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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
SMOC2 - SPARC Related Modular Calcium Binding 2
Alias:
DTDP1
SMAP2
MST117
MSTP117
MSTP140
bA37D8.1
bA270C4A.1
dJ421D16.1
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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SPARC家族的一员(分泌性酸性富含半胱氨酸/骨连接蛋白/BM-40),在胚胎发生和伤口愈合过程中高度表达。基因产物是一种细胞间质蛋白,促进基质组装,可以刺激内皮细胞增殖和迁移,以及血管生成活性。与肺功能有关,这个分泌性基因产物包含一个Kazal结构域,两个胸球蛋白1型结构域,和两个EF手钙结合结构域。编码的蛋白质可能作为肿瘤生长和心肌缺血中血管生成的调控靶点。可变剪接导致多个转录变异体。[RefSeq,2009年10月提供]
Related ID:
NCBI:64094
ENSEMBL:ENSG00000112562
HGNC:20323
UNIPROT:Q9H3U7
OMIM:607223
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64094
4
13
226809 bp
49.67
75
1
9
8
SMOC2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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No data available
* 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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