Property Summary

NCBI Gene PubMed Count 49
PubMed Score 50.63
PubTator Score 41.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Gene RIF (34)

PMID Text
25675530 Endogenous NLGN4X is intensely phosphorylated on T707 upon PKC stimulation in human neurons.
24570023 Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population.
23851596 The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder.
23710042 In vitro models show NLGN4X knockdown directly impacts neurodevelopmental process during the formation of neurons and their connections.
23468870 Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
23431752 Neuroligins are adhesion proteins that bind to beta-neurexin to form functional synapses.
22948383 Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints.
21278334 The autism-associated DeltaE4 mutation in NLGN4 compromises the ability of NLGN4 to localize correctly to the cell surface when overexpressed and to induce synaptic differentiation.
20714171 results indicate that the genetic variants located in NLGN4 can affect the cognitive abilities of boys.
20714171 Observational study of gene-disease association. (HuGE Navigator)
20543817 Results suggest that unique conformational reshaping of the neuroligin 4 surface is required to permit neurexin 1beta association.
20436377 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19726642 Two brothers with classical autism spectrum disorder carry a single amino-acid substitution in neuroligin 4 (Arg87Trp). The substitution is absent from the brothers' asymptomatic parents, suggesting that it arose in the maternal germ line.
19645625 finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism
19645625 Observational study of gene-disease association. (HuGE Navigator)
19598235 NLGN4X gene is associated with autistic traits, empathy, and Asperger syndrome.
19598235 Observational study of gene-disease association. (HuGE Navigator)
19545860 This study indicated that the phenotypic spectrum of NLGN4X mutations and overexpressed NLGN4X transcript is associated with autism and nonsyndromic mental profound mental retardation.
19125102 The results suggest a positive association between the genetic variants of the NLGN4 and NSMR in the Chinese children from Qinba Mountains Region.
19125102 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
18628683 Observational study of gene-disease association. (HuGE Navigator)
18231125 NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms
18189281 no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level
18189281 Observational study of gene-disease association. (HuGE Navigator)
17292328 Syntrophin-gamma2 (SNTG2) is a de novo binding partner of X-linked neuroligin 4, which correlates with autism-related mutations.
16648374 Splice variants of the NLGN4 gene are associated with autism.
16508939 Data indicate that coding mutations in neuroligin 4 are very rarely associated to autism spectrum disorders.
16077734 Neuroligin mutations most probably represent rare causes of autism; it is unlikely that the allelic variants in any of these genes would be major risk factors for autism.
15622415 Scanning and sequencing of 2.5Mb of the NLGN4 genes reveals an association of NLGN4 structural variants at highly conserved amino acids with an estimated attributable risk for autism of about 3% in the cohorts studies.
15389766 Observational study of genotype prevalence. (HuGE Navigator)
15274046 Observational study of genotype prevalence. (HuGE Navigator)
12669065 report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders

AA Sequence

MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQYPVVNTNYGKIRGLRTPLPNEILGPV      1 - 70
EQYLGVPYASPPTGERRFQPPEPPSSWTGIRNTTQFAAVCPQHLDERSLLHDMLPIWFTANLDTLMTYVQ     71 - 140
DQNEDCLYLNIYVPTEDDIHDQNSKKPVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITINYRLGILGF    141 - 210
LSTGDQAAKGNYGLLDQIQALRWIEENVGAFGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKAIIQS    211 - 280
GTALSSWAVNYQPAKYTRILADKVGCNMLDTTDMVECLRNKNYKELIQQTITPATYHIAFGPVIDGDVIP    281 - 350
DDPQILMEQGEFLNYDIMLGVNQGEGLKFVDGIVDNEDGVTPNDFDFSVSNFVDNLYGYPEGKDTLRETI    351 - 420
KFMYTDWADKENPETRRKTLVALFTDHQWVAPAVATADLHAQYGSPTYFYAFYHHCQSEMKPSWADSAHG    421 - 490
DEVPYVFGIPMIGPTELFSCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDTKFIHTKPNRFEEVAWS    491 - 560
KYNPKDQLYLHIGLKPRVRDHYRATKVAFWLELVPHLHNLNEIFQYVSTTTKVPPPDMTSFPYGTRRSPA    561 - 630
KIWPTTKRPAITPANNPKHSKDPHKTGPEDTTVLIETKRDYSTELSVTIAVGASLLFLNILAFAALYYKK    631 - 700
DKRRHETHRRPSPQRNTTNDIAHIQNEEIMSLQMKQLEHDHECESLQAHDTLRLTCPPDYTLTLRRSPDD    701 - 770
IPLMTPNTITMIPNTLTGMQPLHTFNTFSGGQNSTNLPHGHSTTRV                            771 - 816
//

Text Mined References (50)

PMID Year Title
25675530 2015 Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24570023 2014 Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.
23851596 2013 Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.
23710042 2013 The functional genetic link of NLGN4X knockdown and neurodevelopment in neural stem cells.
23468870 2013 Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
23431752 2012 Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism.
22948383 2012 Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.
21278334 2011 Investigating synapse formation and function using human pluripotent stem cell-derived neurons.
20714171 2010 Gender differences in cognitive ability associated with genetic variants of NLGN4.
20543817 2010 Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions.
20436377 2010 Polymorphisms of candidate genes in Slovak autistic patients.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19726642 2009 A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.
19645625 2009 A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
19545860 2009 Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.
19125102 2009 Positive association of neuroligin-4 gene with nonspecific mental retardation in the Qinba Mountains Region of China.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
18923512 2008 Neuroligins and neurexins link synaptic function to cognitive disease.
18628683 2008 Analysis of the neuroligin 4Y gene in patients with autism.
18231125 2008 Familial deletion within NLGN4 associated with autism and Tourette syndrome.
18227507 2008 Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.
18189281 2008 No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level.
18093521 2007 Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17292328 2007 Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16648374 2006 Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.
16508939 2006 Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.
16377159 2006 Screening for Neuroligin 4 (NLGN4) truncating and transmembrane domain mutations in schizophrenia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16077734 2005 Analysis of four neuroligin genes as candidates for autism.
15622415 2005 Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients.
15620359 2004 Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15389766 2005 NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.
15340161 2004 Signal peptide prediction based on analysis of experimentally verified cleavage sites.
15274046 2004 Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
15150161 2004 Disorder-associated mutations lead to functional inactivation of neuroligins.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14963808 2004 X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12669065 2003 Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11368788 2001 Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression.
10996085 2000 Synapse formation: if it looks like a duck and quacks like a duck ....
10574462 1999 Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9278515 1997 Binding of neuroligins to PSD-95.