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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
小鼠
Col4a2 - collagen, type IV, alpha 2
Alias:
Col4a-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码IV型胶原的α-2亚基,基底膜的重要组成部分。编码的蛋白质形成一个由α-1和α-2亚基组成的三重螺旋异源三聚体,组装成IV型胶原网络。Canstatin是一种来自胶原链C-末端的肽,是一种已经证明可以抑制血管生成的matrikine。这个基因的纯合子敲除小鼠基底膜完整性受损,胚胎致死。这个基因与染色体8上的一个相关基因共享一个双向启动子。[RefSeq,2015年11月提供]
Related ID:
NCBI:12827
ENSEMBL:ENSMUSG00000031503
UNIPROT:P08122
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12827
1
48
136483 bp
167.32
8
14
Col4a2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
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