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ARHGEF6 Gene

protein-coding   GIFtS: 64
GCID: GC0XM135747

Rac/Cdc42 Guanine Nucleotide Exchange Factor (GEF) 6

(Previous names: mental retardation, X-linked 46)
(Previous symbol: MRX46)
  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
Rac/Cdc42 Guanine Nucleotide Exchange Factor (GEF) 61 2     Mental Retardation, X-Linked 461
MRX461 2 5     PAK-Interacting Exchange Factor1
COOL22 3 5     Cool-22
Rac/Cdc42 Guanine Exchange Factor (GEF) 61 2     alpha-PIX2
Rho Guanine Nucleotide Exchange Factor 61 2     alphaPIX2
Rac/Cdc42 Guanine Nucleotide Exchange Factor 62 3     PAK-Interacting Exchange Factor, Alpha2
PIXA2 3     Alpha-Pix3
PAK-Interacting Exchange Factor Alpha2 3     COOL-23
alpha1     KIAA00063

External Ids:    HGNC: 6851   Entrez Gene: 94592   Ensembl: ENSG000001296757   OMIM: 3002675   UniProtKB: Q150523   

Export aliases for ARHGEF6 gene to outside databases

Previous GC identifers: GC0XM130319 GC0XM132593 GC0XM133692 GC0XM134453 GC0XM135473 GC0XM135575 GC0XM125018


(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 ARHGEF6 Gene:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli
that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins
that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G
proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can
cause X-chromosomal non-specific mental retardation. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGEF6 Gene:
ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6) is a protein-coding gene. Diseases associated with ARHGEF6 include non-specific x-linked mental retardation, and borjeson-forssman-lehmann syndrome. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG2.

UniProtKB/Swiss-Prot: ARHG6_HUMAN, Q15052
Function: Acts as a RAC1 guanine nucleotide exchange factor (GEF)

Gene Wiki entry for ARHGEF6 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_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGEF6 gene promoter:
         HOXA9B   HOXA9   HFH-3   Nkx2-5   POU3F2   Meis-1b   C/EBPalpha   CHOP-10   FOXI1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ARHGEF6 promoter sequence
   Search Chromatin IP Primers for ARHGEF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGEF6


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

Entrez Gene cytogenetic band: Xq26.3   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26

ARHGEF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM135747:  view genomic region     (about GC identifiers)

Start:
135,747,706 bp from pter      End:
135,864,247 bp from pter
Size:
116,542 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: ARHG6_HUMAN, Q15052 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 6  
Size: 776 amino acids; 87499 Da
Subunit: Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic
complexes, which also contain PXN, GIT1 and PAK1 (By similarity). Interacts with PARVB. Interacts with BIN2.
Identified in a complex with BIN2 and GIT2
Sequence caution: Sequence=BAA02796.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for ARHGEF6:
1UJY (3D)        1WYR (3D)    
Secondary accessions: A6NMW9 A8K6S7 B1AL37 Q15396 Q5JQ66 Q7Z3W1 Q86XH0
Alternative splicing: 2 isoforms:  Q15052-1   Q15052-2   

Explore the universe of human proteins at neXtProt for ARHGEF6: NX_Q15052

Explore proteomics data for ARHGEF6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys648, Lys682, Lys712, Lys722, Lys736
  • Modification sites at PhosphoSitePlus

  • See ARHGEF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004831.1  
    ENSEMBL proteins: 
     ENSP00000359654   ENSP00000359656   ENSP00000250617   ENSP00000439483  
    Reactome Protein details: Q15052

    ARHGEF6 Human Recombinant Protein Products:

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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

    Selected InterPro protein domains (see all 6):
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry Q15052

    ProtoNet protein and cluster: Q15052

    4 Blocks protein domains:
    IPB000219 DH domain
    IPB001452 SH3 domain signature
    IPB001715 Calponin-like actin-binding
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHG6_HUMAN, Q15052
    Similarity: Contains 1 CH (calponin-homology) domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    ARHGEF6 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: ARHG6_HUMAN, Q15052
    Function: Acts as a RAC1 guanine nucleotide exchange factor (GEF)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity NAS11017088
    GO:0005096GTPase activator activity NAS9582122
    GO:0005515protein binding IPI11864573
         
    ARHGEF6 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgef6):
     behavior/neurological  hematopoietic system  immune system  nervous system 

    ARHGEF6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arhgef6tm1Kdf for ARHGEF6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGEF6
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    miRNA
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    miRTarBase miRNAs that target ARHGEF6:
    hsa-mir-30c-5p (MIRT007134), hsa-mir-877-5p (MIRT037230)

    Block miRNA regulation of human, mouse, rat ARHGEF6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARHGEF6 (see all 59):
    hsa-miR-142-5p hsa-miR-579 hsa-miR-3685 hsa-miR-548j hsa-miR-128 hsa-miR-488 hsa-miR-30d hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARHGEF6

