familial adult myoclonic, 5 (FAME5): A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. 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; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment. [MIM:615400]

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1

Molecular Location: base pairs 205,043,160 to 205,078,043 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1
  • AXT
  • FAME5
  • TAG-1
  • TAX
  • TAX1