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FLASH GENE
Symbol NLGN4X contributors: mct/npt - updated : 09-09-2011
HGNC name neuroligin 4, X-linked
HGNC id 14287
Corresponding disease
AUTSX2 autism spectrum disorder, X-linked 2
Location Xp22.32      Physical location : 5.808.083 - 6.146.706
Synonym name neuroligin 4
Synonym symbol(s) KIAA1260 , HNLX, NLGN4, HLNX, NLGN, AUTSX2, MGC22376
DNA
TYPE functioning gene
STRUCTURE 338.62 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text variants 1 and 2 encode the same isoform
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 5706 110 816 - 2001 11368788
6 - 5672 110 816 - 2001 11368788
differing in the 5' UTR compared to variant 1
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   lowly
Endocrineneuroendocrinepituitary  highly Homo sapiens
Nervousbraindiencephalonhypothalamus highly Homo sapiens
 gangliasensory gangliadorsal root highly Homo sapiens
Urinarybladder   highly
Visualeyeuveachoroid highly
 eyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal hydrophobic sequence with the characteristics of a cleaved signal peptide
  • one esterase-like domain encompassing almost the entire extra cellular part
  • one short linker in front of transmembrane domain
  • four cytosolic regions
  • a PDZ-binding domain as well as a gephyrin-binding motif (can therefore, in principle, associate with both excitatory and inhibitory postsynaptic scaffolds)
  • a short cytoplasmic domain
  • HOMOLOGY
    intraspecies homolog to NLGN3
    Homologene
    FAMILY
  • neurologin family
  • type-B carboxylesterase/lipase family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • localized to inhibitory, preferentially glycinergic synapses in the retina and is the only neuroligin isoform to display such selectivity
  • basic FUNCTION
  • playing a role in the maturation and function of neuronal synapses
  • triggering presynaptic development in contacting axons and playing a role in synaptic cell adhesion
  • neuronal-specific brain membrane protein which plays an important role in the formation of functional presynaptic elements and axon specialization
  • postsynaptic adhesion protein that control the maturation and function of synapses in the central nervous system (CNS)
  • modulates synaptic function and network activity in the retina
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text formation and remodeling of central nervous system synapses
    PATHWAY
    metabolism
    signaling
    a component
  • forms complexes with the inhibitory postsynapse proteins gephyrin and collybistin, indicating that it is an important component of glycinergic postsynapses
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DLG4 through DLG4, PZD domain
  • interacting with SNTG2 (binding is influenced by autism-related mutations)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTSX2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    associated with a wide spectrum of neuropsychiatric disorders including Tourette syndrome, ADHD, and depression
    Susceptibility
  • to mental retardation with/without autism
  • to autism spectrum disorder (ASD)
  • Variant & Polymorphism other
  • a point mutation can cause ASD by a loss-of-function mechanism
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS