CNTN2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| contactin 2 | MIM:190197 | Ensembl:ENSG00000184144 | HGNC:HGNC:2172 | PA26686 | 1q32.1 |
GO terms in CNTN2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0030246 | carbohydrate binding |
| MF | TAS | GO:0042802 | identical protein binding |
| MF | IEA | GO:0043621 | protein self-association |
| BP | IEA | GO:0000226 | microtubule cytoskeleton organization |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | IEA | GO:0007411 | axon guidance |
| BP | IEA | GO:0007413 | axonal fasciculation |
| BP | IEA | GO:0007612 | learning |
| BP | IEA | GO:0007628 | adult walking behavior |
| BP | IEA | GO:0010954 | positive regulation of protein processing |
| BP | IEA | GO:0021853 | cerebral cortex GABAergic interneuron migration |
| BP | IEA | GO:0022010 | central nervous system myelination |
| BP | IEA | GO:0031133 | regulation of axon diameter |
| BP | IEA | GO:0031623 | receptor internalization |
| BP | ISS | GO:0045163 | clustering of voltage-gated potassium channels |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | IEA | GO:0048168 | regulation of neuronal synaptic plasticity |
| BP | IEA | GO:0048710 | regulation of astrocyte differentiation |
| BP | IEA | GO:0060168 | positive regulation of adenosine receptor signaling pathway |
| BP | ISS | GO:0071205 | protein localization to juxtaparanode region of axon |
| BP | IEA | GO:0071206 | establishment of protein localization to juxtaparanode region of axon |
| BP | IMP | GO:0097090 | presynaptic membrane organization |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0008076 | voltage-gated potassium channel complex |
| CC | IEA | GO:0009986 | cell surface |
| CC | IEA | GO:0031225 | anchored component of membrane |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | ISS | GO:0043209 | myelin sheath |
| CC | ISS | GO:0044224 | juxtaparanode region of axon |
| CC | ISS | GO:0045202 | synapse |
Gene expression in normal tissue: CNTN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CNTN2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-447038 | NrCAM interactions |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CNTN2
CLASSFICATION
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