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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
AGFG2 - ArfGAP With FG Repeats 2
Alias:
HRBL
RABR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因是HIV-1 Rev结合蛋白(HRB)家族的成员,编码一个具有一个Arf-GAP锌指结构域、几个phe-gly (FG)基序和四个asn-pro-phe (NPF)基序的蛋白质。这种蛋白质与Eps15同源(EH)结构域相互作用,并在Rev输出途径中发挥作用,该途径调节蛋白质和RNA的核质转移。已经描述了可变剪接的转录变异体,但其生物学有效性尚未确定。[由RefSeq,2013年2月提供]
Related ID:
NCBI:3268
ENSEMBL:ENSG00000106351
HGNC:5177
UNIPROT:O95081
OMIM:604019
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3268
4
12
29018 bp
48.96
16
--
3
7
AGFG2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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