Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesity

Alternative name(s) :

Gene_locus : human-NLGN2

Mutation : 2 mutations R215H_human-NLGN2 Y147X_human-NLGN2

OMIM : 606479

Comment
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

References (4)

Title : GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation - Jiang_2018_Mol.Brain_11_31
Author(s) : Jiang DY , Wu Z , Forsyth CT , Hu Y , Yee SP , Chen G
Ref : Mol Brain , 11 :31 , 2018
PubMedID: 29859117
Gene_locus related to this paper: human-NLGN2

Title : Neuroligin 2 R215H Mutant Mice Manifest Anxiety, Increased Prepulse Inhibition, and Impaired Spatial Learning and Memory - Chen_2017_Front.Psychiatry_8_257
Author(s) : Chen CH , Lee PW , Liao HM , Chang PK
Ref : Front Psychiatry , 8 :257 , 2017
PubMedID: 29230184
Gene_locus related to this paper: human-NLGN2 , mouse-2neur

Title : Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity - Parente_2017_Am.J.Med.Genet.A_173_213
Author(s) : Parente DJ , Garriga C , Baskin B , Douglas G , Cho MT , Araujo GC , Shinawi M
Ref : American Journal of Medicine Genet A , 173 :213 , 2017
PubMedID: 27865048
Gene_locus related to this paper: human-NLGN2

Title : Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia - Sun_2011_Hum.Mol.Genet_20_3042
Author(s) : Sun C , Cheng MC , Qin R , Liao DL , Chen TT , Koong FJ , Chen G , Chen CH
Ref : Hum Mol Genet , 20 :3042 , 2011
PubMedID: 21551456
Gene_locus related to this paper: human-NLGN2