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ARHGAP6 Gene

protein-coding   GIFtS: 62
GCID: GC0XM011155

Rho GTPase Activating Protein 6

  See ARHGAP6-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rho GTPase Activating Protein 61 2
Rho-Type GTPase-Activating Protein 62 3
RHOGAP62 3
Rho-Type GTPase-Activating Protein RhoGAPX-12 3
RHOGAPX-12
Rho GTPase-Activating Protein 62

External Ids:    HGNC: 6761   Entrez Gene: 3952   Ensembl: ENSG000000476487   OMIM: 3001185   UniProtKB: O431823   

Export aliases for ARHGAP6 gene to outside databases

Previous GC identifers: GC0XM010134 GC0XM009921 GC0XM010452 GC0XM010517 GC0XM010915 GC0XM011065 GC0XM008936


(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 ARHGAP6 Gene:
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin
polymerization at the plasma membrane during several cellular processes. This protein is thought to have two
independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a
cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGAP6 Gene:
ARHGAP6 (Rho GTPase activating protein 6) is a protein-coding gene. Diseases associated with ARHGAP6 include microphthalmia with linear skin defects syndrome. GO annotations related to this gene include Rho GTPase activator activity and SH3 domain binding. An important paralog of this gene is ARHGAP36.

UniProtKB/Swiss-Prot: RHG06_HUMAN, O43182
Function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could
regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of
cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell
morphology




(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_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGAP6 gene promoter:
         TBP   CREB   HSF2   TFIID   deltaCREB   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGAP6 promoter sequence
   Search Chromatin IP Primers for ARHGAP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGAP6


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

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.3

ARHGAP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM011155:  view genomic region     (about GC identifiers)

Start:
11,136,239 bp from pter      End:
11,683,821 bp from pter
Size:
547,583 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RHG06_HUMAN, O43182 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 6  
Size: 974 amino acids; 105947 Da
Miscellaneous: ARHGAP6 gene undergoes X inactivation
Secondary accessions: B2RWQ0 O43437 Q9P1B3 Q9UK81 Q9UK82
Alternative splicing: 5 isoforms:  O43182-1   O43182-2   O43182-3   O43182-4   O43182-5   

Explore the universe of human proteins at neXtProt for ARHGAP6: NX_O43182

Explore proteomics data for ARHGAP6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGAP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001274171.1  NP_006116.2  NP_038267.1  NP_038286.2  

    ENSEMBL proteins: 
     ENSP00000370112   ENSP00000302312   ENSP00000338967   ENSP00000435767   ENSP00000370093  
     ENSP00000370094   ENSP00000438135   ENSP00000370108   ENSP00000389394  
    Reactome Protein details: O43182

    ARHGAP6 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:
    ARHGAP: Rho GTPase activating proteins

    2 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry O43182

    ProtoNet protein and cluster: O43182

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: RHG06_HUMAN, O43182
    Similarity: Contains 1 Rho-GAP domain


    Find genes that share domains with ARHGAP6           About GenesLikeMe


    (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, 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: RHG06_HUMAN, O43182
    Function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could
    regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of
    cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell
    morphology

         Genatlas biochemistry entry for ARHGAP6:
    Rho GTPase activating protein 6,aplysia related,involved in signal transduction

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS8570618
    GO:0005100Rho GTPase activator activity ISS10699171
    GO:0016004phospholipase activator activity IDA18434237
    GO:0017124SH3 domain binding IEA--
    GO:0043274phospholipase binding IPI18434237
         
    Find genes that share ontologies with ARHGAP6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ARHGAP6:
     Synthetic lethal with c-Myc af 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgap6):
     embryogenesis  growth/size/body  mortality/aging  normal 

    Find genes that share phenotypes with ARHGAP6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Arhgap6tm1Hzo for ARHGAP6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGAP6
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    hsa-miR-656 hsa-miR-135b hsa-miR-369-3p hsa-miR-1271 hsa-miR-145 hsa-miR-96 hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ARHGAP6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP6

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    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGAP6 (NM_006125)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP6


    (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
    RHG06_HUMAN, O43182: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    mitochondrion2
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IMP10699171
    GO:0005829cytosol TAS--
    GO:0005884actin filament NAS10699171
    GO:0015629actin cytoskeleton ISS10699171

    Find genes that share ontologies with ARHGAP6           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 ARHGAP6 About    
    See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    2Signaling by GPCR
    Signal Transduction0.58
    3Regulation of RhoA activity
    Regulation of RhoA activity


