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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
STON2 - Stonin 2
Alias:
STN2
STNB
STNB2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与调节内吞复合物的膜蛋白。这种蛋白质产物被描述为一种与clathrin相关的分类蛋白,这种适配器分子确保特定的蛋白质被内化。已发现这个基因的编码蛋白质也通过与其他突触囊泡回收所需的突触素1的相互作用参与突触传递。已经发现这个基因有多种转录变异体,编码不同的异构体。[RefSeq,2012年1月提供]
Related ID:
NCBI:85439
ENSEMBL:ENSG00000140022
HGNC:30652
UNIPROT:Q8WXE9
OMIM:608467
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
85439
15
8
175814 bp
101.17
33
--
3
8
STON2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
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Status
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References Literature
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