SHANK2 - SH3 and multiple ankyrin repeat domains 2 Gene

中文名称：SH3 和多个锚蛋白重复结构域 2

种属: Homo sapiens

同用名: SHANK; AUTS17; CORTBP1; CTTNBP1; ProSAP1; SPANK-3

基因 ID: 22941 | 基因类型: protein coding

关于 SHANK2

Cytogenetic location: 11q13.3-q13.4 Genomic coordinates (GRCh38): 11:70,467,854-71,253,228 (from NCBI)

This gene has 22 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 4.2), kidney (RPKM 2.6) and 18 other tissues.

功能概要

该基因编码的蛋白质是突触蛋白 Shank 家族的一员，可在兴奋性突触的突触后密度中充当分子支架。柄蛋白包含用于蛋白质-蛋白质相互作用的多个结构域，包括锚蛋白重复序列和 SH3 结构域。这个特殊的家族成员包含一个 PDZ 结构域、cortactin SH3 结构域结合肽的共有序列和一个不育的 alpha 基序。在 Shank 基因中证明的可变剪接被认为是一种机制，用于调节 Shank 的分子结构和成人和发育中大脑突触后密度中 Shank 相互作用蛋白的范围。编码蛋白的改变可能与自闭症谱系障碍的易感性有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding Peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SHANK2 基因产物(3)

mRNA	Protein	Name
NM_001379226.1	NP_001366155.1	SH3 and multiple ankyrin repeat domains protein 2 isoform 3
NM_012309.5	NP_036441.2	SH3 and multiple ankyrin repeat domains protein 2 isoform 1
NM_133266.5	NP_573573.2	SH3 and multiple ankyrin repeat domains protein 2 isoform 2

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	11583995	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	20473310	GOA
involved in learning	IMP IMP: 通过突变表型推断	20473310	GOA
involved in negative regulation of hippo signaling	IMP IMP: 通过突变表型推断	32661924	GOA
involved in positive regulation of cell population proliferation	IMP IMP: 通过突变表型推断	32661924	GOA
involved in social behavior	IMP IMP: 通过突变表型推断	20473310	GOA
involved in vocalization behavior	IMP IMP: 通过突变表型推断	20473310	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

SHANK2 蛋白结构

SH3_2

PDZ

SAM_1

0
300
600
900
1200
1470 a.a.

蛋白主名

其他名称

SH3 and multiple ankyrin repeat domains protein 2

GKAP/SAPAP interacting protein

SHANK2 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	SHANK2	Q9UPX8	PLCG1	Homo sapiens	P19174	Fluorescence	17474147
种属内	SHANK2	Q9UPX8	PLCG1	Homo sapiens	P19174	Peptide Array	17474147
种属内	SHANK2	Q9UPX8	PIK3R1	Homo sapiens	P27986	Peptide Array	17474147
种属内	SHANK2	Q9UPX8	CRK	Homo sapiens	P46108	Peptide Array	17474147

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

Autism 17

Autism, Susceptibility To, 17	AUTS17
Autism Susceptibility 17	Autism, Susceptibility To, Type 17

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

Pervasive Developmental Disorder

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

Autism

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

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

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

Atypical Autism

Pdd

Childhood Disintegrative Disease

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

Chromosomal Deletion Syndrome

Deafness, Autosomal Recessive 63

DFNB63	Autosomal Recessive Nonsyndromic Deafness 63
Autosomal Recessive Deafness 63	Deafness, Autosomal Recessive, 63
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63
Deafness, Autosomal Recessive, Type 63

Timothy Syndrome

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

Gene Duplication Disease

Gene Duplication Syndrome

Tic Disorder

Tics	Behavioral Tic

Specific Developmental Disorder

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

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

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Schizophrenia

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

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12851	SHANK2 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	SHANK2	RGD	RGD:628772
Macaca mulatta	SHANK2	VGNC	VGNC:101396
Bos taurus	SHANK2	VGNC	VGNC:56279
Mus musculus	SHANK2	MGD	MGI:2671987
Felis catus	SHANK2	VGNC	VGNC:81940
Canis familiaris	SHANK2	VGNC	VGNC:52045

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

SHANK2 - SH3 and multiple ankyrin repeat domains 2 Gene

关于 SHANK2

功能概要

SHANK2 基因产物(3)

SHANK2 蛋白结构

SHANK2 蛋白互作信息

关联疾病

直系同源

热门区域

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SHANK2 - SH3 and multiple ankyrin repeat domains 2 Gene

关于 SHANK2

功能概要

SHANK2 基因产物(3)

SHANK2 蛋白结构

SHANK2 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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