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FLASH GENE
Symbol NLGN3 contributors: mct - updated : 02-07-2012
HGNC name neuroligin 3
HGNC id 14289
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a alpha/beta-hydrolase fold domain (disease-related mutations in the alpha/beta-hydrolase fold domain share common trafficking deficiencies)
  • HOMOLOGY
    interspecies homolog to rattus Neuroligin
    Homologene
    FAMILY alpha/beta-hydrolase fold family
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • potential mediator of cell-cell interactions between neurons
  • triggering presynaptic development in contacting axon and playing a role in synaptic cell adhesion
  • postsynaptic adhesion protein that control the maturation and function of synapses in the central nervous system (CNS)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text formation and remodeling of central nervous system synapses
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with SNTG2 (binding is influenced by autism-related mutations)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASPGS , AUTSX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    mental retardation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Nl3(R451C) mutant mice, a single point mutation in a synaptic cell adhesion molecule causes context-dependent changes in synaptic transmission, and these changes are consistent with the broad impact of this mutation on murine and human behaviors
  • NL-3-deficient mice display a behavioral phenotype reminiscent of the lead symptoms of ASD: reduced ultrasound vocalization and a lack of social novelty preference