contactin 2
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein localization to juxtaparanode region of axon | ||
| establishment of protein localization to juxtaparanode region of axon | ||
| presynaptic membrane organization |
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| cell surface | ||
| axon | ||
| node of Ranvier |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| carbohydrate binding | ||
| cell-cell adhesion mediator activity |
| Gene Ontology |
|---|
| brain development |
| cell-cell adhesion mediator activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111691 | familial adult myoclonic epilepsy 5 |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002197 | Generalized-onset seizure |
| HP:0002315 | Headache |
| HP:0002353 | EEG abnormality |
| HP:0002378 | Hand tremor |
| HP:0002384 | Focal impaired awareness seizure |
| Disease ID | Disease Name |
|---|---|
| ORPHA:86814 |
|
| OMIM:615400 |
|
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026