NRXN1 - neurexin 1 Gene

Homo sapiens

Also known as PTHSL2; SCZD17; Hs.22998

Gene ID: 9378 | Gene type: protein coding

About NRXN1

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:49,918,503-51,032,132 (from NCBI)

This gene has 65 transcripts (splice variants), 238 orthologues, 35 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 12.7) and testis (RPKM 0.6).

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. [provided by RefSeq, Aug 2016]

NRXN1 Products(25)

mRNA	Protein	Name
NM_001135659.3	NP_001129131.1	neurexin-1 isoform alpha2 precursor
NM_001320156.4	NP_001307085.1	neurexin-1 isoform gamma1
NM_001320157.4	NP_001307086.1	neurexin-1 isoform gamma2
NM_001330077.2	NP_001317006.1	neurexin-1 isoform alpha3 precursor
NM_001330078.2	NP_001317007.1	neurexin-1 isoform alpha4 precursor
NM_001330079.2	NP_001317008.1	neurexin-1 isoform 6 precursor
NM_001330081.2	NP_001317010.1	neurexin-1 isoform 7 precursor
NM_001330082.2	NP_001317011.1	neurexin-1 isoform alpha5 precursor
NM_001330083.2	NP_001317012.1	neurexin-1 isoform alpha6 precursor
NM_001330084.2	NP_001317013.1	neurexin-1 isoform alpha7 precursor
NM_001330085.2	NP_001317014.1	neurexin-1 isoform alpha8 precursor
NM_001330086.2	NP_001317015.1	neurexin-1 isoform alpha9 precursor
NM_001330087.2	NP_001317016.1	neurexin-1 isoform alpha10 precursor
NM_001330088.2	NP_001317017.1	neurexin-1 isoform alpha11 precursor
NM_001330089.2	NP_001317018.1	neurexin-1 isoform 8 precursor
NM_001330090.2	NP_001317019.1	neurexin-1 isoform 9 precursor
NM_001330091.2	NP_001317020.1	neurexin-1 isoform beta2
NM_001330092.2	NP_001317021.1	neurexin-1 isoform beta3
NM_001330093.2	NP_001317022.1	neurexin-1 isoform alpha12 precursor
NM_001330094.2	NP_001317023.1	neurexin-1 isoform alpha13 precursor
NM_001330095.2	NP_001317024.1	neurexin-1 isoform alpha14 precursor
NM_001330096.2	NP_001317025.1	neurexin-1 isoform alpha15 precursor
NM_001330097.2	NP_001317026.1	neurexin-1 isoform beta4
NM_004801.6	NP_004792.1	neurexin-1 isoform alpha1 precursor
NM_138735.5	NP_620072.1	neurexin-1 isoform beta1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11152476	GOA
enables type 1 fibroblast growth factor receptor binding	IDA IDA: Inferred from direct assay	22750515	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	26078884	GOA
NOT involved in neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	19896112	GOA
involved in neuron projection development	IGI IGI: Inferred from genetic interaction	22750515	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	22750515	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of protein kinase A signaling	IDA IDA: Inferred from direct assay	26078884	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in vocal learning	IMP IMP: Inferred from mutant phenotype	19896112	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	21424692	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NRXN1 Protein Structure

Laminin_G_2

Syndecan

0
300
600
900
1200
1477 a.a.

Protein Preferred Names

Protein Names

neurexin-1

neurexin I

Related Diseases

Diseases

Alias

Chromosome 2p16.3 Deletion Syndrome

Schizophrenia 17	Schizophrenia, Susceptibility To, 17
SCZD17	Schizophrenia Susceptibility Locus Chromosome 2p16-Related
Schizophrenia, Type 17

Pitt-Hopkins-Like Syndrome 2

PTHSL2	Mesh
D006985	Mesh
D008607

Hyperopia, High

Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Pitt-Hopkins-Like Syndrome

Pitt-Hopkins Syndrome

PTHS	Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
Mental Retardation, Syndromal, With Intermittent Hyperventilation	Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
Pitt Hopkins Syndrome	Phs
Encephalopathy Severe Epileptic With Autonomic Dysfunction

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Pitt-Hopkins-Like Syndrome 1

Cortical Dysplasia-Focal Epilepsy Syndrome	CDFES
PTHSL1	Cdfe Syndrome
Pitt-Hopkins Like Syndrome 1	Pitt-Hopkins-Like Syndrome-1
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cntnap2-Related Dee
Mesh	D006985
Mesh	D008607

