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Relevance to Autism

Nlgn2(-/-) mice displayed reduced exploratory activity, impaired rotarod performance, and delays on several developmental milestones, whereas Nlgn2(-/-) pups isolated from mother and littermates emitted fewer ultrasonic vocalizations and spent less time calling than Nlgn2(+/+) littermate controls (Wohr et al., 2013).

Molecular Function

Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors), by recruiting and clustering synaptic proteins. Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroli...
Support
Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.
ASD, DD, ID
Anxiety, obsessive-compulsive behaviors, obesity,
Support
ASD
DD, ID
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
ASD, ADHD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.
SCZ
Support
GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation.
Support
Neuroligin 2 R215H Mutant Mice Manifest Anxiety, Increased Prepulse Inhibition, and Impaired Spatial Learning and Memory.
Support
ASD
Somatosensory behaviors
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN627R001 
 missense_variant 
 c.988C>T 
 p.Arg330Cys 
 De novo 
  
 Simplex 
 GEN627R002 
 missense_variant 
 c.1342C>T 
 p.Arg448Cys 
 De novo 
  
  
 GEN627R003 
 stop_gained 
 c.441C>A 
 p.Tyr147Ter 
 De novo 
  
 Multi-generational 
 GEN627R004 
 missense_variant 
 c.1956G>T 
 p.Glu652Asp 
 De novo 
  
 Simplex 
 GEN627R005 
 missense_variant 
 c.644G>A 
 p.Arg215His 
 Unknown 
  
 Simplex 
 GEN627R006 
 synonymous_variant 
 c.903C>T 
 p.Asn301%3D 
 De novo 
  
  
 GEN627R007 
 missense_variant 
 c.2393C>T 
 p.Pro798Leu 
 Familial 
 Maternal 
 Extended multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Deletion-Duplication
 29
 
17
Deletion-Duplication
 20
 
17
Duplication
 8
 
17
Duplication
 1
 
17
Duplication
 3
 
17
Deletion-Duplication
 5
 
17
Duplication
 1
 
17
Duplication
 1
 

Model Summary

Increased or decreased expression of Nlgn2 in rat changes aggression, response to novelty and social behavior.

References

Type
Title
Author, Year
Primary
Hippocampal neuroligin-2 overexpression leads to reduced aggression and inhibited novelty reactivity in rats.

R_NLGN2_1_OE

Model Type: Genetic
Model Genotype: Transgenic
Mutation: Injection with vector carrying Nlgn2-overexpressing construct.
Allele Type: Transgenic
Strain of Origin: Not Specified
Genetic Background: Wistar
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Charles River

R_NLGN2_1_OE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Aggression1
Decreased
Description: Decreased aggression
Exp Paradigm: Resident-intruder test
 Resident-intruder test
 Unreported
Object recognition memory1
Decreased
Description: Decreased novel object exploration
Exp Paradigm: Novel object recognition test
 Novel object recognition test
 Unreported
Targeted expression1
Increased
Description: Increased expression of Nlgn2 in hippocampus
Exp Paradigm: Quantitative PCR (qRT-PCR)
 Quantitative pcr (qrt-pcr)
 Unreported
Social approach1
 No change
 Three-chamber social approach test
 Unreported
Social memory1
 No change
 Three-chamber social approach test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory





Download NLGN2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
B3GAT3 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 O94766 IP; LC-MS/MS
Huttlin EL , et al. 2015
CLU clusterin 1191 P10909 IP; LC-MS/MS
Huttlin EL , et al. 2015
DKKL1 dickkopf-like 1 NM_014419 Q9UK85 IP; LC-MS/MS
Huttlin EL , et al. 2015
HTR3A 5-hydroxytryptamine receptor 3A 3359 P46098-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
LYZL2 Lysozyme-like protein 2 119180 Q7Z4W2-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
NLGN3 neuroligin 3 54413 D3DVV1 IP; LC-MS/MS
Huttlin EL , et al. 2015
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 7903 Q92187 IP; LC-MS/MS
Huttlin EL , et al. 2015
SUSD4 Sushi domain-containing protein 4 Q5VX71-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TTC5 tetratricopeptide repeat domain 5 91875 Q86T04 IP; LC-MS/MS
Huttlin EL , et al. 2015
NLGN3 neuroligin 3 245537 Q8BYM5 IP/WB
Budreck EC and Scheiffele P 2007
NRXN1 neurexin 1 18189 Q9CS84 IP; LC-MS/MS
Traunmller L , et al. 2016
SPARCL1 SPARC-like 1 13602 P70663 IP/WB; Cell surface binding assay
Singh SK , et al. 2016
Iqsec3 IQ motif and Sec7 domain 3 404781 Q76M68 IP/WB
Um JW , et al. 2016
NRXN1 neurexin 1 60391 Q63373 IP; LC-MS/MS
Savas JN , et al. 2015
NRXN1 neurexin 1 60391 Q63373 Affinity chromatography
Ichtchenko K , et al. 1996
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 252857 Q9Z1C7 IP/WB
Woolfrey KM , et al. 2009

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