Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ARHGEF9 Gene

protein-coding   GIFtS: 61
GCID: GC0XM062771

Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9

  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)
About This Section

Aliases
Cdc42 Guanine Nucleotide Exchange Factor (GEF) 91 2     COLLYBISTIN2
Rac/Cdc42 Guanine Nucleotide Exchange Factor 92 3     HPEM-22
PEM-2 Homolog2 3     PEM-22
EIEE82 5     HPEM-2 Collybistin2
PEM22 5     Rho Guanine Nucleotide Exchange Factor 92
KIAA04243 5     ARHDH93
collybistin1     Collybistin3

External Ids:    HGNC: 145611   Entrez Gene: 232292   Ensembl: ENSG000001310897   OMIM: 3004295   UniProtKB: O433073   

Export aliases for ARHGEF9 gene to outside databases

Previous GC identifers: GC0XM059065 GC0XM060320 GC0XM061088 GC0XM061722 GC0XM061723 GC0XM062637 GC0XM056681


(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 ARHGEF9 Gene:
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and
inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease
with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Mar 2010)

GeneCards Summary for ARHGEF9 Gene: 
ARHGEF9 (Cdc42 guanine nucleotide exchange factor (GEF) 9) is a protein-coding gene. Diseases associated with ARHGEF9 include epileptic encephalopathy, early infantile, 8, and arhgef9-related hyperekplexia, and among its related super-pathways are NRAGE signals death through JNK and Ras Pathway. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.

UniProtKB/Swiss-Prot: ARHG9_HUMAN, O43307
Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters

Gene Wiki entry for ARHGEF9 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_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARHGEF9 gene promoter:
         C/EBPbeta   Tal-1   MyoD   LCR-F1   E47   Meis-1b   PPAR-gamma1   PPAR-gamma2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGEF9 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARHGEF9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF9


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

Entrez Gene cytogenetic band: Xq11.1   Ensembl cytogenetic band:  Xq11.2   HGNC cytogenetic band: Xq11.1

ARHGEF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF9 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM062771:  view genomic region     (about GC identifiers)

Start:
62,854,847 bp from pter      End:
63,005,426 bp from pter
Size:
150,580 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: ARHG9_HUMAN, O43307 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 9  
Size: 516 amino acids; 60982 Da
Subunit: Interacts with GPHN
Subcellular location: Cytoplasm
Sequence caution: Sequence=BAA24854.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ARHGEF9:
2YSQ (3D)    
Secondary accessions: A8K1S8 B4DHC7 F8W7P8 Q5JSL6
Alternative splicing: 3 isoforms:  O43307-1   O43307-2   O43307-3   

Explore the universe of human proteins at neXtProt for ARHGEF9: NX_O43307

Explore proteomics data for ARHGEF9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43307

  • ARHGEF9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF9 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001166950.1  NP_001166951.1  NP_056000.1  

    ENSEMBL proteins: 
     ENSP00000253401   ENSP00000364012   ENSP00000364006   ENSP00000399994   ENSP00000364004  
     ENSP00000404478  
    Reactome Protein details: O43307
    Human Recombinant Protein Products for ARHGEF9: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ARHGEF9
    OriGene Protein Over-expression Lysate for ARHGEF9
    OriGene MassSpec for ARHGEF9 
    OriGene Custom Protein Services for ARHGEF9
    GenScript Custom Purified and Recombinant Proteins Services for ARHGEF9
    Novus Biologicals ARHGEF9 Protein
    Novus Biologicals ARHGEF9 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ARHGEF9 for ontologies           About GeneDecksing



    ARHGEF9 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ARHGEF9 (Collybistin/ARHGEF9)
    OriGene Antibodies for ARHGEF9
    OriGene Custom Antibody Services for ARHGEF9
    GenScript Custom Superior Antibodies Services for ARHGEF9
    Novus Biologicals ARHGEF9 Antibodies
    Abcam antibodies for ARHGEF9
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for ARHGEF9
    LSBio Antibodies in human, mouse, rat for ARHGEF9 

    Assay Products for ARHGEF9: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ARHGEF9
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ARHGEF9
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry O43307

    ProtoNet protein and cluster: O43307

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHG9_HUMAN, O43307
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    ARHGEF9 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: ARHG9_HUMAN, O43307
    Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    ARHGEF9 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARHGEF9:
     Actin fiber cells  Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgef9):
     behavior/neurological  nervous system 

