2. Gene
  3. CNTN4 - contactin 4 Gene

CNTN4 - contactin 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：联系方式 4

种属: Homo sapiens

同用名: AXCAM; BIG-2

基因 ID: 152330 | 基因类型: protein coding

关于 CNTN4

Cytogenetic location: 3p26.3-p26.2 Genomic coordinates (GRCh38): 3:2,098,866-3,057,959 (from NCBI)

This gene has 17 transcripts (splice variants), 209 orthologues and 36 paralogues. Broad expression in endometrium (RPKM 2.7), thyroid (RPKM 2.4) and 21 other tissues.

功能概要

该基因编码免疫球蛋白接触蛋白家族的一个成员。接触蛋白是轴突相关细胞粘附分子，在神经元网络形成和可塑性中发挥作用。编码的蛋白质是糖基磷脂酰肌醇锚定的神经元膜蛋白，可能在发育中的神经系统中轴突连接的形成中发挥作用。该基因的缺失或突变可能在 3p 缺失综合征和自闭症谱系障碍中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 5 月]

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

CNTN4 基因产物(5)

mRNA Protein Name
NM_001206955.2 NP_001193884.1 contactin-4 isoform a precursor
NM_001206956.2 NP_001193885.1 contactin-4 isoform d
NM_001350095.2 NP_001337024.1 contactin-4 isoform a precursor
NM_175607.3 NP_783200.1 contactin-4 isoform a precursor
NM_175613.3 NP_783302.1 contactin-4 isoform c
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 negative regulation of neuron differentiation IMP
IMP: 通过突变表型推断
14571131 GOA
involved in nervous system development IMP
IMP: 通过突变表型推断
15106122 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

CNTN4 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (41 - 115)

I-set

I-set: Immunoglobulin I-set domain (130 - 202)

I-set

I-set: Immunoglobulin I-set domain (230 - 311)

I-set

I-set: Immunoglobulin I-set domain (318 - 401)

I-set

I-set: Immunoglobulin I-set domain (409 - 494)

Ig_2

Ig_2: Immunoglobulin domain (504 - 581)

fn3

fn3: Fibronectin type III domain (599 - 686)

fn3

fn3: Fibronectin type III domain (804 - 889)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1026 a.a.
蛋白主名 其他名称

contactin-4

axonal-associated cell adhesion molecule

重组 CNTN4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76277 CNTN4/Contactin-4 Protein, Human (sf9, His) Q8IWV2-1 (D19-S1000) ≥95%

关联疾病

疾病名称 别名
Chromosome 3pter-P25 Deletion Syndrome

3p- Syndrome

3p Deletion Syndrome

Distal Monosomy 3p

Chromosome 3, Monosomy 3p

3p Partial Monosomy Syndrome

Chromosome 3, Deletion 3p

Chromosome 3p Deletion Syndrome

Del Syndrome

Deletion 3p

Monosomy 3p

Partial Monosomy 3p

Distal 3p Deletion

Monosomy 3pter

Telomeric Monosomy 3p

Chromosome Deletion Syndrome 3pter-P25
Cerebellar Angioblastoma

Hemangioblastoma Of Cerebellum

Cerebellar Hemangioblastoma
Coffin-Siris Syndrome 6

CSS6

Coffin-Siris Syndrome, Type 6
Spinocerebellar Ataxia 15

SCA15

Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia Type 16

Sca16

Spinocerebellar Ataxia Type 15/16

Spinocerebellar Ataxia 16, Formerly

Sca16, Formerly

Spinocerebellar Ataxia 16

Sca15/16

Ataxia, Spinocerebellar, Type 15
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Spinocerebellar Ataxia 25

Spinocerebellar Ataxia Type 25

SCA25
Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome

16p11.2 Deletion Syndrome

Del(16)(P11.2)

Microdeletion 16p11.2

Monosomy 16p11.2

Autism, Susceptibility To, 14a

Auts14a

Distal Del(16)(P11.2)

Distal Monosomy 16p11.2
Spinocerebellar Ataxia 21

Spinocerebellar Ataxia Type 21

SCA21

Ataxia, Spinocerebellar, Type 21
Chromosome 15q11.2 Deletion Syndrome

15q11.2 Microdeletion Syndrome

15q11.2 Bp1-Bp2 Microdeletion Syndrome

Del(15)(Q11.2)

Monosomy 15q11.2

15q11.2 Microdeletion

Chromosome 15q11.2 Deletion

Chromosome 15q11.2 Microdeletion

Chromosome Deletion Syndrome 15q11.2

Microdeletion 15q11.2

Duplication 15q11-Q13 Syndrome
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
Chromosomal Deletion Syndrome
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
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
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS18992 Cntn4 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS02929 CNTN4 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25481 Cntn4 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CNTN4 VGNC VGNC:52754
Mus musculus CNTN4 MGD MGI:1095737
Rattus norvegicus CNTN4 RGD RGD:621361
Canis familiaris CNTN4 VGNC VGNC:39435
Macaca mulatta CNTN4 VGNC VGNC:84198
Felis catus CNTN4 VGNC VGNC:78408
Others CNTN4 NCBI
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