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ARFGEF2 Gene

protein-coding   GIFtS: 60
GCID: GC20P047538

ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin
A-Inhibited)1 2
     PVNH22 5
BIG22 3 5     dJ1164I10.12
Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 21 2     ARFGEP23
Brefeldin A-Inhibited GEP 22 3     ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 23

External Ids:    HGNC: 158531   Entrez Gene: 105642   Ensembl: ENSG000001241987   OMIM: 6053715   UniProtKB: Q9Y6D53   

Export aliases for ARFGEF2 gene to outside databases

Previous GC identifers: GC20P047266 GC20P048176 GC20P048223 GC20P046971 GC20P044289


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARFGEF2 Gene:
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)

GeneCards Summary for ARFGEF2 Gene:
ARFGEF2 (ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)) is a protein-coding gene. Diseases associated with ARFGEF2 include periventricular heterotopia with microcephaly, and periventricular heterotopia, autosomal recessive. GO annotations related to this gene include ARF guanyl-nucleotide exchange factor activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.

UniProtKB/Swiss-Prot: BIG2_HUMAN, Q9Y6D5
Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend on ARF5 and ARF6. Promotes
the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi
vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the
trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1.
Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane.
Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive
release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and
specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf
and PKA pathways

Gene Wiki entry for ARFGEF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARFGEF2 gene promoter:
         AP-1   ATF-2   CUTL1   E47   PPAR-gamma1   Hand1   c-Jun   Msx-1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARFGEF2 promoter sequence
   Search Chromatin IP Primers for ARFGEF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARFGEF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.13   Ensembl cytogenetic band:  20q13.13   HGNC cytogenetic band: 20q13.13

ARFGEF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARFGEF2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P047538:  view genomic region     (about GC identifiers)

Start:
47,538,275 bp from pter      End:
47,653,230 bp from pter
Size:
114,956 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BIG2_HUMAN, Q9Y6D5 (See protein sequence)
Recommended Name: Brefeldin A-inhibited guanine nucleotide-exchange protein 2  
Size: 1785 amino acids; 202038 Da
Subunit: Homodimer (Probable). Interacts with BIG1; both proteins are probably part of the same or very similar
macromolecular complexes. Interacts with PRKAR1A, PRKAR2A, PRKAR1B, PRKAR2B, PPP1CC, PDE3A, TNFRSF1A, MYCBP and
EXOC7. Interacts with GABRB1, GABRB2 and GABRB3 (By similarity)
2 PDB 3D structures from and Proteopedia for ARFGEF2:
3L8N (3D)        3SWV (3D)    
Secondary accessions: Q5TFT9 Q9NTS1

Explore the universe of human proteins at neXtProt for ARFGEF2: NX_Q9Y6D5

Explore proteomics data for ARFGEF2 at MOPED

Post-translational modifications: 

  • In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP11
  • Ubiquitination2 at Lys1171
  • Modification sites at PhosphoSitePlus

  • See ARFGEF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006411.2  
    ENSEMBL proteins: 
     ENSP00000360985  
    Reactome Protein details: Q9Y6D5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AKAP: A-kinase anchor proteins

    4 InterPro protein domains:
     IPR023394 Sec7_alpha_orthog
     IPR000904 Sec7_dom
     IPR016024 ARM-type_fold
     IPR015403 DUF1981_Sec7_assoc

    Graphical View of Domain Structure for InterPro Entry Q9Y6D5

    ProtoNet protein and cluster: Q9Y6D5

    2 Blocks protein domains:
    IPB000357 HEAT repeat
    IPB000904 SEC7-like domain


    UniProtKB/Swiss-Prot: BIG2_HUMAN, Q9Y6D5
    Similarity: Contains 1 SEC7 domain


    ARFGEF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BIG2_HUMAN, Q9Y6D5
    Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend on ARF5 and ARF6. Promotes
    the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi
    vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the
    trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1.
    Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane.
    Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive
    release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and
    specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf
    and PKA pathways
    Enzyme regulation: Inhibited by brefeldin A

