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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
NOTCH2 - Notch Receptor 2
Alias:
hN2
AGS2
HJCYS
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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Notch家族的成员。这个1型跨膜蛋白家族的成员具有相似的结构特征,包括一个由多个表皮生长因子样(EGF)重复序列组成的细胞外结构域,以及一个由多个不同结构域组成的细胞内结构域。Notch家族成员通过控制细胞命运决策参与多种发育过程。Notch信号网络是一个进化保守的细胞间信号传导途径,调节相邻细胞之间的相互作用。在果蝇中,Notch与其结合的细胞附着配体(delta,serrate)相互作用,建立发育过程中起关键作用的细胞间信号传导途径。人类中也已经发现了Notch配体的同源物,但这些配体与人类Notch同源物之间的精确相互作用仍有待确定。这个蛋白在高尔基体网络中被切割,并在细胞表面作为异二聚体呈现。这个蛋白作为膜结合配体的受体发挥作用,可能参与血管、肾脏和肝脏的发育。已经发现这个基因的两个转录变异体,编码不同的异构体。[由RefSeq,2011年1月提供]
Related ID:
NCBI:4853
ENSEMBL:ENSG00000134250
HGNC:7882
UNIPROT:Q04721
OMIM:600275
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
4853
2
34
158110 bp
265.40
1089
3
24
28
NOTCH2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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