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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
SH2B3 - SH2B Adaptor Protein 3
Alias:
LNK
IDDM20
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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SH2B适配器家族的一员,该家族参与生长因子和细胞因子受体的一系列信号传导活动。编码的蛋白质是细胞因子信号传导的关键负调控因子,并在造血中发挥关键作用。这个基因的突变与对乳糖不耐受13型的易感性和胰岛素依赖性糖尿病的易感性有关。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq,2014年4月提供]
Related ID:
NCBI:10019
ENSEMBL:ENSG00000111252
HGNC:29605
UNIPROT:Q9UQQ2
OMIM:605093
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10019
11
8
46894 bp
63.23
71
5
4
8
SH2B3 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
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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