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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
ITGA2 - Integrin Subunit Alpha 2
Alias:
BR
GPIa
CD49B
HPA-5
VLA-2
VLAA2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个跨膜受体的α亚基,该受体用于胶原蛋白和相关蛋白质。编码的蛋白质与一个β亚基形成异源二聚体,并调节血小板和其他细胞类型与细胞外基质的粘附。编码蛋白质的丧失与血小板类型9的出血障碍有关。针对该蛋白质的抗体存在于几种免疫紊乱中,包括新生儿同种免疫性血小板减少症。这个基因与一个相关的α亚基基因相邻。可选的剪接导致多个转录变异体。[由RefSeq,2012年8月提供]
Related ID:
NCBI:3673
ENSEMBL:ENSG00000164171
HGNC:6137
UNIPROT:P17301
OMIM:192974
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3673
1
30
105428 bp
129.30
316
1
10
17
ITGA2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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