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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
ITGA2B - Integrin Subunit Alpha 2b
Alias:
GT
GT1
GTA
CD41
GP2B
HPA3
CD41B
GPIIb
BDPLT2
BDPLT16
PPP1R93
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码整合素α链家族蛋白质的一员。编码的前原蛋白在蛋白水解过程中被加工成轻链和重链,通过二硫键连接形成α-IIb/β-3整合素细胞粘附受体的亚单位。这个受体在血液凝固系统中扮演着关键角色,通过介导血小板聚集。这个基因的突变与血小板型出血障碍有关,其特点是血小板聚集失败,包括Glanzmann血栓病。[由RefSeq,2016年1月提供]
Related ID:
NCBI:3674
ENSEMBL:ENSG00000005961
HGNC:6138
UNIPROT:P08514
OMIM:607759
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3674
3
30
17469 bp
113.38
531
6
7
54
ITGA2B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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