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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
contactin 2
Summary
- Gene Symbol
-
- CNTN2
- Aliases
-
- TAG-1
- TAX1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cell adhesion
- Cell membrane
- Direct protein sequencing
- Disulfide bond
- Epilepsy
- GPI-anchor
- Immunoglobulin domain
- Reference proteome
- Repeat
- Signal
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| clustering of voltage-gated potassium channels | ||
| synapse organization | ||
| dendrite self-avoidance | ||
| homophilic cell adhesion via plasma membrane adhesion molecules | ||
| axon guidance |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| juxtaparanode region of axon | ||
| axon | ||
| postsynaptic membrane | ||
| synapse | ||
| axon initial segment |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell-cell adhesion mediator activity | ||
| protein binding |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110119 | autoimmune lymphoproliferative syndrome type 3 | |
| DOID:0111253 | neurofibromatosis 1 | |
| DOID:0111691 | familial adult myoclonic epilepsy 5 | |
| DOID:1059 | intellectual disability | |
| DOID:10652 | Alzheimer's disease | |
| DOID:10907 | microcephaly | |
| DOID:11054 | urinary bladder cancer | |
| DOID:11832 | visual epilepsy | |
| DOID:11870 | Pick's disease | |
| DOID:1192 | peripheral nervous system neoplasm |
- The Human Phenotype Ontology
| 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 |
|---|---|
| OMIM:615400 |
|
| ORPHA:86814 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100171864 | PONAB19309 | ||
| 100685268 | CANLF14302 | ||
| 123785693 | URSAM01292 | ||
| 100467406 | AILME13830 | ||
| 101084252 | FELCA36966 | ||
| 122211786 | PANLE31171 | ||
| 118884095 | BALMU24650 | ||
| 100655357 | LOXAF14420 | ||
| 100050179 | HORSE33694 | ||
| 110255467 | PIGXX35899 |
