Gene: NRXN1

Alternate names for this Gene: Hs.22998|PTHSL2|SCZD17

Gene Summary: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: neurexin 1

Type of Gene: protein-coding

rs41522849 in NRXN1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11681792 in NRXN1 gene and Alcohol consumption PMID 23942779 2013 A genome-wide association study of behavioral disinhibition.

rs11681792 in NRXN1 gene and Alcohol-Induced Disorders PMID 23942779 2013 A genome-wide association study of behavioral disinhibition.

rs11681792 in NRXN1 gene and Alcohol-Related Disorders PMID 23942779 2013 A genome-wide association study of behavioral disinhibition.

rs11681792 in NRXN1 gene and Alcoholic Intoxication, Chronic PMID 23942779 2013 A genome-wide association study of behavioral disinhibition.

rs12618157 in NRXN1 gene and Amyotrophic Lateral Sclerosis PMID 17362836 2007 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.

rs1553368900 in NRXN1 gene and Autistic behavior PMID 23533028 2013 Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

PMID 22617343 2012 Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

rs10174398 in NRXN1 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs141864436 in NRXN1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs10490175 in NRXN1 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1356888 in NRXN1 gene and Longevity PMID 20834067 2010 Joint influence of small-effect genetic variants on human longevity.

rs10490165 in NRXN1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1476850082 in NRXN1 gene and PITT-HOPKINS-LIKE SYNDROME 2 PMID 19896112 2009 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

PMID 21964664 2011 Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

PMID 25149956 2014 Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.

rs41522849 in NRXN1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10490175 in NRXN1 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs1014667 in NRXN1 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs1014667 in NRXN1 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs2139629 in NRXN1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs6754640 in NRXN1 gene and Temperament PMID 22832960 2012 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.

rs115249811 in NRXN1 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs141864436 in NRXN1 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.