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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARHGEF2 Gene

protein-coding   GIFtS: 62
GCID: GC01M155916

Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 2

(Previous name: rho/rac guanine nucleotide exchange factor (GEF) 2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 21 2     GEFH12 5
Guanine Nucleotide Exchange Factor H12 3     KIAA06513 5
Microtubule-Regulated Rho-GEF2 3     GEF2
Proliferating Cell Nucleolar Antigen P402 3     P402
GEF-H12 3     Rho Guanine Nucleotide Exchange Factor 22
LFP402 3     Rho/Rac Guanine Nucleotide Exchange Factor 22

External Ids:    HGNC: 6821   Entrez Gene: 91812   Ensembl: ENSG000001165847   OMIM: 6075605   UniProtKB: Q929743   

Export aliases for ARHGEF2 gene to outside databases

Previous GC identifers: GC01M153779 GC01M151676 GC01M152694 GC01M153133 GC01M152729 GC01M154183 GC01M127277


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARHGEF2 Gene:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli
that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate
rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been
identified.(provided by RefSeq, Jun 2009)

GeneCards Summary for ARHGEF2 Gene: 
ARHGEF2 (Rho/Rac guanine nucleotide exchange factor (GEF) 2) is a protein-coding gene. Diseases associated with ARHGEF2 include paralysis, and motor neuron disease, and among its related super-pathways are Development Slit-Robo signaling and NRAGE signals death through JNK. GO annotations related to this gene include microtubule binding and phospholipid binding. An important paralog of this gene is ARHGEF12.

UniProtKB/Swiss-Prot: ARHG2_HUMAN, Q92974
Function: Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier
permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell
differentiation, cell cycle regulation, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide
exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the
cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system
along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and
RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in
sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also
in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and
the activation of RhoA

Gene Wiki entry for ARHGEF2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARHGEF2 gene promoter:
         POU2F1   Sp1   p53   POU2F1a   FOXO1a   STAT5A   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARHGEF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARHGEF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF2


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

Entrez Gene cytogenetic band: 1q21-q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21-q22

ARHGEF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155916:  view genomic region     (about GC identifiers)

Start:
155,916,630 bp from pter      End:
155,972,355 bp from pter
Size:
55,726 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARHG2_HUMAN, Q92974 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 2  
Size: 986 amino acids; 111543 Da
Subunit: Interacts with YWHAZ/14-3-3 zeta; when phosphorylated at Ser-886. Interacts with the kinases PAK4, AURKA
and MAPK1. Interacts with RHOA and RAC1. Interacts with NOD1. Interacts (via the N-terminal zinc finger) with
CAPN6 (via domain II) (By similarity)
Subcellular location: Cytoplasm. Cell junction, tight junction. Golgi apparatus. Cytoplasm, cytoskeleton, spindle.
Cell projection, ruffle membrane. Note=Localizes to the tips of cortical microtubules of the mitotic spindle
during cell division, and is further released upon microtubule depolymerization. Recruited into membrane ruffles
induced by S.flexneri at tight junctions of polarized epithelial cells
Sequence caution: Sequence=AAC97383.1; Type=Miscellaneous discrepancy; Note=Sequence differs at a large extent
from the sequence shown in the paper; Sequence=AAH20567.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=BAA31626.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA33634.1; Type=Frameshift; Positions=887, 984;
Secondary accessions: D3DVA6 O75142 Q15079 Q5VY92 Q8TDA3 Q8WUG4 Q9H023
Alternative splicing: 3 isoforms:  Q92974-1   Q92974-2   Q92974-3   

Explore the universe of human proteins at neXtProt for ARHGEF2: NX_Q92974

Explore proteomics data for ARHGEF2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-886 by PAK1 induces binding to protein YWHAZ, promoting its relocation to microtubules and
    the inhibition of its activity. Phosphorylated by AURKA and CDK1 during mitosis, which negatively regulates its
    activity. Phosphorylation by MAPK1 or MAPK3 increases nucleotide exchange activity. Phosphorylation by PAK4
    releases GEF-H1 from the microtubules
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92974

  • ARHGEF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001155855.1  NP_001155856.1  NP_004714.2  

