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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
SMAD7 - SMAD Family Member 7
Alias:
CRCS3
MADH7
MADH8
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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结合E3泛素连接酶SMURF2的核蛋白。在结合后,这个复合物转移到细胞质中,与TGF-beta受体1型(TGFBR1)相互作用,导致编码的蛋白质和TGFBR1的降解。这个基因的表达受到TGFBR1的诱导。这个基因的变异是3型结直肠癌(CRCS3)易感性的原因。已经发现这个基因有几个编码不同异型的转录变异体。[由RefSeq,2010年6月提供]
Related ID:
NCBI:4092
ENSEMBL:ENSG00000101665
HGNC:6773
UNIPROT:O15105
OMIM:602932
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4092
5
4
31113 bp
46.43
34
1
13
25
SMAD7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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References Literature
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No Data Found!
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