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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
大鼠
Epn2 - epsin 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是epsin蛋白质家族的成员。Epsin蛋白质是内吞适应性接头,在clathrin包被的囊泡的形成中发挥作用。Epsins含有高度保守的N端同源结构域,在质膜中结合磷酸atidylinositol 4,5-bisphosphate,两个或三个泛素相互作用基序,两个clathrin结合基序,一个天冬氨酸-脯氨酸-色氨酸/苯丙氨酸重复序列簇,以及两个或三个天冬氨酸-脯氨酸-苯丙氨酸三肽重复序列。在鼠中,同时敲除这个基因和其同系物会导致由于Notch信号传导破坏而导致的胚胎停止,提示其作为一个专门的内吞适应性接头的作用。可变剪接导致多个转录变异体。[RefSeq,2015年3月提供]
Related ID:
NCBI:60443
ENSEMBL:ENSRNOG00000060550
UNIPROT:Q9Z1Z3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
60443
21
11
61889 bp
Unknown
2
3
Epn2 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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References Literature
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