    ARHGEF9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arhgef9tm1.1Betz for ARHGEF9

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARHGEF9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARHGEF9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARHGEF9 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARHGEF9
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF9 (see all 49):
    hsa-miR-3678-3p hsa-miR-219-1-3p hsa-miR-520f hsa-miR-15a hsa-miR-513a-5p hsa-miR-16-1* hsa-miR-578 hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARHGEF9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARHGEF9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ARHGEF9
    Sirion Biotech Customized adenovirus for overexpression of ARHGEF9

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ARHGEF9 (see all 13)
    OriGene ORF clones in mouse, rat for ARHGEF9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGEF9 (NM_015185)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGEF9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGEF9
    Sirion Biotech Customized lentivirus for stable overexpression of ARHGEF9 
                         Customized lentivirus expression plasmids for stable overexpression of ARHGEF9 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ARHGEF9
    Search LifeMap BioReagents cell lines for ARHGEF9
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF9


    (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 ARHGEF9 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell 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
    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 Transduction0.55
    GPCR downstream signaling0.90
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5G-AlphaQ Signaling
    G-AlphaQ Signaling0.47
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/21 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARHGEF9 (see all 21)
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Interferon Pathway
    G-AlphaI Signaling

    1 BioSystems Pathway for ARHGEF9
        Regulation of CDC42 activity

    5/18        Reactome Pathways for ARHGEF9 (see all 18)
        Ligand-gated ion channel transport
    G alpha (12/13) signalling events
    Transmission across Chemical Synapses
    Cell death signalling via NRAGE, NRIF and NADE
    Neuronal System



    ARHGEF9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARHGEF9

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

    5/55 Interacting proteins for ARHGEF9 (O433073 ENSP000002534014) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKHA5Q9HAU03, ENSP000002992754I2D: score=3 STRING: ENSP00000299275
    SMURF1Q9HCE73, ENSP000003546214I2D: score=2 STRING: ENSP00000354621
    GPHNQ9NQX33, ENSP000003030194I2D: score=2 STRING: ENSP00000303019
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ARHGEF1ENSP000003372614STRING: ENSP00000337261
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0043065positive regulation of apoptotic process TAS--

    ARHGEF9 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARHGEF9 (ARHG9)

    3 HMDB Compounds for ARHGEF9    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--

    Search CenterWatch for drugs/clinical trials and news about ARHGEF9 / ARHG9

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 ARHGEF9 gene (3 alternative transcripts): 
    NM_001173479.1  NM_001173480.1  NM_015185.2  

    Unigene Cluster for ARHGEF9:

    Cdc42 guanine nucleotide exchange factor (GEF) 9
    Hs.54697  [show with all ESTs]
    Unigene Representative Sequence: NM_015185
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253401(uc011mos.1 uc004dvk.1 uc004dvm.1 uc004dvl.2)
    ENST00000374878(uc004dvn.3) ENST00000495564 ENST00000498761 ENST00000466925
    ENST00000374872 ENST00000437457(uc011mot.2) ENST00000374870(uc004dvj.2)
    ENST00000433323
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARHGEF9
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF9 (see all 49):
    hsa-miR-3678-3p hsa-miR-219-1-3p hsa-miR-520f hsa-miR-15a hsa-miR-513a-5p hsa-miR-16-1* hsa-miR-578 hsa-miR-219-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARHGEF9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARHGEF9
    Clone
    Products:
         
    OriGene clones in human, mouse for ARHGEF9 (see all 13)
    OriGene ORF clones in mouse, rat for ARHGEF9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGEF9 (NM_015185)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGEF9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGEF9
    Sirion Biotech Customized lentivirus for stable overexpression of ARHGEF9 
                         Customized lentivirus expression plasmids for stable overexpression of ARHGEF9 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ARHGEF9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARHGEF9
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARHGEF9
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARHGEF9

    Additional mRNA sequence: 

    AB007884.1 AK289993.1 AK294721.1 AK295033.1 AK295178.1 AL832116.1 BC018106.1 BC043497.1 
    BC046138.1 BC056892.1 BC117406.1 

