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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
小鼠
Arhgef2 - rho/rac guanine nucleotide exchange factor (GEF) 2
Alias:
GEF
Lfc
P40
GEFH1
LFP40
Lbcl1
GEF-H1
mKIAA0651
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活鸟苷酸交换因子活性和微管结合活性。参与几个过程,包括有丝分裂纺锤体定位的建立;神经元的产生;以及神经元迁移的正调控。在几个过程的上游或内部发挥作用,包括肌动蛋白丝组织;podosome组装的负调控;以及Rho蛋白信号传导的调控。位于几个细胞组件中,包括树突杆;podosome;和突触后密度。在几个结构中表达,包括大脑;背根神经节;和睾丸。用于研究具有中脑和后脑畸形的中枢神经系统发育障碍。这个基因的人类同源物与具有中脑和后脑畸形的中枢神经系统发育障碍有关。与人类的ARHGEF2(Rho/Rac鸟苷酸交换因子2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:16800
ENSEMBL:ENSMUSG00000028059
UNIPROT:Q60875
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
16800
17
22
56413 bp
111.97
9
14
Arhgef2 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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