SHANK3 - SH3 and multiple ankyrin repeat domains 3 Gene

中文名称：SH3 和多个锚蛋白重复结构域 3

种属: Homo sapiens

同用名: PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3

基因 ID: 85358 | 基因类型: protein coding

关于 SHANK3

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,672,823-50,733,212 (from NCBI)

This gene has 12 transcripts (splice variants), 279 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues.

功能概要

该基因是 Shank 基因家族的成员。柄蛋白是突触后密度的多结构域支架蛋白，可将神经递质受体、离子通道和其他膜蛋白连接到肌动蛋白细胞骨架和 G 蛋白偶联信号通路。柄蛋白还在突触形成和树突棘成熟中发挥作用。该基因的突变是自闭症谱系障碍 (ASD) 的一个原因，其特征是社交互动和沟通障碍，以及行为模式和兴趣受限。该基因的突变也会导致 15 型精神分裂症，并且是 22q13.3 缺失综合征 (也称为 Phelan-McDermid 综合征) 神经系统症状的主要致病因素。已经描述了该基因的其他亚型，但尚未通过实验验证。[RefSeq 提供，2012 年 3 月]

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and Other membrane proteins to the actin Cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]

SHANK3 基因产物(1)

mRNA	Protein	Name
NM_001372044.2	NP_001358973.1	SH3 and multiple ankyrin repeat domains protein 3

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	17474147	GOA

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	17173049	GOA
involved in learning	IMP IMP: 通过突变表型推断	17173049	GOA
involved in social behavior	IMP IMP: 通过突变表型推断	17173049	GOA
involved in vocal learning	IMP IMP: 通过突变表型推断	17173049	GOA
involved in vocalization behavior	IMP IMP: 通过突变表型推断	17173049	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

SHANK3 蛋白结构

Ank_2

SH3_2

PDZ

SAM_1

0
300
600
900
1200
1500
1747 a.a.

蛋白主名

其他名称

SH3 and multiple ankyrin repeat domains protein 3

proline rich synapse associated protein 2

SHANK3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SHANK3	Q9BYB0	DPYSL2	Homo sapiens	Q16555	Anti Bait CoIP	36950384
种属内	SHANK3	Q9BYB0	EIF3G	Homo sapiens	O75821	Anti Bait CoIP	36950384
种属内	SHANK3	Q9BYB0	NCK1	Homo sapiens	P16333	Peptide Array	17474147
种属内	SHANK3	Q9BYB0	GRB2	Homo sapiens	P62993	Peptide Array	17474147
种属内	SHANK3	Q9BYB0	GRB2	Homo sapiens	P62993	Y2H	21988832
种属内	SHANK3	Q9BYB0	CHCHD3	Homo sapiens	Q9NX63	Anti Bait CoIP	36950384
种属内	SHANK3	Q9BYB0	PLCG1	Homo sapiens	P19174	Fluorescence	17474147
种属内	SHANK3	Q9BYB0	MAP1A	Homo sapiens	P78559	Anti Bait CoIP	36950384

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Schizophrenia 15

SCZD15	Schizophrenia 15 With Or Without An Affective Disorder
Schizophrenia Susceptibility Locus, Chromosome 22q13-Related	Schizophrenia Susceptibility Locus Chromosome 22q13-Related
Schizophrenia, Type 15

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

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Mutism

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

Autism

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

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Schizophrenia

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

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

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-163345	5-HT7R antagonist 2	Antagonist	/	否
HY-P10106	TAT-PAK18 inhibitory peptide	Inhibitor	/	否
HY-RS12852	SHANK3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SHANK3	RGD	RGD:69264
Bos taurus	SHANK3	VGNC	VGNC:34586
Mus musculus	SHANK3	MGD	MGI:1930016
Macaca mulatta	SHANK3	VGNC	VGNC:98444

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SHANK3 - SH3 and multiple ankyrin repeat domains 3 Gene

关于 SHANK3

功能概要

SHANK3 基因产物(1)

SHANK3 蛋白结构

SHANK3 蛋白互作信息

关联疾病

直系同源

热门区域

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SHANK3 - SH3 and multiple ankyrin repeat domains 3 Gene

关于 SHANK3

功能概要

SHANK3 基因产物(1)

SHANK3 蛋白结构

SHANK3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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Z