Property Summary

NCBI Gene PubMed Count 34
Grant Count 17
R01 Count 10
Funding $746,604.46
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 0.035
osteosarcoma 1.146 0.025
glioblastoma -1.100 0.001
medulloblastoma, large-cell 1.200 0.000
aldosterone-producing adenoma -1.281 0.009
ovarian cancer 1.600 0.002

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
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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
//

Publication (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.
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