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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
Col1a2 - collagen, type I, alpha 2
Alias:
oim
Cola2
Cola-2
Col1a-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码纤维形成的I型胶原的α-2亚基,I型胶原是骨骼、皮肤和肌腱细胞外基质中最丰富的蛋白质。编码的蛋白质与α-1亚基结合,形成异源三聚型I前胶原,在纤维形成过程中进行蛋白水解加工。携带编码基因中某些突变的小鼠表现出中度至重度成骨不全的症状。[RefSeq,2015年12月提供]
Related ID:
NCBI:12843
ENSEMBL:ENSMUSG00000029661
UNIPROT:Q01149
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12843
1
52
35926 bp
129.56
15
12
Col1a2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
MGI
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