    ENSEMBL proteins: 
     ENSP00000315325   ENSP00000354837   ENSP00000357298   ENSP00000314787   ENSP00000357299  
    Reactome Protein details: Q92974
    Human Recombinant Protein Products for ARHGEF2: 
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    Cloud-Clone Corp. Proteins for ARHGEF2 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005794Golgi apparatus IEA--
    GO:0005819spindle IEA--
    GO:0005829cytosol TAS--
    GO:0005874microtubule IDA--

    ARHGEF2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    5 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd
     IPR011993 PH_like_dom
     IPR015721 RhoGEF-like

    Graphical View of Domain Structure for InterPro Entry Q92974

    ProtoNet protein and cluster: Q92974

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHG2_HUMAN, Q92974
    Domain: The DH (DBL-homology) domain interacts with and promotes loading of GTP on RhoA
    Domain: The PH (pleckstrin-homology) domain is involved in microtubule binding and targeting to tight junctions
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger


    ARHGEF2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARHG2_HUMAN, Q92974
    Function: Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier
    permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell
    differentiation, cell cycle regulation, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide
    exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the
    cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system
    along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and
    RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in
    sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also
    in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and
    the activation of RhoA

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IDA9857026
    GO:0005515protein binding IPI14970201
    GO:0005543phospholipid binding IEA--
    GO:0008017microtubule binding IDA9857026
    GO:0008134transcription factor binding ISS--
         
    ARHGEF2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Arhgef2 (no phenotypes)

    ARHGEF2 for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidARHGEF2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARHGEF2 About   (see all 27)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    2Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    3GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    GPCR Pathway0.62
    Breast Cancer Regulation by Stathmin10.58
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    5G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for ARHGEF2
        G-protein signaling RhoB regulation pathway
    G-protein signaling RhoA regulation pathway
    G-protein signaling Regulation of RAC1 activity

    5/22 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARHGEF2 (see all 22)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Interferon Pathway
    G-AlphaI Signaling

    1 Cell Signaling Technology (CST) Pathway for ARHGEF2
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for ARHGEF2
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling RhoB regulation pathway
    G-protein signaling RhoA regulation pathway

    4 BioSystems Pathways for ARHGEF2
        Pathogenic Escherichia coli infection
    Regulation of RhoA activity
    Reelin signaling pathway
    Regulation of RAC1 activity

    5/10        Reactome Pathways for ARHGEF2 (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR


    1         Kegg Pathway  (Kegg details for ARHGEF2):
        Pathogenic Escherichia coli infection


    ARHGEF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARHGEF2

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

    5/858 Interacting proteins for ARHGEF2 (Q929742, 3 ENSP000003153254) via UniProtKB, MINT, STRING, and/or I2D (see all 858)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAK1Q131532, 3, ENSP000002785684MINT-7945693 I2D: score=3 STRING: ENSP00000278568
    YWHAEP622582, 3, ENSP000002643354MINT-7947479 I2D: score=2 STRING: ENSP00000264335
    YWHAZP631042, 3, ENSP000003095034MINT-3295597 MINT-8006660 I2D: score=3 STRING: ENSP00000309503
    ARHGEF1Q928882, ENSP000003372614MINT-7945693 MINT-7947479 STRING: ENSP00000337261
    ROCK2O751162, ENSP000003179854MINT-7945693 MINT-7947479 STRING: ENSP00000317985
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation IEA--
    GO:0000902cell morphogenesis IMP11912491
    GO:0006886intracellular protein transport NAS9857026
    GO:0007015actin filament organization IMP9857026
    GO:0007026negative regulation of microtubule depolymerization IMP11912491

    ARHGEF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARHGEF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARHGEF2 (ARHG2)

    10/844 HMDB Compounds for ARHGEF2 (see all 844)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----

    10/22 Novoseek inferred chemical compound relationships for ARHGEF2 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 85.5 45 15850775 (3), 8049218 (2), 7988425 (2), 7581745 (2) (see all 29)
    gtp 80.3 44 8049218 (3), 19356586 (3), 10608844 (2), 7581745 (2) (see all 29)
    guanine 64.5 20 11747824 (1), 16143467 (1), 18470881 (1), 16248653 (1) (see all 17)
    guanosine 54.5 6 9671484 (1), 19000755 (1), 19103205 (1)
    tyrosine 52.9 21 10882715 (3), 10652228 (2), 9099726 (2), 10681520 (1) (see all 16)
    phosphoinositide 40.7 6 9671484 (1), 17007612 (1), 17698854 (1), 12525493 (1) (see all 6)
    phosphatidylinositol 29.8 2 17698854 (1), 20167601 (1)
    phosphatidylinositol-3,4,5-trisphosphate 28.7 2 10848997 (1), 12923183 (1)
    cyclic amp 22.5 3 19273589 (2)
    tech 20.9 2 15686487 (1), 15953360 (1)

