1. Gene
  2. NRXN2 - neurexin 2 Gene

NRXN2 - neurexin 2 Gene

中文名称:神经毒素 2

种属: Homo sapiens

基因 ID: 9379 | 基因类型: protein coding

关于 NRXN2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,606,174-64,723,197 (from NCBI)

This gene has 20 transcripts (splice variants), 291 orthologues, 35 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues.

功能概要

该基因编码 neurexin 基因家族的一个成员。这些基因的产物在脊椎动物神经系统中起着细胞粘附分子和受体的作用。这些基因利用两个启动子。大多数转录物由上游启动子产生并编码 alpha-neurexin 亚型,而少量转录物由下游启动子产生并编码 beta-neuresin 亚型。 α-neurexins 包含表皮生长因子样 (EGF 样) 序列和层粘连蛋白 G 结构域,并已显示与 neurexophilins 相互作用。与 alpha-neurexins 相比,beta-neurexins 缺乏类似 EGF 的序列,并且含有更少的层粘连蛋白 G 结构域。可变剪接和替代启动子的使用可能会产生数以千计的转录变体 (PMID:12036300,PMID:11944992) 。[RefSeq 提供,2010 年 6 月]

This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]

NRXN2 基因产物(10)

mRNA Protein Name
NM_001376262.1 NP_001363191.1 neurexin-2-beta isoform 4 precursor
NM_001376263.1 NP_001363192.1 neurexin-2-beta isoform 5 precursor
NM_001376265.1 NP_001363194.1 neurexin-2-beta isoform 7 precursor
NM_001376266.1 NP_001363195.1 neurexin-2-beta isoform 6 precursor
NM_001376267.1 NP_001363196.1 neurexin-2-beta isoform 8 precursor
NM_001400681.1 NP_001387610.1 neurexin-2-beta isoform 9
NM_001400682.1 NP_001387611.1 neurexin-2-beta isoform 10
NM_015080.4 NP_055895.1 neurexin-2-beta isoform alpha-1 precursor
NM_138732.3 NP_620060.1 neurexin-2-beta isoform alpha-2 precursor
NM_138734.3 NP_620063.1 neurexin-2-beta isoform beta precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adult behavior IMP
IMP: 通过突变表型推断
21424692 GOA
involved in social behavior IMP
IMP: 通过突变表型推断
21424692 GOA
involved in vocal learning IMP
IMP: 通过突变表型推断
21424692 GOA
involved in vocalization behavior IMP
IMP: 通过突变表型推断
21424692 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NRXN2 蛋白结构

Laminin_G_2

Laminin_G_2: Laminin G domain (57 - 186)

Laminin_G_2

Laminin_G_2: Laminin G domain (318 - 458)

Laminin_G_2

Laminin_G_2: Laminin G domain (521 - 666)

Laminin_G_2

Laminin_G_2: Laminin G domain (760 - 890)

Laminin_G_2

Laminin_G_2: Laminin G domain (946 - 1074)

Laminin_G_2

Laminin_G_2: Laminin G domain (1169 - 1317)

Syndecan

Syndecan: Syndecan domain (1636 - 1674)

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  • 1712 a.a.
蛋白主名 其他名称

neurexin-2-beta

neurexin II

关联疾病

疾病名称 别名
Pitt-Hopkins-Like Syndrome 2

PTHSL2

Mesh

D006985

Mesh

D008607

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

Childhood Disintegrative Disease

Childhood Disintegrative Disorder

Disintegrative Psychosis

Heller'S Syndrome

Symbiotic Psychosis

Dementia Infantilis

Heller Syndrome

Shared Paranoid Disorder

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

Tic Disorder

Tics

Behavioral Tic

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

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

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

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Specific Developmental Disorder
Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

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
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

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus NRXN2 VGNC VGNC:32271
Felis catus NRXN2 VGNC VGNC:104316
Canis familiaris NRXN2 VGNC VGNC:43979
Rattus norvegicus NRXN2 RGD RGD:620211
Macaca mulatta NRXN2 VGNC VGNC:75534
Mus musculus NRXN2 MGD MGI:1096362