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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:7757 | childhood leukemia | |
| DOID:7912 | mixed oligodendroglioma-astrocytoma | |
| DOID:848 | arthritis | |
| DOID:8675 | obsolete ymphosarcoma | |
| DOID:8712 | neurofibromatosis | |
| DOID:8866 | actinic keratosis | |
| DOID:8927 | learning disability | |
| DOID:962 | neurofibroma |
- 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 |
|---|---|---|---|
| 173828 | WB:WBGene00016354 | ||
| 40553 | FB:FBgn0037240 | ||
| 103182537 | CALMI25195 | ||
| 102358197 | LATCH18249 | ||
| 30726 | ZFIN:ZDB-GENE-990630-12 | ||
| 108281007 | ICTPU16301 | ||
| 113588995 | ELEEL42222 | ||
| 106583505 | SALSA82870 | ||
| 115150307 | SALTR32452 | ||
| 115208120 | SALTR37778 |