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Schizoaffective Disorder

Schizo-Affective Psychosis	Schizo-Affective Type Schizophrenia
Schizoaffective Psychosis	Schizoaffective Schizophrenia
Schizophrenia, Schizo-Affective Type	Schizophreniform Psychosis, Affective Type

Astigmatism

Tic Disorder

Tics	Behavioral Tic

Childhood Disintegrative Disease

Childhood Disintegrative Disorder	Disintegrative Psychosis
Heller'S Syndrome	Symbiotic Psychosis
Dementia Infantilis	Heller Syndrome
Shared Paranoid Disorder

Tardive Dyskinesia

Drug-Induced Tardive Dyskinesia	Lingual-Facial-Buccal Dyskinesia
Neuroleptic-Induced Tardive Dyskinesia

Echolalia

Schizophrenia 18

SCZD18	Schizophrenia 18 With Or Without An Affective Disorder
Schizophrenia Susceptibility 18	Chromosome 7q36.3 Duplication Syndrome, 362-Kb
Schizophrenia, Type 18

Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome	22q13.3 Deletion Syndrome
Telomeric 22q13 Monosomy Syndrome	PHMDS
Deletion 22q13 Syndrome	22q13.3 Deletion
Deletion 22q13.3 Syndrome	Monosomy 22q13
Monosomy 22q13.3	22q13 Deletion Syndrome
Monosomy 22q13 Syndrome	22q13 Deletion
Chromosome Deletion

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Specific Developmental Disorder

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Atypical Autism

Pdd

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Constipation

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder	Tic Disorders
Tic Disorder	Tic Disorder Nos
Tic Nos	Tic Spasm Nos

Gilles De La Tourette Syndrome

Tourette Syndrome	Tourette Disorder
GTS	Ts
Gilles De La Tourette'S Syndrome	Motor-Verbal Tic Disorder
Guinon'S Disease	Psychogenic Tics
Tourette'S Syndrome	Chronic Motor And Vocal Tic Disorder
Td	Tourette'S Disease
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]	Combined Vocal And Multiple Motor Tic Disorder
Tic De La Tourette

Schizophreniform Disorder

Schizophreniform Disorders

Psychotic Disorders

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9q34.3 Deletion Syndrome	9qstds
Chromosome 9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Timothy Syndrome

Long Qt Syndrome With Syndactyly	TS
Lqt8	Long Qt Syndrome 8
Long Qt Syndrome Type 8	Long Qt Syndrome-Syndactyly Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Specific Language Impairment

Language Impairment, Specific

Chromosomal Deletion Syndrome

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Disease Of Mental Health

Mental Health

Mental Disorders

Tobacco Addiction

Nicotine Dependence	Tobacco Addiction, Susceptibility To
Nicotine Addiction	Tobacco Use Disorder
Smoking Habit	Nicotine Dependence, Protection Against
Nicotine Addiction, Protection From	Cigarette Habituation
Cigarette Habituation, Susceptibility To	Smoking Habit, Susceptibility To
Nicotine Dependence, Susceptibility To	Nicotine Addiction, Susceptibility To
Addiction, Tobacco, Susceptibility To	Compulsive Tobacco User Syndrome
Tobacco Dependence	Tobacco Dependence Syndrome
Cigarette Addiction	Cigarette Dependence
Smoking Addiction	Smokers Syndrome

Speech Disorder

Speech Disorders

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Mowat-Wilson Syndrome

MOWS	Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
Hirschsprung Disease-Mental Retardation Syndrome	Mowat-Wilson Syndrome Due To Monosomy 2q22
Hirschsprung Disease Mental Retardation Syndrome	Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
Hirschsprung Disease - Intellectual Disability Syndrome	Hirschsprung Disease Intellectual Disability Syndrome
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease	Mws
Hirschsprung Disease-Intellectual Disability Syndrome	Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)	Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
Mowat-Wilson Syndrome Due To 2q22 Microdeletion	Mowat-Wilson Syndrome Due To Del(2)Q(22)
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Syndromic Intellectual Disability

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09583	NRXN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NRXN1	MGD	MGI:1096391
Canis familiaris	NRXN1	VGNC	VGNC:108210
Macaca mulatta	NRXN1	VGNC	VGNC:106190
Rattus norvegicus	NRXN1	RGD	RGD:628659