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10564 ARFGEF2

10564

ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADP ribosylation factor guanine nucleotide exchange factor 2

研究结论

Date Results Publications
2020-06-06 12:28:00 BIG1 and BIG2 knockdown significantly decreased the levels of VEGF mRNA and protein in glioblastoma U251 cells and HUVECs. Furthermore, depletion of BIG1 and BIG2 inhibited HUVEC angiogenesis by diminishing cell migration. 31199673
2016-12-24 11:13:00 Both phospholipase D activity and vesicular trafficking were required for effects of BIG1 and BIG2 on beta-catenin activation. Levels of beta-catenin S675 and beta-catenin association with BIG1, and BIG2 were also diminished after BIG1/BIG2 depletion. 27162341
2014-09-20 11:52:00 Description of a novel ARFGEF2 mutation in five related patients presenting with West syndrome, microcephaly, periventricular heterotopia and thin corpus callosum. 23812912
2014-07-05 11:15:00 The clinical phenotype associated with mutations in ARFGEF2 is relatively homogeneous in the families report. 23755938
2013-11-30 11:02:00 Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex. 23918382

名称对应

Type IDs
Synonymous BIG2, PVNH2, dJ1164I10.1
Gene
UniProtKB-ID: BIG2_HUMAN, Q59FR3_HUMAN, Q86TH5_HUMAN
UniprotKB: Q9Y6D5, Q59FR3, Q86TH5
UniParc: UPI000018CE90, UPI00004F6CA9, UPI000013D378
EMBL: AL049537, AB209397, AF084521, AL121903, BC050449
Ensembl: ENSG00000124198
KO: hsa:10564
Nucleutide sequences
EMBL-CDS: AAD38428.1, BAD92634.1, AAH50449.1
Ensembl_TRS: ENST00000371917
Protein sequencees
Ensembl_PRO: ENSP00000360985
RefSeq: XP_005260309.1, NP_006411.2
Others
UniRef100: UniRef100_Q9Y6D5, UniRef100_Q86TH5
UniRef90: UniRef90_Q9Y6D5, UniRef90_Q86TH5
UniRef50: UniRef50_Q9Y6D5, UniRef50_A0A226MMW9
UniGene: Hs.62578
CCDS: CCDS13411.1

全选

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