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FLASH GENE
Symbol NLGN3 contributors: mct - updated : 02-07-2012
HGNC name neuroligin 3
HGNC id 14289
Corresponding disease
ASPGS Asperger syndrome, childhood autism
AUTSX1 autism spectrum disorder, X-linked 1
Location Xq13.1      Physical location : 70.364.680 - 70.391.049
Synonym name
  • gliotactin homolog
  • Synonym symbol(s) KIAA1480, HNL3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text putative promoter overlapping the last exon of TNRC11
    STRUCTURE 26.37 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ARR3 Xq13.1 arrestin 3, retinal (X-arrestin) LOC347517 Xq13.1 similar to DNA segment, Chr 9, Brigham & Womens Genetics 0185 expressed LOC51248 Xq13.1 hypothetical protein LOC51248 KIF4A Xq13.1 kinesin family member 4A OBDPF Xq13.1 osteoblast differentiation promoting factor DLG3 Xq13.1 discs, large (Drosophila) homolog 3 (neuroendocrine-dlg) TEX11 Xq12-q13.1 testis expressed sequence 11 SLC7A3 Xq12 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 LOC392488 X similar to Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15) SNX12 Xq12-q13.1 sorting nexin 12 MLLT7 Xq13.1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 LOC158830 Xq13.1 similar to Ab2-183 IL2RG Xq12-q13.1 interleukin 2 receptor, gamma (severe combined immunodeficiency) TNRC11 Xq13 trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit) NLGN3 Xq13.1 neuroligin 3 GJB1 Xq13.1 gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) ZNF261 Xq13.1 zinc finger protein 261 NONO Xq13.1 non-POU domain containing, octamer-binding ITGB1BP2 Xq12.1-q13 integrin beta 1 binding protein (melusin) 2 LOC392489 X similar to ras homolog gene family, member G (rho G); RhoG TAF1 Xq13.1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ING2 Xq12 inhibitor of growth family, member 2 OGT Xq13 O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ACRC Xq13.1 acidic repeat containing CXCR3 Xq13 chemokine (C-X-C motif) receptor 3 LOC158825 Xq13.1 hypothetical LOC158825 LOC389868 X LOC389868 LOC389869 X LOC389869 LOC389870 X LOC389870 LOC389871 X LOC389871
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3995 - 848 - 2000 10767552
    7 - 3935 - 828 - 2000 10767552
    6 - 3875 - 808 - 2000 10767552
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineadrenal gland   highly
    Nervousbrainlimbic systemhippocampus  
     braindiencephalonamygdala  
    Reproductivemale systemprostate  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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