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ARHGEF9 Gene

protein-coding   GIFtS: 60
GCID: GC0XM062771

Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9

  See ARHGEF9-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for ARHGEF9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGEF9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    antibodies-online proteins for ARHGEF9 (5 products) 

     
    antibodies-online peptides for ARHGEF9

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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:
    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


    Find genes that share domains with ARHGEF9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ARHGEF9           About GenesLikeMe


    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 

    Find genes that share phenotypes with ARHGEF9           About GenesLikeMe

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

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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
    ARHG9_HUMAN, O43307: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with ARHGEF9           About GenesLikeMe


    (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 ARHGEF9 About   (see all 24)  
    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
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    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


    Find genes that share SuperPaths with ARHGEF9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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 Reactome Pathways for ARHGEF9
        GABA A receptor activation
    Ligand-gated ion channel transport
    G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


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    Interactions:

        GeneGlobe Interaction Network for ARHGEF9

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

    Selected Interacting proteins for ARHGEF9 (O433073 ENSP000002534014) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    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
    ARHGAP32ENSP000003105614STRING: ENSP00000310561
    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:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0043065positive regulation of apoptotic process TAS--

    Find genes that share ontologies with ARHGEF9           About GenesLikeMe



    (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 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--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    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 

    Selected AceView cDNA sequences (see all 179):

    BC018106 AI435829 AL119565 BC046138 AI089803 CA439713 CD673141 T32986 
    AA765435 AA835409 BM548388 AA147072 T33542 BX493460 AW137734 BC056892 
    AA398168 AA205325 BX329681 CA433652 AI609268 AI291104 F10514 Z38704 

    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™, 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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    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

    ARHGEF9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGEF9 Protein Expression

    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ARHGEF9 gene from Selected species (see all 13)    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 93.02(n)1
    98.45(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 84.15(n)
    94.15(a)
      422315  XM_004940782.1  XP_004940839.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    85(a)
    81(a)
    1 ↔ many
    1 ↔ many
    GL344133.1(2701-78545)
    GL343735.1(2400-16460)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arhgef91 Cdc42 guanine nucleotide exchange factor (GEF) 9 80.86(n)
    95.14(a)
      100125033  NM_001102956.2  NP_001096426.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef9b1 Cdc42 guanine nucleotide exchange factor (GEF) 9b 76.11(n)
    85.54(a)
      560923  NM_001161663.1  NP_001155135.1 


    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)
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    Paralogs for ARHGEF9 gene
    ARHGEF62  PLEKHG22  PLEKHG32  PREX22  ENSG000002731672  ARHGEF72  TIAM12  SPATA132  
    TIAM22  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

    Find genes that share paralogs with ARHGEF9           About GenesLikeMe



    (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 ARHGEF9 (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--------
    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--------
    rs1436152891,2
    C--62862941(+) TCCCAG/TGCTGG 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 3 diseases for ARHGEF9:    
    About MalaCards
    epileptic encephalopathy, early infantile, 8    arhgef9-related hyperekplexia    hyperekplexia

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

    Find genes that share disorders with ARHGEF9           About GenesLikeMe

    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)
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    PubMed articles for ARHGEF9 gene, integrated from 10 sources (see all 35):
    (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. (J. Biol. Chem. 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. (DNA Res. 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. (J. Neurosci. 2004)
    4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 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. (Genome Res. 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. (Hum. Mutat. 2009)
    8. Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin. (PubMed id 10607391)1, 9 Kins S....Kirsch J. (Nat. Neurosci. 2000)
    9. Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission. (PubMed id 24297911)1 Mayer S....Papadopoulos T. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    10. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23229 HGNC: 14561 AceView: ARHGEF9 Ensembl:ENSG00000131089 euGenes: HUgn23229
    ECgene: ARHGEF9 H-InvDB: ARHGEF9

    (According to HUGE)
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    HUGE: KIAA0424

    (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 ARHGEF9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARHGEF9[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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