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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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人类
TGFBR2 - Transforming Growth Factor Beta Receptor 2
Alias:
AAT3
FAA3
LDS2
MFS2
RIIC
LDS1B
LDS2B
TAAD2
TBRII
TBR-ii
TGFR-2
tbetaR-II
TGFbeta-RII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种跨膜蛋白质,具有蛋白激酶结构域,与TGF-beta受体1型形成异源二聚体复合物,并结合TGF-beta。这个受体/配体复合物磷酸化蛋白质,然后进入细胞核,调节与细胞增殖、细胞周期停滞、伤口愈合、免疫抑制和肿瘤发生相关的基因的转录。这个基因的突变与马凡综合症、Loeys-Deitz主动脉瘤综合症和多种肿瘤的发生有关。可变剪接转录本变异体已经表征,编码不同的异构体。[由RefSeq提供,2017年8月]
Related ID:
NCBI:7048
ENSEMBL:ENSG00000163513
HGNC:11773
UNIPROT:P37173
OMIM:190182
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7048
16
7
87787 bp
64.57
917
11
14
47
TGFBR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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