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| 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 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 |
| Abstract : Parente_2017_Am.J.Med.Genet.A_173_213 |
| ESTHER : Parente_2017_Am.J.Med.Genet.A_173_213 |
| PubMedSearch : Parente_2017_Am.J.Med.Genet.A_173_213 |
| PubMedID: 27865048 |
| 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 |