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FLASH GENE
Symbol CNTN4 contributors: mct - updated : 04-10-2022
HGNC name contactin 4
HGNC id 2174
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 5043 113.4 1026 - 2008 17915252
  • long isoform is restricted to surface of neurons and glia in the developing nervous system
  • 25 - 5453 - 1026 - 2008 17915252
    16 - 2318 - 698 - 2008 17915252
    24 - 5204 - 1026 - 2008 17915252
    16 - 3918 - 697 - 2008 17915252
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestiveintestinesmall intestine   
    Endocrinethyroid    
    Nervousbrain   moderatelyHomo sapiens
    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, anf fibronectin type III repeat
  • 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
        plasma membrane
    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)
  • CNTN4, CNTN5, CNTN6 play likely roles in brain development in a critical phase of establishing brain systems and their plasticity
  • critical and novel roles for CNTN4/APP in promoting target-specific axon arborization, and importance of this process for functional development of a behaviorally relevant parallel visual pathway
  • role of protein-protein interactions in the potential mechanism of action of CNTN4, -5 and -6 , suggesting that complexes with other membrane proteins may play a role in neuronal developmental functions
  • plays a crucial role in the formation, maintenance, and plasticity of neuronal networks
  • CNTN4 regulates dendritic spine density through a mechanism dependent on FnIII domains
  • is likely essential for promoting dendrite growth and dendritic spine formation
  • complex of CNTN4 and amyloid precursor protein (APP) is known to guide the assembly of specific circuits in the visual system
  • CNTN4, CNTN5, and the APP homologs, amyloid beta precursor like protein 1 and amyloid beta precursor like protein 2, may likely also function together in the organization of olfactory tissues
  • 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)
  • disruptive variants of CNTN4 interfere with abnormal synapse formation and may increase the risk of autism (
  • Candidate gene autism spectrum disorder
    Marker
    Therapy target
    ANIMAL & CELL MODELS