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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
  • Contactin 2 (Transiently Expressed) 3
  • Axonin-1 Cell Adhesion Molecule 3
  • Contactin-2 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

  • This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

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 L1CAM interactions and Developmental Biology. GO annotations related to this gene include identical protein binding and glycoprotein binding. An important paralog of this gene is CNTN1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTN2 Gene

Genomics for CNTN2 Gene

Regulatory Elements for CNTN2 Gene

Enhancers for CNTN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G205246 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.6 +206.1 206051 5.1 HDGF HDAC1 ATF1 PTBP1 ARNT TCF12 ZNF121 GLIS2 GATA2 CREM TMCC2 DSTYK CNTN2 CDK18 NUAK2 TMEM81 LOC101929459 NFASC MFSD4A PIR41674
GH01G204971 1.4 Ensembl ENCODE dbSUPER 25.8 -71.0 -71006 1.5 PKNOX1 ATF1 RAD21 TCF12 GATA2 ZNF143 FOS CREM ZNF263 ZBTB11 CNTN2 MDM4 NFASC GYG2P2 ELK4 PPP1R15B LOC100420878 DSTYK RPL13AP11 GC01P205019
GH01G204991 1.1 ENCODE dbSUPER 26.2 -53.5 -53460 0.2 ATF1 RB1 ARNT ZNF2 RAD21 ZNF143 ZNF391 CREM DEK ZNF263 CNTN2 LOC101929459 GC01P205019 RPL13AP11
GH01G205010 1 dbSUPER 20.2 -25.9 -25870 12.8 ATF1 ZNF2 TCF12 ZNF766 GATA2 ZNF143 DEK ZNF263 REST SMARCA4 CNTN2 TMEM81 MFSD4A DSTYK GC01P205019 RPL13AP11
GH01G205258 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +216.4 216417 2.5 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 ZNF143 FOS TMCC2 DSTYK ELK4 MDM4 GYG2P2 LOC101929459 NUAK2 RBBP5 KLHDC8A CNTN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNTN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTN2 Gene

Chromosome:
1
Start:
205,042,937 bp from pter
End:
205,078,284 bp from pter
Size:
35,348 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

Post-translational modifications for CNTN2 Gene

  • Glycosylation at Asn76, Asn198, Asn204, posLast=461461, posLast=477477, posLast=498498, Asn525, posLast=830830, Asn904, Asn918, and posLast=940940
  • Modification sites at PhosphoSitePlus

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

Protein Products

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 :
  • Belongs to the immunoglobulin superfamily. Contactin family.
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:0001948 glycoprotein binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042802 identical protein binding TAS 12963709
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

  • Taconic Biosciences Mouse Models for CNTN2

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTN2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,ISS --
GO:0005887 integral component of plasma membrane TAS 8425542
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane 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

1 Cell Signaling Technology pathway for CNTN2 Gene
1 KEGG pathway 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,IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance 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

(26) Drugs for CNTN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CNTN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNTN2 Gene:

CNTN2

SOURCE GeneReport for Unigene cluster for CNTN2 Gene:

Hs.519220

Evidence on tissue expression from TISSUES for CNTN2 Gene

  • Nervous system(5)
  • Bone marrow(4)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTN2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with CNTN2: view

Primer 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 34 35
  • 98.71 (n)
dog
(Canis familiaris)
Mammalia CNTN2 34 35
  • 90.42 (n)
cow
(Bos Taurus)
Mammalia CNTN2 34 35
  • 88.72 (n)
rat
(Rattus norvegicus)
Mammalia Cntn2 34
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Cntn2 34 16 35
  • 86.42 (n)
oppossum
(Monodelphis domestica)
Mammalia CNTN2 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNTN2 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNTN2 34 35
  • 74.51 (n)
lizard
(Anolis carolinensis)
Reptilia CNTN2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487049 34
  • 63.57 (n)
zebrafish
(Danio rerio)
Actinopterygii cntn2 34 35
  • 62.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cont 36
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea C33F10.5a 36
  • 25 (a)
C33F10.5b 36
  • 25 (a)
Species where no ortholog for CNTN2 was found in the sources mined by GeneCards:
  • 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

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
rs398122387 Pathogenic 205,059,099(+) CCGCT(-/G)GCTCC nc-transcript-variant, reference, frameshift-variant
rs1000023507 -- 205,044,723(+) GGGGC(C/T)GGATG intron-variant
rs1000054487 -- 205,044,461(+) CCTGG(A/C/G/T)GGGGG intron-variant
rs1000140661 -- 205,070,292(+) TGCTT(-/G)GGGGG intron-variant
rs1000169856 -- 205,052,475(+) CTTTC(A/G)ACCCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CNTN2 Gene

Variant ID Type Subtype PubMed ID
esv3588628 CNV gain 21293372
nsv549041 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
CNTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN2 Gene

Disorders for CNTN2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
epilepsy, myoclonic, familial adult, 5
  • familial adult myoclonic epilepsy 5
benign adult familial myoclonic epilepsy
  • adcme
tropical spastic paraparesis
  • htlv-associated myelopathy
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
myelopathy, htlv-1-associated
  • htlv-1 associated myelopathy
- 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 22 64
  2. cDNA cloning, structural features, and eucaryotic expression of human TAG-1/axonin-1. (PMID: 8425542) Hasler T.H. … Sonderegger P. (Eur. J. Biochem. 1993) 3 4 22 64
  3. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (PMID: 23518707) Stogmann E. … Zimprich A. (Brain 2013) 3 4 64
  4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  5. Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDP. (PMID: 19776380) Iijima M. … Sobue G. (Neurology 2009) 3 46 64

Products for CNTN2 Gene

Sources for CNTN2 Gene

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