Property Summary

NCBI Gene PubMed Count 112
PubMed Score 117.22
PubTator Score 117.90

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P58400
Symbols PTHSL2
SCZD17
Hs.22998

Gene

PDB

3B3Q  

Gene RIF (77)

PMID Text
26785044 NRXN1 has an affinity for binding to LRRTM2 in hippocampal synapses.
26590955 Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
26410934 The role of NRXN1 in in paranoid schizophrenia development in Russians.
26279266 heterozygous inactivation of NRXN1 directly impairs synaptic function in human neurons.
26078884 Results indicate that the neurexin and neuroligin synaptic complex is intrinsically involved in the regulation of DISC1 function, thus contributing to a better understanding of the pathology of schizophrenia.
25943950 Study suggests a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation
25710691 The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.
25486015 A further patient with a biallelic homozygous deletion in NRXN1 is reported here.
25450229 The rare variants in NRXN1 were significantly associated with smoking status.
25399301 Increasing expression of TGF-beta1 protein, decreasing expressions of Ghrelin, Neurexin, and Neuroligin proteins can induce the loss or dysfunction of ganglion cells in distal intestinal canal
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AA Sequence

MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIHHFHGSSKHHS      1 - 70
VPIAIYRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLG     71 - 140
DYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTI    141 - 210
FNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQS    211 - 280
EMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTRAGGRE    281 - 350
PYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKE    351 - 420
KQPSSAKSSNKNKKNKDKEYYV                                                    421 - 442
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Text Mined References (112)

PMID Year Title
26785044 2016 Crystal Structure of an Engineered LRRTM2 Synaptic Adhesion Molecule and a Model for Neurexin Binding.
26590955 2016 Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
26410934 2015 [The Role of Neurotrophins and Neurexins Genes in the Risk of Paranoid Schizophrenia in Russians and Tatars].
26279266 2015 Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
26078884 2015 Neurexin-Neuroligin Synaptic Complex Regulates Schizophrenia-Related DISC1/Kal-7/Rac1 "Signalosome".
25943950 Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.
25737549 2015 Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators.
25710691 2015 [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].
25486015 2015 A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.
25450229 2015 The contribution of rare and common variants in 30 genes to risk nicotine dependence.
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