CNTN2 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CNTN2 |
| Official Name | contactin 2 [Source:HGNC Symbol;Acc:HGNC:2172] |
| Ensembl ID | ENSG00000184144 |
| Bio databases IDs | |
| Aliases | contactin 2 |
| Synonyms | Axonin-1, AXT, Contactin, contactin 2, D130012K04Rik, EPEO5, FAME5, TAG-1, TAG-564, TAX, TAX1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CNTN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- FN3
- immunoglobulin domain
- cell adhesion molecule binding
- ectodomain
- Immunoglobulin like
- Purple acid Phosphatase, N-terminal domain
- Immunoglobulin I-set domain
- protein binding
- carbohydrate binding
- Fibronectin type 3 domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- colorectal cancer
- seizures
- Parkinson disease
- familial adult myoclonic epilepsy type 5
- schizophrenia
- cleft lip
- spondylarthritis
- complex neurodevelopmental disorder
role in cell
- proliferation
- quantity
- growth
- differentiation
- migration
- formation in
- morphology
- signaling in
- formation
- plasticity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- axon component
- Cytoplasm
- cell surface
- Extracellular Space
- membrane surface
- cellular membrane
- microdomains
- postsynaptic membrane
- nodes of Ranvier
- growth cone
- neurites
- myelin sheath
- juxtaparanodes
- inner mesaxons
- synapse
- Schmidt-Lanterman incisures
- membrane rafts
- cell membrane leading edge
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNTN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- clustering of voltage-gated potassium channels
- synapse organization
- presynaptic membrane organization
- dendrite self-avoidance
- protein localization to juxtaparanode region of axon
- axon guidance
- cell adhesion
- homophilic cell adhesion
- fat cell differentiation
- reduction of food intake in response to dietary excess
- establishment of protein localization to juxtaparanode region of axon
Cellular Component
Where in the cell the gene product is active
- initial segment
- myelin sheath
- postsynaptic membrane
- node of Ranvier
- synapse
- juxtaparanode region of axon
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding