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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

ADP-ribosylation factor guanine nucleotide-exchange factor 2

BIG2, CNTN4, ARFGEF2, Contactin 4
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: p16, contactin, HAD, ARF1, CAN
Papers using BIG2 antibodies
Analysis of gene function in somatic mammalian cells using small interfering RNAs.
Supplier
Delprato Anna Maria, In PLoS ONE, 2001
... Antibodies used were as followed: mouse monoclonal anti-GBF1 (BD Transduction Laboratories); rabbit polyclonal anti-BIG1 and anti-BIG2 (Bethyl Laboratories); monoclonal mouse anti-α-tubulin ...
Purification and partial characterization of the major outer membrane protein of Chlamydia trachomatis.
Supplier
Valdivia Raphael H., In PLoS Pathogens, 1980
... (Cortex Biochem), mouse anti-GAPDH (Chemicon), mouse anti-GBF1 (BD Transduction Laboratories), rabbit anti-BIG1 (Santa Cruz), rabbit anti-BIG2 (Bethyl Laboratories, Inc.), chicken anti-CERT ...
Papers on BIG2
The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.
New
Tekgul et al., İzmir, Turkey. In Brain Dev, Jan 2016
Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal hyperintensity and movement disorder.
Genome-wide association study of schizophrenia in Ashkenazi Jews.
New
Pulver et al., Jerusalem, Israel. In Am J Med Genet B Neuropsychiatr Genet, Dec 2015
Supportive evidence (meta P < 1 × 10(-4) ) was also found for several previously identified genome-wide significant findings, including the HLA region, CNTN4, IMMP2L, and GRIN2A.
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
New
Gau et al., Tokyo, Japan. In Autism Res, Sep 2015
In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1.
Combined Whole Methylome and Genomewide Association Study Implicates CNTN4 in Alcohol Use.
New
van den Oord et al., Stockholm, Sweden. In Alcohol Clin Exp Res, Aug 2015
RESULTS: When combining the MWAS and GWAS data, our top finding was a region in an intron of CNTN4 (p = 2.55 × 10(-8) ), located between chr3: 2,555,403 and 2,555,524, encompassing SNPs rs1382874 and rs1382875.
Personal exposure to PM2.5, genetic variants and DNA damage: a multi-center population-based study in Chinese.
New
Shen et al., Nanjing, China. In Toxicol Lett, Jul 2015
Gene-based test revealed 3 genes significantly associated with DNA damage levels (P=5.11×10(-3) for POLH, P=2.88×10(-3) for RIT2 and P=2.29×10(-2) for CNTN4).
Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.
Review
New
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, Jun 2015
The analysis of array comparative genomic hybridization analysis revealed a 43.68-Mb duplication of 3p26.3-3p22.1 encompassing CHL1 and CNTN4, and an 8.66-Mb deletion of 7q36.1-7q36.3
9B.09: IDENTIFICATION OF MARKERS PREDICTIVE FOR MALIGNANT BEHAVIOR OF PHEOCHROMOCYTOMAS AND PARAGANGLIOMAS.
New
Korpershoek et al., Delft, Netherlands. In J Hypertens, Jun 2015
Five genes showed an FDR below 0.01 and were overexpressed in malignant tumours with a ratio higher than 4, including Contactin 4 (CNTN4), Iroquois Homeobox 3 (IRX3), and Sulfatase 2 (SULF2).
Contactin-4 mediates axon-target specificity and functional development of the accessory optic system.
New
Huberman et al., San Diego, United States. In Neuron, Jun 2015
Here we show that in the absence of contactin 4 (CNTN4) or one of its binding partners, amyloid precursor protein (APP), a subset of direction-selective RGCs fail to target the nucleus of the optic tract (NOT)--the accessory optic system (AOS) target controlling horizontal image stabilization.
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
Surti et al., Pittsburgh, United States. In J Neurodev Disord, 2014
Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders.
Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link?
Review
Curatolo et al., Roma, Italy. In Brain Dev, 2014
The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5).
Contactins in the neurobiology of autism.
Review
Burbach et al., Utrecht, Netherlands. In Eur J Pharmacol, 2013
The contactin (CNTN) family of Ig cell adhesion molecules (IgCAMs) harbours at least three members that have genetically been implicated in autism: CNTN4, CNTN5, and CNTN6.
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
Review
Jansen et al., Brussels, Belgium. In Eur J Paediatr Neurol, 2013
BACKGROUND: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development.
Disruption of Contactin 4 in two subjects with autism in Chinese population.
GeneRIF
Xia et al., Changsha, China. In Gene, 2012
these results suggest that rare copy number variations in CNTN4 may also influence autism susceptibility in Asian populations.
Contactin 4 as an autism susceptibility locus.
GeneRIF
Herman et al., Columbus, United States. In Autism Res, 2011
Using array comparative genome hybridization (CGH), we identified a maternally inherited approximately 535 kb deletion at 3p26.3 encompassing the 5' end of the contactin 4 gene (CNTN4) in a patient with autism.
Contactins: structural aspects in relation to developmental functions in brain disease.
Review
Burbach et al., Utrecht, Netherlands. In Adv Protein Chem Struct Biol, 2010
Genetics of neuropsychiatric disorders, particularly autism spectrum disorders, have pinpointed contactin-4, -5, and -6 (CNTN4, -5, and -6) as potential disease genes in neurodevelopmental disorders and suggested that they participate in pathways important for appropriate brain development.
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2): a new potential biomarker in Huntington's disease.
GeneRIF
Peterlin et al., Ljubljana, Slovenia. In J Int Med Res, 2010
Up-regulation of ARFGEF2 is associated with the Huntington's disease.
Specific functions of BIG1 and BIG2 in endomembrane organization.
GeneRIF
Stephens et al., Bristol, United Kingdom. In Plos One, 2009
BIG1 and BIG2 have roles in endomembrane organization
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Impact
Hakonarson et al., Philadelphia, United States. In Nature, 2009
10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x 10(-3)).
Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer.
GeneRIF
Tonin et al., Montréal, Canada. In Int J Gynecol Cancer, 2009
results do not support the candidacy of CHL1, CNTN6, and CNTN4 as tumor suppressor genes in the 3p26-pter region in ovarian cancer
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Impact
Walsh et al., Boston, United States. In Nat Genet, 2004
Here we show that an autosomal recessive condition characterized by microcephaly and periventricular heterotopia maps to chromosome 20 and is caused by mutations in the gene ADP-ribosylation factor guanine nucleotide-exchange factor-2 (ARFGEF2).
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