R215H_human-NLGN2

General

Gene Locus : human-NLGN2

Mode of mutation : Natural mutant

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

Summary : Natural mutation loss-of-function - endoplasmic reticulum retension - incomplete penetrance Sun_2011_Hum.Mol.Genet_20_3042

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 149

Kinetic Parameter : No kinetic parameter

News : No news

Comment :

References (3)

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
Abstract : Jiang_2018_Mol.Brain_11_31
ESTHER : Jiang_2018_Mol.Brain_11_31
PubMedSearch : Jiang_2018_Mol.Brain_11_31
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
Abstract : Chen_2017_Front.Psychiatry_8_257
ESTHER : Chen_2017_Front.Psychiatry_8_257
PubMedSearch : Chen_2017_Front.Psychiatry_8_257
PubMedID: 29230184
Gene_locus related to this paper: human-NLGN2 , mouse-2neur

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
Abstract : Sun_2011_Hum.Mol.Genet_20_3042
ESTHER : Sun_2011_Hum.Mol.Genet_20_3042
PubMedSearch : Sun_2011_Hum.Mol.Genet_20_3042
PubMedID: 21551456
Gene_locus related to this paper: human-NLGN2