    Find genes that share SuperPaths with ARHGAP6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ARHGAP6
        Regulation of RhoA activity

    1 Reactome Pathway for ARHGAP6
        Rho GTPase cycle


        Pathway & Disease-focused RT2 Profiler PCR Array including ARHGAP6: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP6

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

    Selected Interacting proteins for ARHGAP6 (ENSP000003389674) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMOTENSP000003610274STRING: ENSP00000361027
    ACTA1ENSP000003556454STRING: ENSP00000355645
    ACTC1ENSP000002903784STRING: ENSP00000290378
    CD2APENSP000003522644STRING: ENSP00000352264
    CORO1AENSP000002191504STRING: ENSP00000219150
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization ----
    GO:0007165signal transduction ----
    GO:0007202activation of phospholipase C activity IDA18434237
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007266Rho protein signal transduction NAS10699171

    Find genes that share ontologies with ARHGAP6           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARHGAP6 (RHG06)



    (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 ARHGAP6 gene (6 alternative transcripts): 
    NM_001287242.1  NM_006125.2  NM_013423.2  NM_013427.2  NM_001174.3  NM_013422.2  

    Unigene Cluster for ARHGAP6:

    Rho GTPase activating protein 6
    Hs.435291  [show with all ESTs]
    Unigene Representative Sequence: AB208792
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380736(uc004cun.1) ENST00000303025(uc004cum.1) ENST00000337414(uc004cup.1)
    ENST00000495242(uc004cuo.1) ENST00000489330 ENST00000380717(uc010neb.1)
    ENST00000380718(uc004cur.1) ENST00000491514 ENST00000534860 ENST00000380732
    ENST00000413512(uc011mif.1)
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate ARHGAP6:
    hsa-miR-656 hsa-miR-135b hsa-miR-369-3p hsa-miR-1271 hsa-miR-145 hsa-miR-96 hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ARHGAP6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP6
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ARHGAP6 (NM_006125)
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      QuantiFast Probe-based Assays in human, mouse, rat ARHGAP6

    Additional mRNA sequence: 

    AB208792.1 AF012272.2 AF022212.2 AF117067.1 AF177663.1 AF177665.1 AK293078.1 AK297713.1 
    AK297747.1 AK303444.1 BC035785.1 BC150635.1 

    10 DOTS entries:

    DT.91744947  DT.107093  DT.121305062  DT.95370974  DT.97799910  DT.102741  DT.91744951  DT.95370975 
    DT.91744952  DT.121305049 

    Selected AceView cDNA sequences (see all 59):

    NM_013422 AF177665 BG202905 AI633703 BQ930645 AI288251 AI377079 BG190139 
    BG214964 NM_006125 BC035785 BG181711 AI363789 NM_013423 BG193164 CB045087 
    AI433854 AA495981 CF140353 BG211238 BM543771 BG207569 AF177663 BE645442 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP6 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
    SP1:              -                                                     -                       -               
    SP2:        -     -                                                     -           -           -               
    SP3:                                                                    -           -           -               
    SP4:        -     -                                                     -           -                           
    SP5:              -                                                     -           -                           


    ECgene alternative splicing isoforms for ARHGAP6

    (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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    ARHGAP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAATAAAA
    ARHGAP6 Expression
    About this image


    ARHGAP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Megakaryocytes Hematopoietic Bone Marrow
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
    ARHGAP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435291

    UniProtKB/Swiss-Prot: RHG06_HUMAN, O43182
    Tissue specificity: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast,
    placenta, lung, brain, pancreas and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including ARHGAP6: 
              Cytoskeleton Regulators in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARHGAP6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap61 , 5 Rho GTPase activating protein 61, 5 84.88(n)1
    85.39(a)1
      X (78.77 cM)5
    118561  NM_009707.31  NP_033837.21 
     1687950995 
    chicken
    (Gallus gallus)
    Aves ARHGAP61 Rho GTPase activating protein 6 71.51(n)
    72.54(a)
      418642  XM_416840.4  XP_416840.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP66
    Rho GTPase activating protein 6
    83(a)
    1 ↔ 1
    3(119453243-119495627)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.145752 Transcribed sequence with moderate similarity to protein more 80.83(n)    BX701330.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018823601 rho GTPase-activating protein 6-like 59.84(n)
    59.96(a)
      101882360  XM_005174683.1  XP_005174740.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP102A3 Rho GTPase activator 47(a)   102B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea rga-66
    Protein RGA-6, isoform a (rga-6) mRNA, complete cd...
    20(a)
    1 → many
    I(4850682-4867825) WBGene00015303
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAC7(YDR389W)4 GTPase activating protein (GAP) for Rho1p, involved more   --   4(1252537-1254501) 851997  NP_010677.1 


