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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
TGFBR3 - Transforming Growth Factor Beta Receptor 3
Alias:
BGCAN
betaglycan
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个位点编码转化生长因子(TGF)-β型III受体。编码的受体是一个膜蛋白多糖,通常作为其他TGF-β受体家族成员的共受体发挥作用。外显子剪接产生可溶性TGFBR3,可能抑制TGFB信号传导。已观察到这种受体在各种癌症中的表达降低。对于此基因,已识别出编码不同异构体的可变剪接转录变体。[由RefSeq提供,2010年9月]
Related ID:
NCBI:7049
ENSEMBL:ENSG00000069702
HGNC:11774
UNIPROT:Q03167
OMIM:600742
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7049
11
17
225660 bp
93.50
47
1
10
8
TGFBR3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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