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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
GDI2 - GDP Dissociation Inhibitor 2
Alias:
RABGDIB
HEL-S-46e
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
GDP解离抑制剂是一种蛋白质,可调节rab家族成员GDP-GTP交换反应,ras超家族的小GTP结合蛋白,参与细胞器之间分子的囊泡运输。GDIs减缓rab蛋白从GDP解离的速度并从膜结合rab中释放GDP。GDI2在全身表达。GDI2基因包含许多重复元素,表明它可能容易发生反转/删除重排。替代剪接导致编码不同异构体的多种转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2665
ENSEMBL:ENSG00000057608
HGNC:4227
UNIPROT:P50395
OMIM:600767
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2665
2
11
48212 bp
50.66
16
--
4
19
GDI2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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Type
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