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FLASH GENE
Symbol ARFGEF2 contributors: mct - updated : 09-04-2014
HGNC name ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
HGNC id 15853
Corresponding disease
ARPHM periventricular heterotopia with microcephaly
Location 20q13.13      Physical location : 47.538.274 - 47.653.229
Synonym name
  • brefeldin A-inhibited guanine nucleotide exchange protein 2, for ADP-ribosylation factor
  • Brefeldin A-inhibited GEP2
  • Synonym symbol(s) BIG2, dJ1164I10.1, PVNH2
    DNA
    TYPE functioning gene
    STRUCTURE 114.98 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    EYA2 20q13.1 eyes absent homolog 2 (Drosophila) PRKCBP1 20q12-q13.1 protein kinase C binding protein 1 RPL35AP 20q12-q13.1 ribosomal protein L35a pseudogene NCOA3 20q12 nuclear receptor coactivator 3 SULF2 20q12-q13.1 Homo sapiens similar to glucosamine-6-sulfatases (SULF2), mRNA. SRMP1 20q13.13 spermidine synthase pseudogene 1 LOC388798 20 LOC388798 PREX1 20q12-q13 LOC388798 ARFGEF2 20q13.13 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) SNAP23P 20 synaptosomal-associated protein, 23kDa pseudogene CSE1L 20q13 CSE1 chromosome segregation 1-like (yeast) STAU 20q13.1 staufen, RNA binding protein (Drosophila) ARPC3B 20q13.13 actin related protein 2/3 complex, subunit 3B, 21kDa DDX27 20q13.13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 KIAA1404 20q13.13 KIAA1404 protein KCNB1 20q13.1 potassium voltage-gated channel, Shab-related subfamily, member 1 PTGIS 20q13.1-q13.3 prostaglandin I2 (prostacyclin) synthase B4GALT5 20q13.1-q13.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 SNRPFP1 20 small nuclear ribonucleoprotein polypeptide F pseudogene 1 SLC9A8 20q13.13 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8 SPATA2 20q13.1-q13.2 spermatogenesis associated 2 ZNF313 20q13.13 zinc finger protein 313 LOC391256 20 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) SNAI1 20q13.2 snail homolog 1 (Drosophila) LOC149738 20q13.13 hypothetical LOC149738 UBE2V1 20q13.2 ubiquitin-conjugating enzyme E2 variant 1 CEBPB 20q13.1 CCAAT/enhancer binding protein (C/EBP), beta COX6CP2 20 cytochrome c oxidase subunit VIc pseudogene 2 PTPN1 20q13.1-q13.2 protein tyrosine phosphatase, non-receptor type 1 LOC200230 20q13.13 similar to KIAA0386 C20orf175 20 chromosome 20 open reading frame 175 RPL36P2 20q13.1 ribosomal protein L36 pseudogene 2 PARD6B 20q13.13 par-6 partitioning defective 6 homolog beta (C. elegans) BCAS4 20q13.13-q13.2 breast carcinoma amplified sequence 4 TMSL6 20 thymosin-like 6 ADNP 20q13.3-q13.2 activity-dependent neuroprotector
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 9004 - 1785 - 2005 15705715
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrinepancreas    
    Nervousbrain    
     spinal cord   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal motif within Sec7 domain of guanine nucleotide exchange factors regulates ADP-ribosylation factor (ARF) binding and activation
  • HOMOLOGY
    interspecies homolog to Drosophila CG7187
    intraspecies homolog to BIG1
    Homologene
    FAMILY
    CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • colocalizing with COPB1 in a perinuclear structure probably with Golgi membranes
  • GBF1 acts at the cis-Golgi, whereas ARFGEF1 and its close paralog ARFGEF2 act at the trans-Golgi
  • basic FUNCTION
  • playing an important role in vesicular and membrane trafficking from the trans-golgi network
  • involved in the activation of ARFs (ARF1, ARF5 and ARF6) by accelerating replacement of bound GDP with GTP
  • activator of ADP-ribosylation factor GTPases that are essential for regulating vesicular traffic among intracellular organelles
  • ARFGEF1, ARFGEF2 play redundant roles in trafficking between the TGN and endosomes that involves the AP-1 complex
  • ARFGEF1 is required to maintain the normal morphology of the Golgi but ARFGEF2 is important for endosomal compartment integrity and cannot replace the function of ARFGEF1 in Golgi organization
  • alone or in concert with recruited MYCBP coordinates ARF-mediated membrane trafficking and signaling pathways
  • may coordinate actin cytoskeleton mechanics and membrane traffic in cell migration via ITGB1 action and actin functions
  • involved in the activation of ARFs by accelerating replacement of bound guanosine diphosphate (GDP) with Guanosine triphosphate (GTP), and is involved in Golgi transport
  • Arf guanine nucleotide-exchange factors ARFGEF1, ARFGEF2 and regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport , cellular trafficking transport
    text Golgi transport
    PATHWAY
    metabolism
    signaling
    a component
  • component with BIG1 of a macromolecular complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with EXOC7 in trans-golgi network and centrosome
  • ARL1 is necessary for Golgi recruitment of ARFGEF1 and ARFGEF2 but not GBF1
  • regulates filamin A phosphorylation and neuronal migration
  • GBF1-activated ARFs (ARF4 and ARF5, but not ARF3) facilitate ARFGEF1 and ARFGEF2 recruitment to the trans-Golgi network (TGN)
  • FLNA regulates neuronal migration through ARFGEF2-dependent ARF1 activation
  • cell & other
    REGULATION
    inhibited by brefeldin A
    ASSOCIATED DISORDERS
    corresponding disease(s) ARPHM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly up-regulated in the Huntington disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS