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Disease Report for: Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesity

Alternative name(s)|
Mutation|2 mutations: R215H_human-NLGN2, Y147X_human-NLGN2
OMIM: |606479

R215H loss-of-function mutant. Retention inside the endoplasmic reticulum and inability to be transported to cell membrane. Defects in GABAergic synapse formation. Incomplete penetrance: relevance of this mutation should be interpreted with caution

    Title: GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation
    Jiang DY, Wu Z, Forsyth CT, Hu Y, Yee SP, Chen G
    Ref: Mol Brain, 11:31, 2018 : PubMed


    Title: Neuroligin 2 R215H Mutant Mice Manifest Anxiety, Increased Prepulse Inhibition, and Impaired Spatial Learning and Memory
    Chen CH, Lee PW, Liao HM, Chang PK
    Ref: Front Psychiatry, 8:257, 2017 : PubMed


    Title: Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity
    Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M
    Ref: American Journal of Medicine Genet A, 173:213, 2017 : PubMed


    Title: Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia
    Sun C, Cheng MC, Qin R, Liao DL, Chen TT, Koong FJ, Chen G, Chen CH
    Ref: Hum Mol Genet, 20:3042, 2011 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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