contactin 2

Summary
Gene Symbol
  • CNTN2
Aliases
  • TAG-1
  • TAX1
Organism
Homo sapiens (human)
NCBI Gene
6900
HGNC
2172
KEGG Gene ID
hsa:6900
PubChem
6900
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cell adhesion
  • Cell membrane
  • Direct protein sequencing
  • Disulfide bond
  • Epilepsy
  • GPI-anchor
  • Immunoglobulin domain
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A1L3A3
Q02246
  • Axonal glycoprotein TAG-1
  • Axonin-1
  • Transient axonal glycoprotein 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Down syndrome cell adhesion molecule-like protein
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K06760
Name
contactin 2
References
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0111691 familial adult myoclonic epilepsy 5
DOID:3070 high grade glioma
DOID:5602 T-cell adult acute lymphocytic leukemia
DOID:850 lung disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
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
Displaying all 2 entries
Disease ID Disease Name
ORPHA:86814
  • benign adult familial myoclonic epilepsy
OMIM:615400
  • epilepsy, familial adult myoclonic, 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024