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Aliases for CNTN2 Gene

Aliases for CNTN2 Gene

  • Contactin 2 2 3 5
  • Transient Axonal Glycoprotein 1 3 4
  • Axonal Glycoprotein TAG-1 3 4
  • Contactin 2 (Axonal) 2 3
  • TAX1 3 4
  • AXT 3 4
  • Transiently-Expressed Axonal Glycoprotein 3
  • Contactin 2 (Transiently Expressed) 3
  • Axonin-1 Cell Adhesion Molecule 3
  • Axonin-1 4
  • FAME5 3
  • TAG-1 3
  • TAX-1 4
  • TAG1 4
  • TAX 3

External Ids for CNTN2 Gene

Previous HGNC Symbols for CNTN2 Gene

  • TAX
  • AXT

Previous GeneCards Identifiers for CNTN2 Gene

  • GC01P202738
  • GC01P200473
  • GC01P201372
  • GC01P202189
  • GC01P201743
  • GC01P203278
  • GC01P205012
  • GC01P176177

Summaries for CNTN2 Gene

Entrez Gene Summary for CNTN2 Gene

  • The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNTN2 Gene

CNTN2 (Contactin 2) is a Protein Coding gene. Diseases associated with CNTN2 include epilepsy, myoclonic, familial adult, 5 and benign adult familial myoclonic epilepsy. Among its related pathways are Developmental Biology and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include identical protein binding and glycoprotein binding. An important paralog of this gene is DSCAML1.

UniProtKB/Swiss-Prot for CNTN2 Gene

  • In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.

Gene Wiki entry for CNTN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTN2 Gene

Genomics for CNTN2 Gene

Regulatory Elements for CNTN2 Gene

Genomic Location for CNTN2 Gene

Chromosome:
1
Start:
205,043,197 bp from pter
End:
205,078,499 bp from pter
Size:
35,303 bases
Orientation:
Plus strand

Genomic View for CNTN2 Gene

Genes around CNTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTN2 Gene

Proteins for CNTN2 Gene

  • Protein details for CNTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02246-CNTN2_HUMAN
    Recommended name:
    Contactin-2
    Protein Accession:
    Q02246
    Secondary Accessions:
    • P78432
    • Q5T054

    Protein attributes for CNTN2 Gene

    Size:
    1040 amino acids
    Molecular mass:
    113393 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CNTN2 Gene

neXtProt entry for CNTN2 Gene

Proteomics data for CNTN2 Gene at MOPED

Post-translational modifications for CNTN2 Gene

  • Glycosylation at Asn 76, Asn 198, Asn 204, Asn 461, Asn 477, Asn 498, Asn 525, Asn 830, Asn 904, Asn 918, and Asn 940
  • Modification sites at PhosphoSitePlus

Other Protein References for CNTN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CNTN2 (Contactin-2/TAG1)
  • Cell Signaling Technology (CST) Antibodies for CNTN2 (CNTN2)
  • Cloud-Clone Corp. Antibodies for CNTN2

No data available for DME Specific Peptides for CNTN2 Gene

Domains & Families for CNTN2 Gene

Suggested Antigen Peptide Sequences for CNTN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q02246

UniProtKB/Swiss-Prot:

CNTN2_HUMAN :
  • Contains 4 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. Contactin family.
Domain:
  • Contains 4 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. Contactin family.
genes like me logo Genes that share domains with CNTN2: view

Function for CNTN2 Gene

Molecular function for CNTN2 Gene

UniProtKB/Swiss-Prot Function:
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.

Gene Ontology (GO) - Molecular Function for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with CNTN2: view
genes like me logo Genes that share phenotypes with CNTN2: view

Human Phenotype Ontology for CNTN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNTN2 Gene

MGI Knock Outs for CNTN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTN2 Gene

Localization for CNTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTN2 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNTN2 Gene COMPARTMENTS Subcellular localization image for CNTN2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0005887 integral component of plasma membrane TAS 8425542
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CNTN2: view

Pathways & Interactions for CNTN2 Gene

genes like me logo Genes that share pathways with CNTN2: view

Pathways by source for CNTN2 Gene

Gene Ontology (GO) - Biological Process for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0001764 neuron migration IEA --
GO:0007155 cell adhesion NAS 8425542
GO:0007160 cell-matrix adhesion IEA --
GO:0007409 axonogenesis IEA --
genes like me logo Genes that share ontologies with CNTN2: view

No data available for SIGNOR curated interactions for CNTN2 Gene

Drugs & Compounds for CNTN2 Gene

(23) Drugs for CNTN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(21) Additional Compounds for CNTN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNTN2: view

Transcripts for CNTN2 Gene

Unigene Clusters for CNTN2 Gene

Contactin 2 (axonal):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNTN2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^
SP1: - - - -
SP2: -
SP3:
SP4: - - - - - - -
SP5:
SP6:
SP7:
SP8:

ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
SP1:
SP2:
SP3: - -
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for CNTN2 Gene

GeneLoc Exon Structure for
CNTN2
ECgene alternative splicing isoforms for
CNTN2

Expression for CNTN2 Gene

mRNA expression in normal human tissues for CNTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNTN2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x11.6), Brain - Substantia nigra (x7.6), and Brain - Hippocampus (x5.0).

