SNTB2 - syntrophin beta 2 Gene

中文名称：促肌萎缩蛋白 2

种属: Homo sapiens

同用名: SNT3; SNTL; SNT2B2; EST25263; D16S2531E

基因 ID: 6645 | 基因类型: protein coding

关于 SNTB2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,187,164-69,309,052 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 210 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 7.0), thyroid (RPKM 6.9) and 25 other tissues.

功能概要

抗肌萎缩蛋白是一种大的棒状细胞骨架蛋白，存在于肌纤维的内表面。 Duchenne 肌营养不良症患者中肌营养不良蛋白缺失，而 Becker 肌营养不良症患者中的肌营养不良蛋白含量减少。由该基因编码的蛋白质是一种与抗肌萎缩蛋白和抗肌萎缩蛋白相关蛋白相关的外周膜蛋白。该基因是 syntrophin 基因家族的成员，该家族至少包含两个其他结构相关基因。[RefSeq 提供，2008 年 7 月]

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two Other structurally-related genes. [provided by RefSeq, Jul 2008]

SNTB2 基因产物(1)

mRNA	Protein	Name
NM_006750.4	NP_006741.1	beta-2-syntrophin

基因本体论

分子功能
细胞组分

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	8576247	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	19786618	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	18468998	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

SNTB2 蛋白结构

PDZ

0
100
200
300
400
500
540 a.a.

蛋白主名

其他名称

beta-2-syntrophin

59 kDa dystrophin-associated protein A1 basic component 2

SNTB2 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	SNTB2	Q13425	CASK	Homo sapiens	O14936	Anti Tag CoIP	33961781
种属内	SNTB2	Q13425	CASK	Homo sapiens	O14936	Anti Tag CoIP	25852190
种属内	SNTB2	Q13425	DMD	Homo sapiens	P11532	Anti Tag CoIP	33961781
种属内	SNTB2	Q13425	UTRN	Homo sapiens	P46939	Anti Tag CoIP	33961781
种属内	SNTB2	Q13425	ADRA1D	Homo sapiens	P25100	Far-WB	16533813

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

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19	CMS19
Myasthenic Syndrome, Congenital, Type 19

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Myopathy

Muscular Diseases

Myopathies

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-RS13514	SNTB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	SNTB2	MGD	MGI:101771
Canis familiaris	SNTB2	VGNC	VGNC:46614
Bos taurus	SNTB2	VGNC	VGNC:35084
Rattus norvegicus	SNTB2	RGD	RGD:1592340

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