    ENSEMBL Gene Tree for ARHGAP6 (if available)
    TreeFam Gene Tree for ARHGAP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGAP6 gene
    ARHGAP362  STARD132  ARHGAP402  ARHGAP182  DLC12  ARHGAP11A2  ARHGAP282  ARHGAP11B2  
    STARD82  
    4 SIMAP similar genes for ARHGAP6 using alignment to 4 protein entries:     RHG06_HUMAN (see all proteins):
    ARHGAP21    ARHGAP12    ARHGAP36    FAM13A

    Find genes that share paralogs with ARHGAP6           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 ARHGAP6 (see all 6757)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872052551,2
    --11069746(+) GTGTAC/GCTTAA 2 -- ds50010--------
    rs414715491,2
    C,F,H--11069747(-) GTTAAG/ACTACA 2 -- ds500119Minor allele frequency- A:0.04NS EA NA 2306
    rs59338621,2
    C,F,H--11070140(+) TTTCAT/ACACCA 2 -- ut3116Minor allele frequency- A:0.17NS EA NA WA CSA 1969
    rs156151,2
    F--11070173(+) GTTTTA/TTAAAA 2 -- ut311Minor allele frequency- T:0.04MN 184
    rs32074281,2
    F--11070259(-) GCAGAT/AGGCGA 2 -- ut31 ese31Minor allele frequency- A:0.02MN 184
    rs1905767871,2
    --11070263(+) CATCTG/TCTGGT 2 -- ut310--------
    rs22856651,2
    C,H--11070297(+) AACTTC/TAAACT 2 -- ut31 ese35Minor allele frequency- T:0.00NS EA NA 420
    rs413031751,2
    C--11070704(+) TTCTAA/GAAATA 2 -- ut310--------
    rs1831094891,2
    --11070716(+) ATTTCA/GTAATC 2 -- ut310--------
    rs557002131,2
    --11070854(+) GTATCA/GAAGGA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ARHGAP6 (11136239 - 11386239 bp, first 250kb of ARHGAP6)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ARHGAP6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739963CNV Deletion23290073
    esv270995CNV Insertion20981092
    esv271693CNV Insertion20981092
    nsv6797CNV Loss18451855
    nsv515163CNV Loss21397061

    Human Gene Mutation Database (HGMD): ARHGAP6
    Locus Specific Mutation Databases (LSDB): ARHGAP6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGAP6
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGAP6

    (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: 300118    OMIM disorders: --

    1 disease for ARHGAP6:    
    About MalaCards
    microphthalmia with linear skin defects syndrome

    2 diseases from the University of Copenhagen DISEASES database for ARHGAP6:
    Microphthalmia     Amelogenesis imperfecta

    Find genes that share disorders with ARHGAP6           About GenesLikeMe

    1 Novoseek inferred disease relationship for ARHGAP6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 80.2 1 9417914 (1)

    Genetic Association Database (GAD): ARHGAP6
    Human Genome Epidemiology (HuGE) Navigator: ARHGAP6 (3 documents)

    Export disorders for ARHGAP6 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 ARHGAP6 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with ARHGAP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. (PubMed id 9417914)1, 2, 3, 9 Schaefer L.... Zoghbi H.Y. (Genomics 1997)
    2. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. (PubMed id 10699171)1, 2, 9 Prakash S.K.... Zoghbi H.Y. (Hum. Mol. Genet. 2000)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension. (PubMed id 18434237)1, 9 Ochocka A.M....Pawelczyk T. (amp 2008)
    5. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (J. Proteome Res. 2012)
    6. Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (PubMed id 23251683)1 Hu J.C....Simmer J.P. (PLoS ONE 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Identification of Rho GTPase activating protein 6 isoform 1 variant as a new molecular marker in human colorectal tumors. (PubMed id 19960375)1 Guo F....Li G. (Pathol. Oncol. Res. 2010)
    9. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    10. Phosphoproteome of resting human platelets. (PubMed id 18088087)2 Zahedi R.P.... Sickmann A. (J. Proteome Res. 2008)

    (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: 395 HGNC: 676 AceView: ARHGAP6 Ensembl:ENSG00000047648 euGenes: HUgn395
    ECgene: ARHGAP6 H-InvDB: ARHGAP6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARHGAP6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGAP6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARHGAP6 gene:
    Search GeneIP for patents involving ARHGAP6

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



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