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA10212200
    GO:0005086ARF guanyl-nucleotide exchange factor activity IDA15385626
    GO:0005488binding ----
    GO:0005515protein binding IPI10716990
    GO:0017022myosin binding IEA--
         
    ARFGEF2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arfgef2):
     cellular  growth/size/body  mortality/aging  nervous system 

    ARFGEF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arfgef2tm1Itl for ARFGEF2

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    Block miRNA regulation of human, mouse, rat ARFGEF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARFGEF2 (see all 55):
    hsa-miR-219-1-3p hsa-miR-607 hsa-miR-200a hsa-miR-29a hsa-miR-25 hsa-miR-16-1* hsa-miR-141 hsa-miR-3142
    SwitchGear 3'UTR luciferase reporter plasmidARFGEF2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BIG2_HUMAN, Q9Y6D5: Cytoplasm. Membrane. Golgi apparatus. Cytoplasm, perinuclear region. Golgi apparatus,
    trans-Golgi network (By similarity). Endosome (By similarity). Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome. Cell projection, dendrite (By similarity). Cytoplasmic vesicle (By similarity). Cell
    junction, synapse (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Translocates from cytoplasm to
    membranes upon cAMP treatment. Localized in recycling endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    endosome5
    golgi apparatus5
    nucleus2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA10716990
    GO:0005737cytoplasm ----
    GO:0005802trans-Golgi network ISS--
    GO:0005815microtubule organizing center IDA15705715
    GO:0005829cytosol IDA12571360

    ARFGEF2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARFGEF2 About    
    See pathways by source

    SuperPathContained pathways About
    1Protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.58
    Protein folding0.91
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ARFGEF2
        Association of TriC/CCT with target proteins during biosynthesis



    ARFGEF2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARFGEF2
    Interactions:

        GeneGlobe Interaction Network for ARFGEF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARFGEF2 (Q9Y6D51, 2, 3 ENSP000003609854) via UniProtKB, MINT, STRING, and/or I2D (see all 678)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF40AO754002, 3MINT-7945693 MINT-61881 I2D: score=3 
    RANBP2P497922, 3MINT-7945693 I2D: score=2 
    ARFGEF1Q9Y6D61, 3, ENSP000002622154EBI-2837511,EBI-1044254 I2D: score=3 STRING: ENSP00000262215
    EXOC7Q9UPT52, 3, ENSP000003341004MINT-7945693 I2D: score=2 STRING: ENSP00000334100
    PRKAR1AP106443, ENSP000003514104I2D: score=3 STRING: ENSP00000351410
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001881receptor recycling IDA16477018
    GO:0006887exocytosis IEA--
    GO:0006893Golgi to plasma membrane transport IMP17276987
    GO:0007032endosome organization IMP--
    GO:0010256endomembrane system organization IMP--

    ARFGEF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARFGEF2 (BIG2)

    1 HMDB Compound for ARFGEF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    5 Novoseek inferred chemical compound relationships for ARFGEF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 73.2 4 16477018 (1), 15198677 (1), 19332778 (1), 17227842 (1)
    gtp 63.8 4 16477018 (1), 15198677 (1), 19332778 (1), 17227842 (1)
    nocodazole 52.1 2 15705715 (1)
    guanine 33.7 2 16320251 (2), 18996916 (1), 19120042 (1)
    gaba 18.5 12 15198677 (7), 16413268 (1)



    ARFGEF2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARFGEF2 gene: 
    NM_006420.2  

    Unigene Cluster for ARFGEF2:

    ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
    Hs.62578  [show with all ESTs]
    Unigene Representative Sequence: NM_006420
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371917(uc002xtx.4 uc010zyf.2) ENST00000493140
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    hsa-miR-219-1-3p hsa-miR-607 hsa-miR-200a hsa-miR-29a hsa-miR-25 hsa-miR-16-1* hsa-miR-141 hsa-miR-3142
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    Additional mRNA sequence: 