    15 DOTS entries:

    DT.445893  DT.101982473  DT.100716132  DT.99954197  DT.100780346  DT.75101905  DT.91698586  DT.100024054 
    DT.91692411  DT.95275957  DT.97818044  DT.100008742  DT.121316486  DT.95338460  DT.97824153 

    24/179 AceView cDNA sequences (see all 179):

    BC018106 AI435829 AL119565 BC046138 BX476861 BM679685 AA602530 BM805331 
    AI240728 BE672957 AA631645 AW628980 BI714832 AL600805 Z42511 F12909 
    AA147105 AW015409 CD723776 AI969743 BE675813 BM717563 BE728859 CR592615 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF9    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                                                              
    SP2:              -     -                                                         


    ECgene alternative splicing isoforms for ARHGEF9

    (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

    ARHGEF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARHGEF9 Expression
    About this image


    See ARHGEF9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF9

    SOURCE GeneReport for Unigene cluster: Hs.54697

    UniProtKB/Swiss-Prot: ARHG9_HUMAN, O43307
    Tissue specificity: Detected in brain. Detected at low levels in heart

        SABiosciences Custom PCR Arrays for ARHGEF9
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ARHGEF9
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARHGEF9
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARHGEF9
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARHGEF9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF9

    (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.

    Orthologs for ARHGEF9 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef91 , 5 CDC42 guanine nucleotide exchange factor (GEF) 91, 5 93.37(n)1
    98.83(a)1
      X (41.85 cM)5
    2369151  NM_001033329.21  NP_001028501.11 
     950489355 
    chicken
    (Gallus gallus)
    Aves ARHGEF91 Cdc42 guanine nucleotide exchange factor (GEF) 9 84.12(n)
    94.12(a)
      422315  XM_420291.3  XP_420291.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ARHGEF96
    Uncharacterized protein
    85(a)
    79(a)
    possible ortholog
    1 ↔ 1
    GL344133.1(2701-78545)
    GL343735.1(2400-16460)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5598681 rho guanine nucleotide exchange factor 9-like 76.02(n)
    84.8(a)
      559868  XM_001923406.1  XP_001923441.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GEFmeso6
    Guanine nucleotide exchange factor in mesoderm
    6(a)
    1 → many
    2R(14441624-14499260)
    worm
    (Caenorhabditis elegans)
    Secernentea uig-16
    Protein UIG-1, isoform d
    9(a)
    1 → many
    V(13273567-13295913)


    ENSEMBL Gene Tree for ARHGEF9 (if available)
    TreeFam Gene Tree for ARHGEF9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF9 gene
    ARHGEF62  VAV12  PLEKHG22  PLEKHG32  PREX22  ARHGEF72  TIAM12  SPATA132  
    TIAM22  VAV32  VAV22  ARHGEF42  PREX12  PLEKHG12  
    6 SIMAP similar genes for ARHGEF9 using alignment to 4 protein entries:     ARHG9_HUMAN (see all proteins):
    SPATA13    DKFZp434G2016    ARHGEF4    ARHGEF7    PREX2    PREX1

    ARHGEF9 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

    10/1553 SNPs in ARHGEF9 are shown (see all 1553)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0287524
    Epileptic encephalopathy, early infantile, 8 (EIEE8)4--see VAR_0287522 G A mis40--------
    VAR_0693704
    ----see VAR_0693702 E K mis40--------
    rs1868209621,2
    --62861353(+) CAGGAC/TCAAAG 3 -- ds50010--------
    rs1400503361,2
    C--62861588(+) GATCAA/GACATA 3 -- ds50010--------
    rs724469261,2
    C--62861747(+) CAAAA-/ACCACAC 3 -- ds50010--------
    rs2017165741,2
    C--62862128(+) GGGGG-/AAAAAA 3 -- ut310--------
    rs1896619691,2
    --62862182(+) TCCCAC/TTGAAC 3 -- ut310--------
    rs10480441,2
    C--62862303(-) GTCCTG/AACAGC 3 -- ut31 ese32Minor allele frequency- A:0.00NA 4
    rs1825577151,2
    --62862488(+) AAGTGC/TGGGTT 3 -- ut310--------
    rs1884027201,2
    C--62862658(+) AAGGAA/GGAGTG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for ARHGEF9 (62854847 - 63005426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ARHGEF9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1584074OTHER Inversion17803354


