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... See more...

Aliases for CNTN2 Gene

Aliases for CNTN2 Gene

  • Contactin 2 2 3 5
  • TAX1 2 3 4
  • Transient Axonal Glycoprotein 1 3 4
  • Axonal Glycoprotein TAG-1 3 4
  • Contactin 2 (Axonal) 2 3
  • Contactin-2 3 4
  • TAG-1 2 3
  • AXT 3 4
  • Contactin 2 (Transiently Expressed) 3
  • Axonin-1 Cell Adhesion Molecule 3
  • Axonin-1 4
  • FAME5 3
  • CNTN2 5
  • 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, Familial Adult Myoclonic, 5 and Familial Adult Myoclonic Epilepsy. Among its related pathways are Neuroscience and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNTN1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CNTN2 Gene

Genomics for CNTN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNTN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J205053 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 609 +0.6 564 1.8 POLR2A EZH2 ZNF843 CNTN2 ENSG00000225063 lnc-NFASC-1 TMEM81
GH01J205041 Enhancer 0.5 dbSUPER 600.7 -1.7 -1651 0.3 CEBPG SP1 POLR2A HNF4A RXRA SMARCA4 HNF4G CNTN2 RF00017-451 NFASC
GH01J205042 Enhancer 0.5 dbSUPER 600.7 -0.5 -497 0.2 MYNN ZNF768 ZNF843 EZH2 ZNF473 CNTN2 RF00017-451 NFASC
GH01J205246 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.7 +205.7 205733 5.7 CREB1 ATF7 PRDM10 IKZF1 KDM1A JUND PHF21A ZIC2 HDAC1 ZNF600 TMCC2 DSTYK CNTN2 CDK18 NUAK2 TMEM81 ENSG00000225063 NFASC MFSD4A TMCC2-AS1
GH01J204967 Enhancer 1.2 Ensembl ENCODE dbSUPER 26 -70.0 -70036 10.2 ARHGAP35 CTCF PRDM10 ZNF512 IKZF1 JUND PRDM1 ZNF143 MTA2 RELA CNTN2 MDM4 NFASC ELK4 PPP1R15B ENSG00000236942 DSTYK HSALNG0009915 AB372584
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTN2

Top Transcription factor binding sites by QIAGEN in the CNTN2 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CNTN2 Gene

Genomic Locations for CNTN2 Gene
chr1:205,042,937-205,078,289
(GRCh38/hg38)
Size:
35,353 bases
Orientation:
Plus strand
chr1:205,012,325-205,047,627
(GRCh37/hg19)
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

Post-translational modifications for CNTN2 Gene

  • Glycosylation at Asn76, Asn198, Asn204, Asn461, Asn477, Asn498, Asn525, Asn830, Asn904, Asn918, and Asn940
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNTN2 Gene

Domains & Families for CNTN2 Gene

Gene Families for CNTN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for CNTN2 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Fibronectin type III repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for CNTN2 Gene

GenScript: Design optimal peptide antigens:
  • Contactin 2 (Axonal) (A1L3A3_HUMAN)
  • Transient axonal glycoprotein 1 (CNTN2_HUMAN)

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.

Phenotypes From GWAS Catalog for CNTN2 Gene

Gene Ontology (GO) - Molecular Function for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042802 identical protein binding TAS 12963709
GO:0043621 protein self-association IEA --
GO:0098632 cell-cell adhesion mediator activity IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN2

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 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CNTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0030424 axon IBA 21873635
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with CNTN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTN2 Gene

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

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:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA 21873635
GO:0007399 nervous system development 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

(27) Drugs for CNTN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) 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

mRNA/cDNA for CNTN2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN2

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

Expression for CNTN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for CNTN2 Gene



Protein tissue co-expression partners for CNTN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Muscle(2.7)
  • Heart(2.5)
  • Eye(2.3)
  • Kidney(2.2)
  • Skin(2.2)
  • Blood(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
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

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 30 31
  • 98.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNTN2 30 31
  • 90.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNTN2 30 31
  • 88.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cntn2 30
  • 86.85 (n)
Mouse
(Mus musculus)
Mammalia Cntn2 30 17 31
  • 86.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNTN2 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CNTN2 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNTN2 30 31
  • 74.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CNTN2 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487049 30
  • 63.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii cntn2 30 31
  • 62.44 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cont 32
  • 31 (a)
Worm
(Caenorhabditis elegans)
Secernentea C33F10.5a 32
  • 25 (a)
C33F10.5b 32
  • 25 (a)
Species where no ortholog for CNTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CNTN2: view image

Paralogs for CNTN2 Gene

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

  • CNTN2_HUMAN
  • A1L3A3_HUMAN
  • L8ECB9_HUMAN
genes like me logo Genes that share paralogs with CNTN2: view

Variants for CNTN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
639668 Uncertain Significance: Epilepsy, familial adult myoclonic, 5 205,067,151(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
640931 Uncertain Significance: Epilepsy, familial adult myoclonic, 5 205,061,925(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641467 Uncertain Significance: Epilepsy, familial adult myoclonic, 5 205,067,127(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643988 Uncertain Significance: Epilepsy, familial adult myoclonic, 5 205,070,500(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645327 Uncertain Significance: Epilepsy, familial adult myoclonic, 5 205,065,122(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CNTN2 Gene

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)

Additional Variant Information for CNTN2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CNTN2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for CNTN2 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. 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. Some patients exhibit mild cognitive impairment. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive. {ECO:0000269 PubMed:23518707}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CNTN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 PC … Papamatheakis J (Genomics 1993) 2 3 4 23
  2. cDNA cloning, structural features, and eucaryotic expression of human TAG-1/axonin-1. (PMID: 8425542) Hasler TH … Sonderegger P (European journal of biochemistry 1993) 3 4 23
  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 : a journal of neurology 2013) 3 4
  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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41
  5. Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDP. (PMID: 19776380) Iijima M … Sobue G (Neurology 2009) 3 41

Products for CNTN2 Gene

  • Signalway Proteins for CNTN2

Sources for CNTN2 Gene