Identity
HGNC
LOCATION
20q13.13
LOCUSID
ALIAS
BIG2,PVNH2,dJ1164I10.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10564
MIM: 605371
HGNC: 15853
Ensembl: ENSG00000124198
Variants:
dbSNP: 10564
ClinVar: 10564
TCGA: ENSG00000124198
COSMIC: ARFGEF2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124198 | ENST00000371917 | Q9Y6D5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31199673 | 2019 | Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis. | 8 |
| 31199673 | 2019 | Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis. | 8 |
| 27162341 | 2016 | Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals. | 12 |
| 27162341 | 2016 | Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals. | 12 |
| 23386609 | 2013 | The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN). | 47 |
| 23755938 | 2013 | Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review. | 2 |
| 23812912 | 2013 | West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. | 13 |
| 23918382 | 2013 | Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex. | 12 |
| 23386609 | 2013 | The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN). | 47 |
| 23755938 | 2013 | Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review. | 2 |
| 23812912 | 2013 | West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. | 13 |
| 23918382 | 2013 | Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex. | 12 |
| 22908276 | 2012 | Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling. | 9 |
| 22908276 | 2012 | Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling. | 9 |
| 20360857 | 2010 | Specific functions of BIG1 and BIG2 in endomembrane organization. | 30 |
Citation
Dessen P
ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43129/arfgef2