Protein differential expression in normal tissues from HIPED for CNTN2 Gene

This gene is overexpressed in Frontal cortex (18.8), Cerebrospinal fluid (18.1), Fetal Brain (13.4), and Brain (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNTN2 Gene



SOURCE GeneReport for Unigene cluster for CNTN2 Gene Hs.519220

genes like me logo Genes that share expression patterns with CNTN2: view

Protein tissue co-expression partners for CNTN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CNTN2 Gene

Orthologs for CNTN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNTN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNTN2 35
  • 98.71 (n)
  • 98.5 (a)
CNTN2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNTN2 36
  • 91 (a)
OneToOne
CNTN2 35
  • 88.72 (n)
  • 91.25 (a)
dog
(Canis familiaris)
Mammalia CNTN2 35
  • 90.42 (n)
  • 92.49 (a)
CNTN2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntn2 36
  • 90 (a)
OneToOne
Cntn2 16
Cntn2 35
  • 86.42 (n)
  • 91.72 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTN2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTN2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntn2 35
  • 86.85 (n)
  • 91.62 (a)
chicken
(Gallus gallus)
Aves CNTN2 35
  • 74.51 (n)
  • 76.08 (a)
CNTN2 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNTN2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487049 35
  • 63.57 (n)
  • 64.74 (a)
zebrafish
(Danio rerio)
Actinopterygii cntn2 36
  • 60 (a)
OneToOne
cntn2 35
  • 62.44 (n)
  • 60.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cont 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea C33F10.5a 37
  • 25 (a)
C33F10.5b 37
  • 25 (a)
Species with no ortholog for CNTN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNTN2 Gene

ENSEMBL:
Gene Tree for CNTN2 (if available)
TreeFam:
Gene Tree for CNTN2 (if available)

Paralogs for CNTN2 Gene

(8) SIMAP similar genes for CNTN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNTN2: view

Variants for CNTN2 Gene

Sequence variations from dbSNP and Humsavar for CNTN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2275697 - 205,058,609(-) ATGAG(C/T)TTTCA reference, missense
rs2305276 - 205,066,593(-) GGTCC(A/G)AACCT reference, missense
rs2229866 - 205,061,988(+) GGAGC(C/T)TCTGG reference, missense
rs17416074 - 205,073,712(+) GCACC(A/G)TCATT reference, missense
rs867513 -- 205,048,834(+) AAATG(A/G)ATGCA intron-variant

Variation tolerance for CNTN2 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.39; 88.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNTN2 Gene

HapMap Linkage Disequilibrium report
CNTN2
Human Gene Mutation Database (HGMD)
CNTN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CNTN2 Gene

Disorders for CNTN2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CNTN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, myoclonic, familial adult, 5
  • epilepsy, familial adult myoclonic, 5
benign adult familial myoclonic epilepsy
  • adcme
tropical spastic paraparesis
  • htlv-associated myelopathy
human t-cell leukemia virus type 2
  • htlv-2
human t-cell leukemia virus type 1
  • htlv-1
- elite association - COSMIC cancer census association via MalaCards
Search CNTN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNTN2_HUMAN
  • Epilepsy, familial adult myoclonic, 5 (FAME5) [MIM:615400]: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment. {ECO:0000269 PubMed:23518707}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNTN2

Genetic Association Database (GAD)
CNTN2
Human Genome Epidemiology (HuGE) Navigator
CNTN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTN2
genes like me logo Genes that share disorders with CNTN2: view

No data available for Genatlas for CNTN2 Gene

Publications for CNTN2 Gene

  1. Isolation of the cDNA and chromosomal localization of the gene (TAX1) encoding the human axonal glycoprotein TAG-1. (PMID: 8307567) Tsiotra C.P. … Papamatheakis J. (Genomics 1993) 2 3 4 23 67
  2. Cis-activation of L1-mediated ankyrin recruitment by TAG-1 homophilic cell adhesion. (PMID: 9837910) Malhotra J.D. … Hortsch M. (J. Biol. Chem. 1998) 3 23
  3. TAG-1/axonin-1 is a high-affinity ligand of neurocan, phosphacan/protein-tyrosine phosphatase-zeta/beta, and N-CAM. (PMID: 8663515) Milev P. … Margolis R.U. (J. Biol. Chem. 1996) 3 23
  4. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. (PMID: 8586965) Yoshihara Y. … Mori K. (J. Neurobiol. 1995) 2 3
  5. Cell-cell adhesion by homophilic interaction of the neuronal recognition molecule axonin-1. (PMID: 8344273) Rader C. … Sonderegger P. (Eur. J. Biochem. 1993) 3 23

Products for CNTN2 Gene

Sources for CNTN2 Gene

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