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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
SCYL2 - SCY1 Like Pseudokinase 2
Alias:
AMC4
AMCNACC
CVAK104
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质与质膜上的clathrin包被复合物以及内吞被覆囊泡结合。编码的蛋白质对质膜适配器复合物AP2的beta2亚基进行磷酸化,并与clathrin相互作用,表明在跨高尔基网络和内质网系统之间的clathrin依赖性途径中发挥作用。此外,这个蛋白质通过将frizzled 5 (Fzd5)靶向溶酶体降解,在Wnt信号通路中发挥作用。已发现这个基因的两个转录变异体编码相同的蛋白质。[RefSeq提供,2015年12月]
Related ID:
NCBI:55681
ENSEMBL:ENSG00000136021
HGNC:19286
UNIPROT:Q6P3W7
OMIM:616365
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55681
5
18
74539 bp
103.71
45
2
5
12
SCYL2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Type
Name
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References Literature
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