    AB209397.1 AF084521.1 AK022623.1 AK074303.1 AK302526.1 BC050449.1 BC144625.1 BC144626.1 

    9 DOTS entries:

    DT.455336  DT.304656  DT.91860673  DT.92045739  DT.95349838  DT.40115479  DT.95114995  DT.100754962 
    DT.120818768 

    Selected AceView cDNA sequences (see all 222):

    CA314750 AI640720 AL599306 AI379481 BP354533 BM989278 CA502754 AL711958 
    BX642882 AL705310 AA732734 BM664817 BM728709 AA157825 BX643155 BE301810 
    AI080432 BM976970 AV653000 BU618673 BQ007853 BX641411 AI355019 CA312740 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARFGEF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGATCAG
    ARFGEF2 Expression
    About this image


    ARFGEF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ARFGEF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARFGEF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.62578

    UniProtKB/Swiss-Prot: BIG2_HUMAN, Q9Y6D5
    Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARFGEF2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ARFGEF2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arfgef21 , 5 ADP-ribosylation factor guanine nucleotide-exchange more1, 5 88.8(n)1
    95.74(a)1
      2 (87.22 cM)5
    993711  NM_001085495.21  NP_001078964.11 
     1668055885 
    chicken
    (Gallus gallus)
    Aves ARFGEF21 ADP-ribosylation factor guanine nucleotide-exchange more 78.85(n)
    87.69(a)
      419211  XM_417388.4  XP_417388.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARFGEF26
    ADP-ribosylation factor guanine nucleotide-exchang...
    87(a)
    1 ↔ 1
    4(146311211-146369672)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.306722 Xenopus laevis transcribed sequence with weak similarity more 73.68(n)    48045176 
    zebrafish
    (Danio rerio)
    Actinopterygii arfgef21 ADP-ribosylation factor guanine nucleotide-exchange more 72.46(n)
    80.52(a)
      100334572  XM_002666467.2  XP_002666513.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta BG:DS00797.73 ER to Golgi transport ARF
    guanyl-nucleotide exchange more
    59(a)   34D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea agef-16
    Protein AGEF-1, isoform b (agef-1) mRNA, complete ...
    46(a)
    many ↔ many
    I(13603900-13626225) WBGene00012386
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC7(YDR170C)4 Guanine nucleotide exchange factor (GEF) for ADP ribosylation more   --   4(802222-796193) 851748  NP_010454.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G382001 AT4G38200 48.08(n)
    39.18(a)
      829976  NM_119981.3  NP_195533.2 


    ENSEMBL Gene Tree for ARFGEF2 (if available)
    TreeFam Gene Tree for ARFGEF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARFGEF2 gene
    CYTH32  IQSEC32  CYTH22  ENSG000002684652  ARFGEF12  IQSEC12  IQSEC22  CYTH42  
    CYTH12  FBXO82  
    7 SIMAP similar genes for ARFGEF2 using alignment to 3 protein entries:     BIG2_HUMAN (see all proteins):
    ARFGEF1    PSCD2L    CYTH1    CYTH2    CYTH3    CYTH4
    FLJ00017

    ARFGEF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARFGEF2 (see all 2469)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378801,2,,4
    CPeriventricular nodular heterotopia 2 (PVNH2)4 pathogenic147541013(+) AACTGA/GAAAAA 2 K E mis10--------
    VAR_0361564
    A breast cancer sample4--see VAR_0361562 K E mis40--------
    rs60195281,2
    H--47507275(+) gtctaG/Agttca 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs60195291,2
    H--47507281(+) gttcaG/Agctgg 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs1464275881,2
    --47507301(+) AAACTC/TTACCT 1 -- us2k10--------
    rs60953631,2
    C,F,A,H--47507324(+) GACTGC/TGAAAT 1 -- us2k118Minor allele frequency- T:0.18NS EA NA WA 2340
    rs60953641,2
    C,F,A,H--47507331(+) AAATCG/ACATTA 1 -- us2k18Minor allele frequency- A:0.21NS EA NA WA 748
    rs60195301,2
    H--47507363(+) TTTAAG/AGCCAT 1 -- us2k1 tfbs34Minor allele frequency- A:0.00NS EA 420
    rs1410708471,2
    --47507381(+) TCAACA/GTGACT 1 -- us2k10--------
    rs1501674761,2
    --47507427(+) GCAACA/CGTGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARFGEF2 (47538275 - 47653230 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ARFGEF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3411CNV Insertion18451855
    esv2616333CNV Insertion19546169