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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
    ARHG6_HUMAN, Q15052: Cell projection, lamellipodium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC11017088
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0030027lamellipodium ISS--

    ARHGEF6 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 ARHGEF6 About   (see all 30)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    Paxillin Interactions0.73
    Breast Cancer Regulation by Stathmin10.58
    GPCR Pathway0.62
    3p75 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
    4Cell junction organization
    Cell junction organization0.70
    Regulation of cytoskeletal remodeling and cell spreading by IPP complex components0.00
    Cell-Cell communication0.64
    Cell-extracellular matrix interactions0.00
    5Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARHGEF6 (see all 28)
        RhoA Pathway
    G-Beta Gamma Signaling
    Paxillin Interactions
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for ARHGEF6
        Cytoskeletal Signaling
    Adhesion

    5 BioSystems Pathways for ARHGEF6
        Regulation of Actin Cytoskeleton
    CDC42 signaling events
    Regulation of CDC42 activity
    Class I PI3K signaling events
    Regulation of RAC1 activity

    4 Reactome Pathways for ARHGEF6
        G alpha (12/13) signalling events
    Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
    NRAGE signals death through JNK
    Rho GTPase cycle


    2 Kegg Pathways  (Kegg details for ARHGEF6):
        Regulation of actin cytoskeleton
    Pancreatic cancer


    ARHGEF6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGEF6
    Interactions:

        GeneGlobe Interaction Network for ARHGEF6

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

    Selected Interacting proteins for ARHGEF6 (Q150521, 2, 3 ENSP000002506174) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAK1Q131532, 3, ENSP000002785684MINT-8249058 I2D: score=6 STRING: ENSP00000278568
    GIT1Q9Y2X72, 3, ENSP000003783384MINT-8249036 I2D: score=3 STRING: ENSP00000378338
    ADAM15Q134442, 3, ENSP000003494364MINT-2792621 I2D: score=2 STRING: ENSP00000349436
    GPRASP2Q96D092, 3, ENSP000003390574MINT-8249047 I2D: score=2 STRING: ENSP00000339057
    SH3GL3Q999632, 3MINT-8249069 I2D: score=2 
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    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process NAS11564864
    GO:0007254JNK cascade NAS11564864
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0030032lamellipodium assembly ISS--
    GO:0032319regulation of Rho GTPase activity NAS11017088

    ARHGEF6 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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARHGEF6 (ARHG6)

    3 HMDB Compounds for ARHGEF6    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 ARHGEF6 gene: 
    NM_004840.2  

    Unigene Cluster for ARHGEF6:

    Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
    Hs.522795  [show with all ESTs]
    Unigene Representative Sequence: BC039856
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370620(uc011mwd.2 uc011mwe.2) ENST00000370622 ENST00000250617(uc004fab.3)
    ENST00000535227
    miRNA
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    hsa-miR-142-5p hsa-miR-579 hsa-miR-3685 hsa-miR-548j hsa-miR-128 hsa-miR-488 hsa-miR-30d hsa-miR-548l
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    Additional mRNA sequence: 

    AF207831.1 AK129909.1 AK291742.1 AK294929.1 AK295709.1 AK299861.1 BC033768.1 BC039856.1 
    BC043505.1 BX537390.1 D13631.1 D25304.1 

    8 DOTS entries:

    DT.215210  DT.97783578  DT.40116849  DT.121307766  DT.91719588  DT.91905818  DT.92065782  DT.99991627 

    Selected AceView cDNA sequences (see all 132):

    CA439464 BQ007784 AF207831 D25304 BC043505 BQ225982 BX537390 D13631 
    BQ226703 AA236617 AA985066 BX502950 NM_004840 BQ672606 N22185 CD109623 
    AA236965 BC039856 AK129909 BM664020 BM692427 BG258527 BM998736 AW515372 

    GeneLoc Exon Structure


    (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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    ARHGEF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATCTGAG
    ARHGEF6 Expression
    About this image


    ARHGEF6 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
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Gonad
             Spermatid Seminiferous Tubules
     
     Placenta (Extraembryonic Tissues)
    ARHGEF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGEF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522795

    UniProtKB/Swiss-Prot: ARHG6_HUMAN, Q15052
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for ARHGEF6
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    QuantiFast Probe-based Assays in human, mouse, rat ARHGEF6
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF6

    (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.