    Search CenterWatch for drugs/clinical trials and news about ARHGEF2 / ARHG2

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARHGEF2 gene (3 alternative transcripts): 
    NM_001162383.1  NM_001162384.1  NM_004723.3  

    Unigene Cluster for ARHGEF2:

    Rho/Rac guanine nucleotide exchange factor (GEF) 2
    Hs.743352  [show with all ESTs]
    Unigene Representative Sequence: AB014551
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313695(uc001fmr.2) ENST00000361247(uc001fms.2 uc001fmt.2)
    ENST00000368315 ENST00000477754 ENST00000470541(uc001fmq.2) ENST00000313667
    ENST00000470975 ENST00000474428 ENST00000462460(uc010pgt.1) ENST00000470874
    ENST00000471589 ENST00000497907 ENST00000476273 ENST00000487755 ENST00000465079
    ENST00000495070 ENST00000368316(uc010pgu.1 uc001fmu.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB014551.3 AF486838.1 AK127366.1 AK295924.1 AK304548.1 AL512715.1 AL832538.1 BC020567.1 
    BC027722.1 BT007407.1 X15610.1 

    14 DOTS entries:

    DT.316515  DT.100813340  DT.100813342  DT.206796  DT.100813343  DT.86853275  DT.91853980  DT.92045033 
    DT.433572  DT.95248249  DT.99991668  DT.95248260  DT.100659032  DT.91668651 

    24/293 AceView cDNA sequences (see all 293):

    BU854925 BU540492 CK431120 AA604539 BM545150 AA505099 AW243179 BE501440 
    AW664394 AI420010 AA410859 AA302592 AA235631 BF901364 AW299534 AW051220 
    CA453982 CD672976 BG315198 AW629293 BQ951038 CO246749 BQ707787 AB014551 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF2 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                    -     -           -                                                           -                                                         
    SP2:                    -     -           -                                                           -                                                         
    SP3:                          -           -                                                           -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24a · 24b ^ 25a · 25b
    SP1:              -               
    SP2:              -               
    SP3:              -               
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for ARHGEF2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARHGEF2 expression in normal human tissues (normalized intensities)      ARHGEF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGAAACC
    ARHGEF2 Expression
    About this image


    ARHGEF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             neutrophils   
     
     Testis (Reproductive System)

    See ARHGEF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF2

    SOURCE GeneReport for Unigene cluster: Hs.743352
        SABiosciences Expression via Pathway-Focused PCR Array including ARHGEF2: 
              Tight Junctions in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARHGEF2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef21 , 5 rho/rac guanine nucleotide exchange factor (GEF) 21, 5 84.93(n)1
    88.82(a)1
      3 (38.90 cM)5
    168001  NM_008487.31  NP_032513.31 
     886074545 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF26
    Uncharacterized protein
    74(a)
    1 ↔ 1
    AAWZ02038914(24-9267)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF159239.12   -- 75(n)    AF159239.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef21 rho/rac guanine nucleotide exchange factor (GEF) 2 62.18(n)
    61.92(a)
      561276  XM_684678.5  XP_689770.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101886
    --
    15(a)
    1 → many
    2L(19502335-19508760)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROM16
    ROM26
    GDP/GTP exchange protein (GEP) for Rho1p; mutation...
    GDP/GTP exchange factor (GEF) for Rho1p and Rho2p;...
    9(a)
    8(a)
    many ↔ many
    many ↔ many
    VII(627806-631273)
    XII(862714-866784)


    ENSEMBL Gene Tree for ARHGEF2 (if available)
    TreeFam Gene Tree for ARHGEF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF2 gene
    ARHGEF122  ARHGEF112  AKAP132  ARHGEF182  ARHGEF282  ARHGEF12  ENSG000002688612  
    4 SIMAP similar genes for ARHGEF2 using alignment to 3 protein entries:     ARHG2_HUMAN (see all proteins):
    AKAP13    ARHGEF18    ARHGEF28    ARHGEF1

    ARHGEF2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/616 SNPs in ARHGEF2 are shown (see all 616)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1813240771,2
    --155916244(+) TGAGCA/TGCTCC 3 -- ds50010--------
    rs1854572071,2
    --155916256(+) GTGACA/GGGTAA 3 -- ds50010--------
    rs1491368601,2
    --155916588(+) TGCCCG/TGCTCT 3 -- ds50010--------
    rs2009090001,2
    --155916675(+) CTGAA-/TTTTTT 3 -- ut310--------
    rs120373991,2
    C,H--155916900(+) CCCCCA/C/GGTTAC 6 -- ut316NS EA NA 602
    rs1432578351,2
    --155917172(+) TTCCAC/TGAAGG 3 -- ut310--------
    rs412649951,2
    C,F--155917389(+) ACAAGG/CCCCTC 3 -- ut313Minor allele frequency- C:0.14NA 124
    rs50235141,2
    C,H--155917412(+) CTTGGT/GTCCCA 3 -- ut31 ese36Minor allele frequency- G:0.00NS EA NA 422
    rs727082171,2
    C,F--155917592(+) CCAGGT/AATCCA 3 -- ut312Minor allele frequency- A:0.05CSA NA 121
    rs2009763951,2
    --155917684(+) AGCCCA/CCTCAG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for ARHGEF2 (155916630 - 155972355 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ARHGEF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509513CNV Insertion20534489
    esv33869CNV Loss17666407

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 607560    OMIM disorders: --

    20 diseases for ARHGEF2:    About MalaCards
    paralysis    motor neuron disease    endometritis    lateral sclerosis
    cerebellar ataxia    spasticity    conjunctivitis    amyotrophic lateral sclerosis
    ataxia    blindness    prostate cancer    breast cancer
    prostatitis    gastric cancer    neuronitis    melanoma
    adenocarcinoma    endotheliitis    pancreatitis    leukemia


    ARHGEF2 for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for ARHGEF2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spastic paralysis 66.3 1 14668431 (1)
    motor neuron disease 46.7 1 14668431 (1)
    primary lateral sclerosis 39.7 1 14668431 (1)
    amyotrophic lateral sclerosis 31.2 1 14668431 (1)
    dysplasia 23.2 2 20045932 (1), 18363964 (1)
    shock 0 3 17113038 (1), 16875662 (1)
    breast cancer 0 1 18084281 (1)
    metastasis 0 3 18470881 (1), 20361982 (1), 9348295 (1)
    demyelination 0 1 17564972 (1)
    tumors 0 1 18470881 (1)

    Genetic Association Database (GAD): ARHGEF2
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF2 (3 documents)

    Export disorders for ARHGEF2 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)
    About This Section

    PubMed articles for ARHGEF2 gene, integrated from 9 sources (see all 355):
    (articles sorted by number of sources associating them with ARHGEF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPases. (PubMed id 9857026)1, 2, 3, 9 Ren Y.... Busch H. (1998)
    2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    3. PAK4 mediates morphological changes through the regulation of GEF-H1. (PubMed id 15827085)1, 2, 9 Callow M.G....Smeal T. (2005)
    4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (2010)
    5. GEF-H1 mediated control of NOD1 dependent NF-kappaB activation by Shigella effectors. (PubMed id 19043560)1, 2 Fukazawa A....Reinecker H.C. (2008)
    6. ERK1/2 phosphorylate GEF-H1 to enhance its guanine nucleotide exchange activity toward RhoA. (PubMed id 18211802)1, 2 Fujishiro S.H....Kohno M. (2008)
    7. GEF-H1 modulates localized RhoA activation during cytokinesis under the control of mitotic kinases. (PubMed id 17488622)1, 2 Birkenfeld J....Bokoch G.M. (2007)
    8. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. (PubMed id 18095154)1, 4 Walker L.C....Spurdle A.B. (2007)
    9. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    10. p21-activated kinase 1 phosphorylates and regulates 14-3-3 binding to GEF-H1, a microtubule-localized Rho exchange factor. (PubMed id 14970201)1, 2 Zenke F.T....Bokoch G.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9181 HGNC: 682 AceView: ARHGEF2 Ensembl:ENSG00000116584 euGenes: HUgn9181
    ECgene: ARHGEF2 Kegg: 9181 H-InvDB: ARHGEF2

    (According to HUGE)
    About This Section
    HUGE: KIAA0651

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARHGEF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGEF2 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/ARHGEF2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARHGEF2 gene:
    Search GeneIP for patents involving ARHGEF2

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



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    About This Section

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