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FLASH GENE
Symbol CNTN4 contributors: npt/ - updated : 02-03-2007
HGNC name contactin 4
HGNC id 2174
Corresponding disease
DEL3PD chromosome 3p25 deletion syndrome
Location 3p26.3      Physical location : 2.142.246 - 3.099.644
Synonym name
  • brain-derived immunoglobulin superfamily protein 2
  • axonal-associated cell adhesion molecule
  • neural cell adhesion protein BIG-2
  • Synonym symbol(s) AXCAM, BIG-2, CNTN4A, MGC33615
    DNA
    TYPE functioning gene
    STRUCTURE 957.40 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5043 113.4 1026 - Zeng (2002)
  • long isoform is restricted to surface of neurons and glia in the developing nervous system
  • 6 - 3072 - 282 mainly expressed in brain Zeng (2002)
  • also called CNTN4A
  • an N-terminal cleavable signal peptide, two FNIII-like domains, and a glycosyl phosphatidylinositol-anchoring domain
  • 16 - 2318 - 698 - Zeng (2002)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestiveintestinesmall intestine   
    Endocrinethyroid    
    Nervousbrain    
    Reproductivefemale systemuterus   
     male systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal signal peptide
  • six immunoglobulin-like C2 type domains
  • five fibronectin type 2 domains
  • C terminal GPI anchoring domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus cntn4
    ortholog to murine Cntn4
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • contactin family
  • CATEGORY immunity/defense , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • may be playing a role in the formation of axon connections in the developing nervous system
  • may be involved in synaptogenesis
  • plays an essential role in the formation, maintenance, and plasticity of neuronal networks (Roohi 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PTPRG (Abdelhakim 2010)
  • cell & other
    REGULATION
    induced by retinoic acid
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL3PD
    Susceptibility to autism spectrum disorder (ASD)
    Variant & Polymorphism other
  • CNV resulting from Alu Y mediated NAHR, in ASD (Roohi 2009)
  • copy number variations (CNVs) disrupting contactin 4 (CNTN4), in three individuals with autism spectrum disorder (ASD) (Roohi 2009)
  • Candidate gene autism spectrum disorder
    Marker
    Therapy target
    ANIMAL & CELL MODELS