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

ARHGEF9 Gene

protein-coding   GIFtS: 60
GCID: GC0XM062771

Cdc42 guanine nucleotide exchange factor (GEF) 9

 Explore 9 diseases affiliated with
ARHGEF9 via our new
 Human Malady Compendium 
Biological research products
for ARHGEF9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cdc42 Guanine Nucleotide Exchange Factor (GEF) 91 2     COLLYBISTIN2
KIAA04241 3 5     HPEM-22
PEM-21 2     HPEM-2 Collybistin2
Rac/Cdc42 Guanine Nucleotide Exchange Factor 92 3     Rho Guanine Nucleotide Exchange Factor 92
PEM-2 Homolog2 3     ARHDH93
EIEE82 5     Collybistin3
PEM22 5     

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43307

  • ARHGEF9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Uscn Proteins for ARHGEF9

    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ARHGEF9 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    Gene Ontology (GO): 2 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:0005543phospholipid binding IEA--


    ARHGEF9 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Arhgef9tm1.1Betz for ARHGEF9
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgef9):
     behavior/neurological  nervous system 

    ARHGEF9 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/23 super-pathways (see all 23About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE1.00
    G alpha (12/13) signalling events0.39
    NRAGE signals death through JNK0.74
    Rho GTPase cycle0.25
    p75 NTR receptor-mediated signalling0.73
    Signaling by Rho GTPases0.25
    2GPCR Pathway
    GPCR Pathway1.00
    Breast Cancer Regulation by Stathmin10.58
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4G-AlphaQ Signaling
    G-AlphaQ Signaling1.00
    Thrombin Signaling0.40
    G-AlphaI Signaling0.47
    5Signaling by GPCR
    Signaling by GPCR1.00
    Signal Transduction0.56
    GPCR downstream signaling0.89

    Pathway sources
    See GeneCards unified pathways
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0035023regulation of Rho protein signal transduction IEA--


    ARHGEF9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for ARHGEF9

    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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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 ENST00000374872 ENST00000498761
    ENST00000466925 ENST00000437457(uc011mot.2) ENST00000374870(uc004dvj.2)
    ENST00000433323

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    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
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    Additional cDNA 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):

    AA835409 AA765435 BM548388 T33542 AA147072 AW137734 BX493460 BC056892 
    BX329681 Z38704 AI291104 AA205325 AA398168 CA433652 CB155352 BM724454 
    AI609268 BU150076 BG476188 AA447710 BX441764 AL044033 CA395484 AI140431 

    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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARHGEF9 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    ARHGEF96
    --
    93(a)
    79(a)
    1 ↔ 1
    possible ortholog
    GL344133.1(2980-19005)
    GL343735.1(2969-16460)
    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 RhoGEF36
    --
    4(a)
    1 → many
    3L(277437-305292)


    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  PLEKHG12  PREX12  
    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, UniProtKB, 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

    10/1282 NCBI SNPs in ARHGEF9 are shown (see all 1282    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1868209621,2
    --62854395(+) CAGGAC/TCAAAG 3 -- ds50010--------
    rs1400503361,2
    C,--62854630(+) GATCAA/GACATA 3 -- ds50010--------
    rs2017165741,2
    --62855170(+) GGGGG-/AAAAAA 3 -- ut310--------
    rs1896619691,2
    --62855224(+) TCCCAC/TTGAAC 3 -- ut310--------
    rs10480441,2
    C--62855345(-) GTCCTG/AACAGC 3 -- ut31 ese32Minor allele frequency- A:0.00NA 4
    rs1825577151,2
    --62855530(+) AAGTGC/TGGGTT 3 -- ut310--------
    rs1884027201,2
    --62855700(+) AAGGAA/GGAGTG 3 -- ut310--------
    rs1436152891,2
    C,--62855983(+) TCCCAG/TGCTGG 3 -- ut310--------
    rs1462930051,2
    --62856111(+) TCCCAC/TGGGGT 3 -- ut310--------
    rs38107001,2
    C,F,H,--62856174(+) CAGCAG/AAGTTC 3 -- ut31 ese37Minor allele frequency- A:0.01NS EA NA 682

    HapMap Linkage Disequilibrium report for ARHGEF9 (62854847 - 63005426 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ARHGEF9: --
    Human Gene Mutation Database (HGMD): ARHGEF9

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ARHGEF9 for disorders           About GeneDecksing

    OMIM gene information: 300429   
    OMIM disorders: 300607  
    UniProtKB/Swiss-Prot: ARHG9_HUMAN, O43307
  • Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 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

    9 diseases for ARHGEF9:    About MalaCards
    epileptic encephalopathy, early infantile, 8    startle disease    hyperekplexia    intellectual disability
    spasticity    neuronitis    breast cancer    adenocarcinoma
    pancreatitis

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

    1 Novoseek 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
    Hyperekplexia

    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 33):
    (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. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    5. 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)
    6. Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin. (PubMed id 10607391)1, 9 Kins S....Kirsch J. (2000)
    7. 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)
    8. Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (2012)
    9. Gs and Gq signalings regulate hPEM-2-induced cell res ponses in Neuro-2a cells. (PubMed id 22033413)1 Nagae R....Ueda H. (2011)
    10. Loss-of-function mutation of collybistin is responsib le for X-linked mental retardation associated with epilepsy. (PubMed id 21633362)1 Shimojima K....Yamamoto T. (2011)

    (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



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