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FLASH GENE
Symbol CNTN4 contributors: mct - updated : 04-10-2022
HGNC name contactin 4
HGNC id 2174
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