    Human Gene Mutation Database (HGMD): ARHGEF9
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGEF9
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGEF9

    (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: 300429   
    OMIM disorders: 300607  
    UniProtKB/Swiss-Prot: ARHG9_HUMAN, O43307
  • Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]: A disorder characterized by
    hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle
    response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile
    stimulation or extreme emotion. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 10 diseases for ARHGEF9:    About MalaCards
    epileptic encephalopathy, early infantile, 8    arhgef9-related hyperekplexia    hyperekplexia    intellectual disability
    spasticity    mental retardation    adenocarcinoma    pancreatitis
    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ARHGEF9:
    Intellectual disability

    ARHGEF9 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ARHGEF9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperekplexia 95.2 4 18946534 (1), 15215304 (1)

    GeneTests: ARHGEF9
    GeneReviews: ARHGEF9
    Genetic Association Database (GAD): ARHGEF9
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF9 (1 document)

    Export disorders for ARHGEF9 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 ARHGEF9 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with ARHGEF9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42. (PubMed id 10559246)1, 2, 3 Reid T.... Collard J.G. (1999)
    2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2, 3 Ishikawa K....Ohara O. (1997)
    3. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. (PubMed id 15215304)1, 2, 9 Harvey K.... Harvey R.J. (2004)
    4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. (PubMed id 18615734)1, 9 Kalscheuer V.M....Harvey R.J. (2009)
    8. Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin. (PubMed id 10607391)1, 9 Kins S....Kirsch J. (2000)
    9. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (2012)
    10. Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin. (PubMed id 22778260)1 Kuhse J....Kirsch J. (2012)

    (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: 23229 HGNC: 14561 AceView: ARHGEF9 Ensembl:ENSG00000131089 euGenes: HUgn23229
    ECgene: ARHGEF9 H-InvDB: ARHGEF9

    (According to HUGE)
    About This Section
    HUGE: KIAA0424

    (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 ARHGEF9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARHGEF9

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARHGEF9 gene:
    Search GeneIP for patents involving ARHGEF9

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ARHGEF9 (Collybistin/ARHGEF9)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ARHGEF9   OriGene RNAi products in human, mouse, rat for ARHGEF9  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ARHGEF9  
     OriGene MassSpec something-or-other for ARHGEF9   OriGene clones in human, mouse for ARHGEF9  
     OriGene qSTAR qPCR primer pairs in human, mouse for ARHGEF9   OriGene Purified Protein for ARHGEF9  
     OriGene ORF clones in mouse, rat for ARHGEF9   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ARHGEF9   OriGene Custom Protein Services for ARHGEF9  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARHGEF9
     QIAGEN SeqTarget long-range PCR primers for resequencing ARHGEF9
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF9
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARHGEF9
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARHGEF9
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARHGEF9
     GenScript Custom Purified and Recombinant Proteins Services for ARHGEF9 GenScript cDNA clones with any tag delivered in your preferred vector for ARHGEF9
     GenScript Custom Assay Services for ARHGEF9 GenScript Custom Superior Antibodies Services for ARHGEF9
     GenScript Custom overexpressing Cell Line Services for ARHGEF9 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ARHGEF9 promoter
     Search Chromatin IP Primers for ARHGEF9
     RT2 qPCR Primer Assay in human, mouse, rat ARHGEF9
     GNC Network for ARHGEF9
     SABiosciences PCR Arrays including human, mouse, rat ARHGEF9
     Search Tocris compounds for ARHGEF9 (ARHG9)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ARHGEF9 antibodies
     ARHGEF9 proteins
     ARHGEF9 lysates
     Antibodies for ARHGEF9
     See all of Abcam's Antibodies, Kits and Proteins for ARHGEF9
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for ARHGEF9
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF9
     Browse SwitchGear 3'UTR luciferase reporter plasmids for ARHGEF9
     SwitchGear Promoter luciferase reporter plasmids for ARHGEF9
     ThermoFisher Antibodies for ARHGEF9
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGEF9
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ARHGEF9
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARHGEF9
    Customized:
     lentivirus for stable overexpression of ARHGEF9
     lentivirus expression plasmids for stable overexpression of ARHGEF9
     adenovirus for overexpression of ARHGEF9
     LSBio Antibodies in human, mouse, rat for ARHGEF9
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ARHGEF9 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4