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FLASH GENE
Symbol CNTN2 contributors: mct/npt - updated : 13-03-2015
HGNC name contactin 2 (axonal)
HGNC id 2172
Corresponding disease
BAFME5 epilepsy, familial adult myoclonic,5
Location 1q32.1      Physical location : 205.012.339 - 205.047.136
Synonym name
  • axonin 1
  • transiently-expressed axonal glycoprotein
  • axonal glycoprotein TAG-1
  • Synonym symbol(s) TAG1, TAX, AXT, TAX1, AXO1, TAG-1, DKFZp781D102, FLJ42746, MGC157722
    DNA
    TYPE functioning gene
    STRUCTURE 34.80 kb     23 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MGC5457 1q32.1 hypothetical protein MGC5457 LAX 1q32.1 hypothetical protein FLJ20340 KIAA0663 1q32.1 hypothetical protein FLJ20340 SNRPE 1q32 small nuclear ribonucleoprotein polypeptide E LOC391155 1 similar to KRT8 protein FLJ40343 1q32.1 hypothetical protein FLJ40343 SOX13 1q31.3-q32.1 SRY (sex determining region Y)-box 13 FLJ10761 1q32.1 putative ethanolamine kinase REN 1q32 renin KISS1 1q32 KiSS-1 metastasis-suppressor FLJ42654 1q32.1 FLJ42654 protein PEPP3 1q32.1 phosphoinositol 3-phosphate-binding protein-3 PPP1R15B 1q32.1 protein phosphatase 1, regulatory (inhibitor) subunit 15B PIK3C2B 1q32 phosphoinositide-3-kinase, class 2, beta polypeptide MDM4 1q32 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) GAC1 NFASC 1q32.1 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) CNTN2 1q32.1 contactin 2 (axonal) LOC388730 1 similar to RIKEN cDNA 4930429O20 RBBP5 1q32 retinoblastoma binding protein 5 KIAA0472 HUCEP11 1q32.1 retinoblastoma binding protein 5 SNARK 1q32 Homo sapiens likely ortholog of rat SNF1/AMP-activated protein kinase (SNARK), mRNA. FLJ10748 1q32.1 hypothetical protein FLJ10748 LOC93273 1q32.1 hypothetical protein LOC93273 PCTK3 1q31-q32 PCTAIRE protein kinase 3 DKFZp761N1114 1q32.1 hypothetical protein DKFZp761N1114 ELK4 1q32 ELK4, ETS-domain protein (SRF accessory protein 1) Prostein 1q32.1 prostein protein NUCKS 1q31.1 prostein protein RAB7L1 1q32 RAB7, member RAS oncogene family-like 1 SLC41A1 1q32.1 solute carrier family 41, member 1 LOC388731 1 hypothetical gene supported by AK097788 FLJ32569 1q32.1 hypothetical protein FLJ32569 SLC26A9 1q31-q32 solute carrier family 26, member 9
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 7650 - 1040 - Tsiotra (1993)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartconducting system   
    Endocrineneuroendocrinepituitary   
    Nervousbrainbasal nucleicorpus callosum  
     brainhindbrainmedulla oblongata  
     gangliasensory gangliadorsal root highly
     nervecranial nerve   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousSchawnn cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text cerebellar developing neurons
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six Ig-like and four FNIII-like extracellular domains
  • a single transmembrane segment (TM)
  • a short cytoplasmic tail
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus transient axonal glycoprotein (Tag-1)
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • contactin family
  • CATEGORY adhesion , regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text TAX1BP1 and CNTN2 colocalize into intranuclear speckles that partially overlap with but are not identical to the PML oncogenic domains
    basic FUNCTION
  • playing a role in the initial growth and guidance of axons, and in glial tumorigenesis
  • transcriptional regulator that interacts with a large number of host cell factors
  • involved in axonal re-modelling, neuron-glia interactions, and glial cell migration
  • modulating negatively neurogenesis through APBB1 in the CNTN2-APP signalling pathway
  • cell adhesion molecule critical for neuronal patterning and ion channel clustering (Pallante 2010)
  • increasing APP intracellular domain release and triggers FE65-dependent transcriptional activity in a gamma-secretase-dependent manner by binding to APP (Tachi 2010)
  • inhibits TGFB2-mediated neuronal cell death via APP by attenuating the binding of TGFB2 to APP (Tachi 2010)
  • CNTN1, CNTN2 and L1-like proteins (NRCAM) play a significant role in modulating SHH-induced neuronal precursor proliferation
  • juxtaparanodal proteins CNTNAP2 and CNTN2 regulate diet-induced obesity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NRCAM for the development of the cerebellar system
  • binds TAX1BP1 directly, induces the dissociation of TAX1BP1 from the glucocorticoid receptor-containing protein complex, and represses the coactivator function of TAX1BP1
  • interaction with SEMA3D (SEMA3D and CNTN2 regulate the motility and behavior of growth cones extending in their natural environment and demonstrate that two different axon branches from one neuron respond differently to guidance cues) (Liu 2005)
  • link between CNTN2-induced IKK activation and the centrosome (Kfoury 2008)
  • myelin regulates both trafficking and activity of KCNA1, KCNA2 channels along hippocampal axons through CNTN2
  • BACE1-mediated CNTN2 cleavage tightly regulates the surface expression of CNTN2 in neuronal cells
  • SEMA5B inhibits the growth of NGF-dependent sensory axons and this effect is mediated in part through the cell adhesion molecule CNTN2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BAFME5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in gliomas (high-grade)
    constitutional     --over  
    in the brain after injury
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • novel marker of the specialized cardiac conduction system (Pallante 2010)
  • may be an age-related reduction of expression that may predispose neuros to death, mechanism that may contribute to the onset and the progression of Alzeihmer's disease-relevant neuronal cell death (Tachi 2010)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS