Property Summary

NCBI Gene PubMed Count 34
PubMed Score 14.29
PubTator Score 39.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.400 3.5e-02
osteosarcoma 1.146 2.5e-02
glioblastoma -1.100 9.9e-04
medulloblastoma, large-cell 1.200 1.2e-04
aldosterone-producing adenoma -1.281 9.4e-03
ovarian cancer 1.600 1.6e-03

 GWAS Trait (1)

Gene RIF (18)

PMID Text
23918382 Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
23812912 Description of a novel ARFGEF2 mutation in five related patients presenting with West syndrome, microcephaly, periventricular heterotopia and thin corpus callosum.
23755938 The clinical phenotype associated with mutations in ARFGEF2 is relatively homogeneous in the families report.
23386609 an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
22908276 Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin beta1 cycling and actin remodeling.
22190034 HIV-1 Vpu is identified to have a physical interaction with ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2; BIG2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21309479 Up-regulation of ARFGEF2 is associated with the Huntington's disease.
20360857 BIG1 and BIG2 have roles in endomembrane organization
19384555 Results describe a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations.
18625701 both the constitutive and cAMP-induced release of TNFR1 exosome-like vesicles occur via PKA-dependent pathways that are regulated by the anchoring of RIIbeta to BIG2 via AKAP domains B and C
18417613 These observations indicate that BIG2 and BIG1 play redundant roles in trafficking between the trans-Golgi network and endosomes that involves the AP-1 complex.
18003980 COPII is the only coat required for sorting and export from the endoplasmic reticulum exit sites, whereas GBF1 but not BIGs, is required for COPI recruitment, Golgi subcompartmentalization, and cargo progression to the cell surface.
17360629 Phosphorylation of BIG1 and BIG2 via PKA and protein phosphatase 1gamma effects vesicular trafficking via alterations in ARF activation.
17276987 Regulates the constitutive release of tumor necrosis factor receptor type 1 exosome-like vesicles from vascular endothelial cells.
16320251 ARFGEF2 mRNA was widely expressed in all cortical layers, especially in the neural precursors of the ventricular and subventricular zones during development, with persistent but diminished expression in adulthood.
15705715 BIG2 and Exo70 interact in trans-Golgi network and centrosomes, as well as in exocyst structures or complexes that move along microtubules to the plasma membrane.
12571360 identification of protein kinase A-anchoring domains
11665623 involvement in molecular mechanisms of vesicular transport

AA Sequence

MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVALDEIKAEIEKQRLGTAAPPKANFIEADKYFL      1 - 70
PFELACQSKSPRVVSTSLDCLQKLIAYGHITGNAPDSGAPGKRLIDRIVETICSCFQGPQTDEGVQLQII     71 - 140
KALLTAVTSPHIEIHEGTILQTVRTCYNIYLASKNLINQTTAKATLTQMLNVIFTRMENQVLQEARELEK    141 - 210
PIQSKPQSPVIQAAAVSPKFVRLKHSQAQSKPTTPEKTDLTNGEHARSDSGKVSTENGDAPRERGSSLSG    211 - 280
TDDGAQEVVKDILEDVVTSAIKEAAEKHGLTEPERVLGELECQECAIPPGVDENSQTNGIADDRQSLSSA    281 - 350
DNLESDAQGHQVAARFSHVLQKDAFLVFRSLCKLSMKPLGEGPPDPKSHELRSKVVSLQLLLSVLQNAGP    351 - 420
VFRTHEMFINAIKQYLCVALSKNGVSSVPDVFELSLAIFLTLLSNFKMHLKMQIEVFFKEIFLNILETST    421 - 490
SSFEHRWMVIQTLTRICADAQCVVDIYVNYDCDLNAANIFERLVNDLSKIAQGRSGHELGMTPLQELSLR    491 - 560
KKGLECLVSILKCMVEWSKDLYVNPNHQTSLGQERLTDQEIGDGKGLDMARRCSVTSMESTVSSGTQTTV    561 - 630
QDDPEQFEVIKQQKEIIEHGIELFNKKPKRGIQFLQEQGMLGTSVEDIAQFLHQEERLDSTQVGDFLGDS    631 - 700
ARFNKEVMYAYVDQLDFCEKEFVSALRTFLEGFRLPGEAQKIDRLMEKFAARYIECNQGQTLFASADTAY    701 - 770
VLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSSIYEEIEGKKIAMKETKELTIATK    771 - 840
STKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHAKAPFTSATHLDHVRPMFKLVWTPLLAAYSIGLQ    841 - 910
NCDDTEVASLCLEGIRCAIRIACIFGMQLERDAYVQALARFSLLTASSSITEMKQKNIDTIKTLITVAHT    911 - 980
DGNYLGNSWHEILKCISQLELAQLIGTGVKTRYLSGSGREREGSLKGHTLAGEEFMGLGLGNLVSGGVDK    981 - 1050
RQMASFQESVGETSSQSVVVAVDRIFTGSTRLDGNAIVDFVRWLCAVSMDELASPHHPRMFSLQKIVEIS   1051 - 1120
YYNMNRIRLQWSRIWHVIGDHFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHI   1121 - 1190
MKKNRSPTIRDMAIRCIAQMVNSQAANIRSGWKNIFAVFHQAASDHDGNIVELAFQTTCHIVTTIFQHHF   1191 - 1260
PAAIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRFCGKYVSERPRVLQEYTSDDMNVAPGDRVWVRGWF   1261 - 1330
PILFELSCIINRCKLDVRTRGLTVMFEIMKSYGHTFEKHWWQDLFRIVFRIFDNMKLPEQLSEKSEWMTT   1331 - 1400
TCNHALYAICDVFTQFYEALNEVLLSDVFAQLQWCVKQDNEQLARSGTNCLENLVISNGEKFSPEVWDET   1401 - 1470
CNCMLDIFKTTIPHVLLTWRPVGMEEDSSEKHLDVDLDRQSLSSIDKNPSERGQSQLSNPTDDSWKGRPY   1471 - 1540
ANQKLFASLLIKCVVQLELIQTIDNIVFYPATSKKEDAEHMVAAQQDTLDADIHIETEDQGMYKYMSSQH   1541 - 1610
LFKLLDCLQESHSFSKAFNSNYEQRTVLWRAGFKGKSKPNLLKQETSSLACCLRILFRMYVDENRRDSWE   1611 - 1680
EIQQRLLTVCSEALAYFITVNSESHREAWTSLLLLLLTKTLKINDEKFKAHASMYYPYLCEIMQFDLIPE   1681 - 1750
LRAVLRKFFLRIGVVYKIWIPEEPSQVPAALSPVW                                      1751 - 1785
//

Text Mined References (49)

PMID Year Title
24489884 2014 Genome-wide association study of proneness to anger.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23918382 2013 Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
23812912 2013 West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.
23755938 2013 Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
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).
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22908276 2012 Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin ?1 cycling and actin remodeling.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21309479 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2): a new potential biomarker in Huntington's disease.
21269460 2011 Initial characterization of the human central proteome.
20360857 2010 Specific functions of BIG1 and BIG2 in endomembrane organization.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19384555 2009 Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19332778 2009 Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18625701 2008 cAMP-dependent protein kinase A (PKA) signaling induces TNFR1 exosome-like vesicle release via anchoring of PKA regulatory subunit RIIbeta to BIG2.
18417613 2008 Redundant roles of BIG2 and BIG1, guanine-nucleotide exchange factors for ADP-ribosylation factors in membrane traffic between the trans-Golgi network and endosomes.
18203920 2008 Membrane association of the Arabidopsis ARF exchange factor GNOM involves interaction of conserved domains.
18003980 2008 Distinct functions for Arf guanine nucleotide exchange factors at the Golgi complex: GBF1 and BIGs are required for assembly and maintenance of the Golgi stack and trans-Golgi network, respectively.
17640864 2007 Interactions between conserved domains within homodimers in the BIG1, BIG2, and GBF1 Arf guanine nucleotide exchange factors.
17360629 2007 Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma.
17276987 2007 The brefeldin A-inhibited guanine nucleotide-exchange protein, BIG2, regulates the constitutive release of TNFR1 exosome-like vesicles.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16866877 2006 AMY-1 (associate of Myc-1) localization to the trans-Golgi network through interacting with BIG2, a guanine-nucleotide exchange factor for ADP-ribosylation factors.
16477018 2006 Association of brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2) with recycling endosomes during transferrin uptake.
16320251 2006 Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.
15705715 2005 Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide-exchange protein, with exocyst protein Exo70.
15385626 2004 BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14647276 2004 Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
12571360 2003 Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12051703 2002 Dominant-negative mutant of BIG2, an ARF-guanine nucleotide exchange factor, specifically affects membrane trafficking from the trans-Golgi network through inhibiting membrane association of AP-1 and GGA coat proteins.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11777925 2002 Overexpression of an ADP-ribosylation factor-guanine nucleotide exchange factor, BIG2, uncouples brefeldin A-induced adaptor protein-1 coat dissociation and membrane tubulation.
11013081 2000 Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members.
10716990 2000 Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex.
10212200 1999 Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors.