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ARHGEF3 Gene

protein-coding   GIFtS: 63
GCID: GC03M056736

Rho Guanine Nucleotide Exchange Factor (GEF) 3

  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
Rho Guanine Nucleotide Exchange Factor (GEF) 31 2     GEF32
XPLN1 2 3 5     STA32
Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues1 3     Exchange Factor Found In Platelets And Leukemic And Neuronal Tissues, XPLN2
RhoGEF Protein1 2     Rho Guanine Nucleotide Exchange Factor 32
59.8 KDA Protein2     

External Ids:    HGNC: 6831   Entrez Gene: 506502   Ensembl: ENSG000001639477   OMIM: 6121155   UniProtKB: Q9NR813   

Export aliases for ARHGEF3 gene to outside databases

Previous GC identifers: GC03M055636 GC03M056119 GC03M056616 GC03M056718


(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 ARHGEF3 Gene:
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and
inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors
(GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes
a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and
RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene
plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in
postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGEF3 Gene:
ARHGEF3 (Rho guanine nucleotide exchange factor (GEF) 3) is a protein-coding gene. Diseases associated with ARHGEF3 include hypochromic anemia, and osteoporosis. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF2.

UniProtKB/Swiss-Prot: ARHG3_HUMAN, Q9NR81
Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases

Gene Wiki entry for ARHGEF3 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_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGEF3 gene promoter:
         GR   Sox5   p53   FOXD1   E47   CREB   PPAR-alpha   deltaCREB   ARP-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGEF3 promoter sequence
   Search Chromatin IP Primers for ARHGEF3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGEF3


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

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p14.3

ARHGEF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M056736:  view genomic region     (about GC identifiers)

Start:
56,761,446 bp from pter      End:
57,113,357 bp from pter
Size:
351,912 bases      Orientation:
minus 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: ARHG3_HUMAN, Q9NR81 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 3  
Size: 526 amino acids; 59783 Da
Subunit: Interacts with RHOA and RHOB
Sequence caution: Sequence=AAH68513.1; Type=Erroneous initiation; Sequence=BAB14891.1; Type=Erroneous initiation;
Sequence=BAD92898.1; Type=Erroneous initiation;
Secondary accessions: A8K5U7 Q4FZB6 Q4QQI5 Q4QQQ0 Q59F00 Q6NUN3 Q7Z4U2 Q7Z5T2 Q9H7T4
Alternative splicing: 4 isoforms:  Q9NR81-1   Q9NR81-2   Q9NR81-3   Q9NR81-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARHGEF3: NX_Q9NR81

Explore proteomics data for ARHGEF3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys249
  • Modification sites at PhosphoSitePlus

  • See ARHGEF3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001122087.1  NP_001122088.1  NP_001276627.1  NP_062455.1  

    ENSEMBL proteins: 
     ENSP00000296315   ENSP00000341071   ENSP00000410922   ENSP00000417810   ENSP00000420420  
     ENSP00000418826   ENSP00000417986   ENSP00000417087   ENSP00000420402   ENSP00000418984  
     ENSP00000418469   ENSP00000420633  
    Reactome Protein details: Q9NR81

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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:
    ARHGEF: Rho guanine nucleotide exchange factors

    5 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR015721 RhoGEF-like
     IPR001331 GDS_CDC24_CS

    Graphical View of Domain Structure for InterPro Entry Q9NR81

    ProtoNet protein and cluster: Q9NR81

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


    UniProtKB/Swiss-Prot: ARHG3_HUMAN, Q9NR81
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain


    ARHGEF3 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: ARHG3_HUMAN, Q9NR81
    Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
         
    ARHGEF3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ARHGEF3:
     Decreased focal adhesion (FA)  

    Animal Models:
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARHGEF3 (see all 99):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF3 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
    ARHG3_HUMAN, Q9NR81: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005829cytosol TAS--

    ARHGEF3 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 ARHGEF3 About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    GPCR Pathway0.62
    Breast Cancer Regulation by Stathmin10.58
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARHGEF3 (see all 21)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Interferon Pathway
    G-AlphaI Signaling

    2 GeneGo (Thomson Reuters) Pathways for ARHGEF3
        G-protein signaling RhoB regulation pathway
    G-protein signaling RhoA regulation pathway

    1 BioSystems Pathway for ARHGEF3
        Regulation of RhoA activity


    3 Reactome Pathways for ARHGEF3
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle



    ARHGEF3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGEF3
    Interactions:

        Search GeneGlobe Interaction Network for ARHGEF3

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

    Selected Interacting proteins for ARHGEF3 (Q9NR813 ENSP000003410714) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    RHOBP627453, ENSP000002722334I2D: score=2 STRING: ENSP00000272233
    SHC1P293533I2D: score=2 
    RASL10BENSP000002688644STRING: ENSP00000268864
    SUMO4ENSP000003186354STRING: ENSP00000318635
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007266Rho protein signal transduction TAS10873612
    GO:0032319regulation of Rho GTPase activity TAS10873612
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0035556intracellular signal transduction ----

    ARHGEF3 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 Tocris compounds for ARHGEF3 (ARHG3)

    3 HMDB Compounds for ARHGEF3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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 ARHGEF3 gene (4 alternative transcripts): 
    NM_001128615.1  NM_001128616.1  NM_001289698.1  NM_019555.2  

    Unigene Cluster for ARHGEF3:

    Rho guanine nucleotide exchange factor (GEF) 3
    Hs.476402  [show with all ESTs]
    Unigene Representative Sequence: NM_001128616
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296315(uc003dig.2 uc010hmy.1) ENST00000338458(uc011bew.1 uc003dih.2)
    ENST00000413728(uc011bev.1 uc003dif.2) ENST00000465659 ENST00000496106
    ENST00000497267 ENST00000495373(uc003dii.2) ENST00000468727 ENST00000473779
    ENST00000481422 ENST00000498517 ENST00000477833 ENST00000477440 ENST00000468466
    ENST00000486829
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    hsa-miR-548j hsa-miR-3607-3p hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d
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    Additional mRNA sequence: 

    AB209661.1 AF249744.1 AF433662.1 AK024340.1 AK225688.1 AK291412.1 AK293864.1 AK300045.1 
    AK302493.1 AK308178.1 AL136832.1 BC022249.1 BC054345.1 BC068513.1 BC098122.1 BC098272.1 
    BC099715.1 BC104723.1 

    14 DOTS entries:

    DT.416526  DT.100723381  DT.97820571  DT.91763225  DT.100705297  DT.100767802  DT.95349033  DT.95363358 
    DT.100682932  DT.120919768  DT.120919779  DT.95247862  DT.100689594  DT.100694817 

    Selected AceView cDNA sequences (see all 205):

    AA195613 BF589333 AA887559 AA262897 CD172348 AI968636 N94209 CR594043 
    AI025137 CR603400 AI299554 AF249744 BM851180 AA523981 AA830261 AI366951 
    BX111634 BM679805 BC054345 AW518700 AA234335 AL524994 CA395507 AA977699 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                    -     -     -                                                               
    SP2:                                -                                                               
    SP3:                                                                                                
    SP4:                                -                             -                                 


    ECgene alternative splicing isoforms for ARHGEF3

    (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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    ARHGEF3 expression in normal human tissues (normalized intensities)      ARHGEF3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAATTTTT
    ARHGEF3 Expression
    About this image


    ARHGEF3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Blood (Cardiovascular System)
             T-Cytotoxic Cells Thymus
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
    ARHGEF3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGEF3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476402

    UniProtKB/Swiss-Prot: ARHG3_HUMAN, Q9NR81
    Tissue specificity: Widely expressed. Highest levels are found in adult brain and skeletal muscle. Lower levels
    are found in heart and kidney

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

    Orthologs for ARHGEF3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef31 , 5 Rho guanine nucleotide exchange factor (GEF) 31, 5 85.82(n)1
    92.07(a)1
      14 (16.09 cM)5
    717041  NM_027871.11  NP_082147.11 
     272380395 
    chicken
    (Gallus gallus)
    Aves ARHGEF31 Rho guanine nucleotide exchange factor (GEF) 3 79.07(n)
    87.4(a)
      416000  NM_001030595.1  NP_001025766.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF36
    Rho guanine nucleotide exchange factor (GEF) 3
    82(a)
    1 ↔ 1
    2(162745945-162921163)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX849584.12   -- 77.18(n)    BX849584.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef31 Rho guanine nucleotide exchange factor (GEF) 3 70.89(n)
    79(a)
      570228  NM_001082868.1  NP_001076337.1 
    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;...
    8(a)
    7(a)
    many ↔ many
    many ↔ many
    VII(627806-631273) YGR070W
    XII(862714-866784) YLR371W


    ENSEMBL Gene Tree for ARHGEF3 (if available)
    TreeFam Gene Tree for ARHGEF3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGEF3 gene
    ARHGEF22  ARHGEF112  ARHGEF12  ENSG000002688612  NET12  ARHGEF122  AKAP132  ARHGEF182  
    ARHGEF282  
    1 SIMAP similar gene for ARHGEF3 using alignment to 10 protein entries:     ARHG3_HUMAN (see all proteins):
    NET1

    ARHGEF3 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 ARHGEF3 (see all 6583)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776363601,2
    C,F--56760991(+) CTTACG/ACCTGT 3 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1435238221,2
    --56761140(+) TCCCAC/GTTACT 3 -- ds50010--------
    rs1471680651,2
    C--56761285(+) GTTCTA/GTGAAA 3 -- ds50010--------
    rs1394423491,2
    C--56761291(+) TGAAAA/GTTTTG 3 -- ds50010--------
    rs1496712111,2
    --56761344(+) TAAAGC/TTTGTA 3 -- ds50010--------
    rs712947231,2
    C--56761389(-) TTCCT-/GGG   
       
    /GGGG
    GGGGA
    6 -- ds5001 cds11NA 2
    rs1853992821,2
    --56761394(+) CAGGAA/GCACAG 3 -- ds50010--------
    rs1443756771,2
    --56761501(+) CCATTA/TTACAA 3 -- ut310--------
    rs1487917511,2
    --56761513(+) AACATG/TCATTT 3 -- ut310--------
    rs8081,2
    C,F,A,H--56761650(+) CACCAA/GTAAAG 3 -- ut31 ese328Minor allele frequency- G:0.16MN NS EA NA WA 3326

    HapMap Linkage Disequilibrium report for ARHGEF3 (56761446 - 57011446 bp, first 250kb of ARHGEF3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARHGEF3 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725308CNV Deletion23290073
    esv2670903CNV Deletion23128226
    esv2676065CNV Deletion23128226
    esv2666251CNV Deletion23128226
    esv2666798CNV Deletion23128226
    esv2660634CNV Deletion23128226
    esv272491CNV Insertion20981092
    nsv512803CNV Insertion21212237
    esv1700976CNV Insertion17803354
    nsv507095CNV Insertion20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGEF3
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGEF3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612115    OMIM disorders: --

    12 diseases for ARHGEF3:    About MalaCards
    hypochromic anemia    osteoporosis    neuronitis    spasticity
    mental retardation    rheumatoid arthritis    arthritis    obesity
    adenocarcinoma    pancreatitis    leukemia    breast cancer


    ARHGEF3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGEF3
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF3 (7 documents)

    Export disorders for ARHGEF3 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 ARHGEF3 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with ARHGEF3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (PubMed id 10873612)1, 2, 3 Thiesen S.... Nothwang H.G. (Biochem. Biophys. Res. Commun. 2000)
    2. XPLN, a guanine nucleotide exchange factor for RhoA and RhoB, but not RhoC. (PubMed id 12221096)1, 2, 9 Arthur W.T.... Wennerberg K. (J. Biol. Chem. 2002)
    3. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. (PubMed id 21452313)1, 4 Freudenberg J....Bae S.C. (Arthritis Rheum. 2011)
    4. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. (PubMed id 19727905)1, 4 Li G.H....Huang Q.Y. (Osteoporos Int 2010)
    7. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    8. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (Nat. Genet. 2009)
    9. Further genetic evidence suggesting a role for the RhoGTPase-RhoGEF pathway in osteoporosis. (PubMed id 19427924)1, 4 Mullin B.H....Wilson S.G. (Bone 2009)
    10. A genome-wide association study identifies three loci associated with mean platelet volume. (PubMed id 19110211)1, 4 Meisinger C....DAPring A. (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 50650 HGNC: 683 AceView: ARHGEF3 Ensembl:ENSG00000163947 euGenes: HUgn50650
    ECgene: ARHGEF3 H-InvDB: ARHGEF3

    (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 ARHGEF3 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 ARHGEF3 gene:
    Search GeneIP for patents involving ARHGEF3

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



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