    Human Gene Mutation Database (HGMD): ARFGEF2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARFGEF2
    DNA2.0 Custom Variant and Variant Library Synthesis for ARFGEF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605371   
    OMIM disorders: 608097  
    UniProtKB/Swiss-Prot: BIG2_HUMAN, Q9Y6D5
  • Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: A developmental disorder characterized by the
    presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate
    normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is
    an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent
    infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal
    endocrine or other conditions, are associated with PVNH2. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20 diseases for ARFGEF2:    
    About MalaCards
    periventricular heterotopia with microcephaly    periventricular heterotopia, autosomal recessive    periventricular nodular heterotopia    periventricular heterotopia
    pseudobulbar palsy    neuronal migration disorders    microcephaly    lissencephaly
    intellectual disability    huntington's disease    breast and colorectal cancer    cerebritis
    tonsillitis    neuronitis    colorectal cancer    thyroiditis
    multiple myeloma    myeloma    prostatitis    endotheliitis

    3 diseases from the University of Copenhagen DISEASES database for ARFGEF2:
    Periventricular nodular heterotopia     Microcephaly     Pseudobulbar palsy

    ARFGEF2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ARFGEF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    periventricular nodular heterotopia 92.1 5 16320251 (1), 18996916 (1), 14647276 (1), 16413268 (1)
    microcephaly 65.7 6 14647276 (1), 16684786 (1), 15996530 (1), 16413268 (1)


    Export disorders for ARFGEF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARFGEF2 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with ARFGEF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors. (PubMed id 10212200)1, 2, 3, 9 Togawa A.... Vaughan M. (J. Biol. Chem. 1999)
    2. Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide- exchange protein, with exocyst protein Exo70. (PubMed id 15705715)1, 2, 9 Xu K.F.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    3. Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma. (PubMed id 17360629)1, 2, 9 Kuroda F.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    4. Association of brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2) with recycling endosomes during transferrin uptake. (PubMed id 16477018)1, 2, 9 Shen X.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    5. Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2). (PubMed id 12571360)1, 2, 9 Li H.... Vaughan M. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    6. The brefeldin A-inhibited guanine nucleotide-exchange protein, BIG2, regulates the constitutive release of TNFR1 exosome-like vesicles. (PubMed id 17276987)1, 2, 9 Islam A.... Levine S.J. (J. Biol. Chem. 2007)
    7. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. (PubMed id 14647276)1, 2, 9 Sheen V.L....Walsh C.A. (Nat. Genet. 2004)
    8. cAMP-dependent protein kinase A (PKA) signaling induces TNFR1 exosome-like vesicle release via anchoring of PKA regulatory subunit RIIbeta to BIG2. (PubMed id 18625701)1, 2, 9 Islam A....Levine S.J. (J. Biol. Chem. 2008)
    9. Specific functions of BIG1 and BIG2 in endomembrane organization. (PubMed id 20360857)1, 2 Boal F. and Stephens D.J. (PLoS ONE 2010)
    10. 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. (PubMed id 16866877)1, 2 Ishizaki R.... Nakayama K. (Genes Cells 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10564 HGNC: 15853 AceView: ARFGEF2 Ensembl:ENSG00000124198 euGenes: HUgn10564
    ECgene: ARFGEF2 H-InvDB: ARFGEF2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARFGEF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARFGEF2 gene:
    Search GeneIP for patents involving ARFGEF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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