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FLASH GENE
Symbol NRXN2 contributors: mct/pgu - updated : 06-04-2016
HGNC name neurexin 2
HGNC id 8009
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal signal peptide
  • three overall repeats, each composed of two similar domains LNS (laminin A/neurexin/sex hormone-binding globulin) separated from each other by an EGF-like sequence
  • an O-glycosylation site
  • a single TM segment
  • a short cytoplasmic tail
    • HOMOLOGY
    interspecies homolog to rattus Neurexin II alpha
    Homologene
    FAMILY
  • neurexin family
    • CATEGORY adhesion , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • neuronal cell surface protein involved in cell recognition and cell adhesion
  • mediating intracellular signaling
  • play an essential role in synapse function, and its alterations are linked to autistic spectrum disorder
  • polymorphic presynaptic proteins that are implicated in synaptic plasticity and memory processing
  • NRXN2 may play a part in early cortical synaptogenesis, but NRXNs could have diverse roles in development including axon guidance, and intercellular communication between proliferating cells and/or migrating neurons
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    text putative
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • binding to alpha-dystroglycan
    • protein
  • neuroxophilin 1 (by laminin g-like domain 2)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorders (ASD)
    Variant & Polymorphism other
  • NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD
    • Candidate gene for autism
    Marker
    Therapy target
    ANIMAL & CELL MODELS