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FLASH GENE
Symbol NRXN3 contributors: mct/pgu - updated : 01-12-2021
HGNC name neurexin 3
HGNC id 8010
Location 14q24.3      Physical location : 78.870.092 - 80.330.758
Synonym name
  • chromosome 14 open reading frame 60
  • neurexin III-alpha
  • neurexin III-beta
    • Synonym symbol(s) KIAA0743, NX3A, C14orf60, MGC176711, FLJ38928, FLJ44845
    DNA
    TYPE functioning gene
    STRUCTURE 1888.39 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure two promoters: one promoter for the transcription of alpha neurexin and one for the beta
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • with long and shorter both with alternatively spliced isoforms (PMID: 9448462)
  • alternative splicing of presynaptic neurexin-3 controls postsynaptic AMPA receptor trafficking, revealing an unanticipated alternative splicing mechanism for trans-synaptic regulation of synaptic strength and long-term plasticity (PMID: 23827676)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 polyA site 10035 114.6 1061 - 2002 12379233
    6 - 8538 - 432 - 2002 12379233
    7 - 4847 46.5 459 - 2002 12379233
    22 - 11739 - 1468 - 2002 12379233
    21 - 12048 - 1571 - 2002 12379233
    20 - 11958 - 1541 - 2002 12379233
    6 - 9153 - 637 - 2002 12379233
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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 followed by a short cytoplasmic tail
    • isoforms Precursor with long and shorter forms both with alternatively spliced isoforms (Missler 1998)
    HOMOLOGY
    interspecies homolog to rattus neurexin III alpha
    Homologene
    FAMILY
  • neurexin family
    • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be involved in cell recognition molecules in the nerve terminal
  • presynaptic transmembrane proteins that bind to postsynaptic neuroligans, an interaction that aligns synaptic termini and dendrites, bringing them into close juxtaposition
  • play an essential role in synapse function, and its alterations are linked to autistic spectrum disorder
  • polymorphic presynaptic protein implicated in synaptic plasticity and memory processing
  • could have diverse roles in development including axon guidance, and intercellular communication between proliferating cells and/or migrating neurons
  • plays a critical role in synaptic functions involved in the cognitive decline associated with normal aging and Alzheimer disease (AD) (
  • potentialrole for NRXN3 in autism and neurodevelopmental/neuropsychiatric disorders
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    text putative
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • both NECTIN3 and NRXN3 were identified as functional targets of ZNF582, and the restoration or abrogation of these genes reversed the tumor suppressor effect of ZNF582 in nasopharyngeal carcinoma (NPC) metastasis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3 in autism spectrum disorders
    constitutional germinal mutation      
    in Alzheimer disease (AD) patients
    constitutional     --low  
    of aging-related NRXN3 may increase AD risk
    constitutional   deletion    
    in motor and language delay with criteria for autism, intellectual disability, attention-deficit hyperactivity disorder and facial dysmorphic features
    Susceptibility
  • to dependence on a variety of addictive substances
  • to Alzheimer's disease (AD)
  • to autism spectrum disorder (ASD)
    • Variant & Polymorphism SNP
  • increasing the risk of dependence on a variety of addictive substances
  • functional haplotype in the 3' region of NRXN3 gene that alters the expression ratios between NRXN3 transmembrane and soluble isoforms, and associated with AD
  • NRXN3 rs12879016 polymorphism played a significant role in ASD susceptibility
    • Candidate gene for autism spectrum disorder
    Marker
  • detection of PAX1/SOX1/ZNF582 methylation status may serve as a promising biomarker for ESCC screening and diagnosis of Esophageal squamous cell carcinoma (ESCC)
  • for patients with high-grade cervical lesion and cervical cancer, the methylation level of PAX1/ZNF582 gene could be applied as a noteworthy biomarker for diagnosis
    • Therapy target
    ANIMAL & CELL MODELS