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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TGFB2 - Transforming Growth Factor Beta 2
Alias:
LDS4
G-TSF
TGF-beta2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因编码一种分泌性的TGF-beta(转化生长因子-beta)超家族蛋白质的配体。这个家族的配体结合各种TGF-beta受体,导致SMAD家族转录因子的招募和激活,从而调控基因表达。编码的前原蛋白在蛋白水解过程中被加工成一种潜伏相关肽(LAP)和一种成熟肽,并以潜伏形式存在,由成熟肽同二聚体、LAP同二聚体和潜伏TGF-beta结合蛋白组成,或者以活性形式存在,仅由成熟肽同二聚体组成。成熟肽还可以与其他TGF-beta家族成员形成异二聚体。TGF-beta/SMAD途径的破坏与多种人类癌症有关。包括这个基因的染色体易位与Peters异常有关,这是一种先天性眼前房缺陷。这个基因的突变可能与Loeys-Dietz综合征有关。这个基因编码多种可能经历类似蛋白水解加工的异构体。[由RefSeq,2016年8月提供]
Related ID:
NCBI:7042
ENSEMBL:ENSG00000092969
HGNC:11768
UNIPROT:P61812
OMIM:190220
Basic Information
NCBI
Transcripts
Exons
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MW (kDa)
Mutations
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Reference
7042
2
7
99284 bp
47.75
576
5
6
16
TGFB2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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