    Orthologs for ARHGEF6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef61 , 5 Rac/Cdc42 guanine nucleotide exchange factor (GEF) more1, 5 88.83(n)1
    91.82(a)1
      X (31.26 cM)5
    733411  NM_152801.21  NP_690014.21 
     572314855 
    chicken
    (Gallus gallus)
    Aves ARHGEF61 Rac/Cdc42 guanine nucleotide exchange factor (GEF) more 72.21(n)
    75.23(a)
      422247  NM_001006432.1  NP_001006432.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF66
    Rac/Cdc42 guanine nucleotide exchange factor (GEF)...
    70(a)
    1 ↔ 1
    GL343562.1(246798-320232)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arhgef61 Rac/Cdc42 guanine nucleotide exchange factor (GEF) more 70.27(n)
    70.44(a)
      100489192  XM_002932625.2  XP_002932671.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5582881 rho guanine nucleotide exchange factor 6-like 63.32(n)
    64.07(a)
      558288  XM_681489.5  XP_686581.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta rtGEF3 guanyl-nucleotide exchange factor 43(a)   38C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea K11E4.43 Src homology domain 3 26(a)   X(13759889-13768646)   --


    ENSEMBL Gene Tree for ARHGEF6 (if available)
    TreeFam Gene Tree for ARHGEF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGEF6 gene
    PLEKHG22  PLEKHG32  PREX22  ENSG000002731672  ARHGEF72  TIAM12  SPATA132  TIAM22  
    ARHGEF92  ARHGEF42  PLEKHG12  PREX12  
    6 SIMAP similar genes for ARHGEF6 using alignment to 2 protein entries:     ARHG6_HUMAN (see all proteins):
    RBP7    ARHGEF7    KIAA0142    ITSN1    SH3GL1    SH3GL2

    ARHGEF6 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 ARHGEF6 (see all 1416)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881996851,2
    --135705770(+) TGGAAC/TGAATA 1 -- ds50010--------
    rs1932652321,2
    --135706031(+) TTATCC/TCTGTA 1 -- ds50010--------
    rs2022085171,2
    C--135706039(+) TGTAA-/GTTGGG 1 -- ds50010--------
    rs113459641,2
    C--135706044(+) GTTGG-/GAGCAA 1 -- ds50010--------
    rs1855203551,2
    --135706178(+) TAGCAA/TAAAAA 1 -- ds50010--------
    rs1896444161,2
    --135706209(+) ATAAAA/GCACTG 1 -- ut310--------
    rs413125801,2
    C--135706332(+) TCTACA/GGGCAG 1 -- ut310--------
    rs10612741,2
    C--135706525(-) GGGGAC/TTTGGC 1 -- ut312Minor allele frequency- T:0.00MN NA 186
    rs1401393911,2
    --135706530(+) GTCCCC/TGAAAC 1 -- ut310--------
    rs1440274741,2
    C--135706596(+) ACTAAA/CGTATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ARHGEF6 (135747706 - 135864247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ARHGEF6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7109CNV Insertion18451855

    Human Gene Mutation Database (HGMD): ARHGEF6
    Locus Specific Mutation Databases (LSDB): ARHGEF6

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300267   
    OMIM disorders: 300436  
    UniProtKB/Swiss-Prot: ARHG6_HUMAN, Q15052
  • Mental retardation, X-linked 46 (MRX46) [MIM:300436]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for ARHGEF6:    
    About MalaCards
    non-specific x-linked mental retardation    borjeson-forssman-lehmann syndrome    mental retardation    mental retardation, x-linked
    mental retardation, x-linked 17/31, microduplication    intellectual disability    malignant glioma    spasticity
    pancreatic cancer    pancreatitis    multiple myeloma    adenocarcinoma
    myeloma    cerebritis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for ARHGEF6:
    Intellectual disability

    ARHGEF6 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ARHGEF6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 69.3 13 12499396 (2), 11017088 (2), 17317956 (1), 15649357 (1) (see all 7)

    Genetic Association Database (GAD): ARHGEF6
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF6 (1 document)

    Export disorders for ARHGEF6 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 ARHGEF6 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with ARHGEF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. (PubMed id 11017088)1, 2, 9 Kutsche K.... Gal A. (Nat. Genet. 2000)
    2. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    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. (Genome Res. 2004)
    6. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. (PubMed id 11337747)1, 2 Lower K.M. and Gecz J. (Am. J. Med. Genet. 2001)
    7. PAK kinases are directly coupled to the PIX family of nucleotide exchange factors. (PubMed id 9659915)1, 3 Manser E....Lim L. (Mol. Cell 1998)
    8. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1 (supplement). (PubMed id 7584048)1, 3 Nomura N....Tabata S. (DNA Res. 1994)
    9. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)
    10. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. (PubMed id 12499396)1, 9 Rosenberger G....Kutsche K. (Hum. Mol. Genet. 2003)

    (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: 9459 HGNC: 685 AceView: ARHGEF6 Ensembl:ENSG00000129675 euGenes: HUgn9459
    ECgene: ARHGEF6 Kegg: 9459 H-InvDB: ARHGEF6

    (According to HUGE)
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    HUGE: KIAA0006

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ARHGEF6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARHGEF6[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 ARHGEF6 gene:
    Search GeneIP for patents involving ARHGEF6

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



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