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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
ARFGEF2 - ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2
Alias:
BIG2
PVNH2
dJ1164I10.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
ADP核糖基化因子(ARFs)在细胞内泡囊运输中扮演重要角色。这个基因编码的蛋白质通过加速结合的GDP替换为GTP来激活ARFs,并参与高尔基体运输。它包含一个Sec7结构域,这可能负责其鸟苷酸交换活性和勃莱菲啶A抑制。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10564
ENSEMBL:ENSG00000124198
HGNC:15853
UNIPROT:Q9Y6D5
OMIM:605371
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10564
3
39
114983 bp
202.04
624
2
4
33
ARFGEF2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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