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ARHGAP26 Gene

protein-coding   GIFtS: 65
GCID: GC05P142130

Rho GTPase Activating Protein 26

  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
Rho GTPase Activating Protein 261 2     OPHN1L12
GRAF2 3 5     GTPase Regulator Associated With Focal Adhesion Kinase Pp125(FAK)2
Oligophrenin-1-Like Protein2 3     Rho GTPase-Activating Protein 262
OPHN1L2 3     KIAA06213
GTPase Regulator Associated With The Focal Adhesion Kinase Pp1251     GTPase Regulator Associated With Focal Adhesion Kinase3
GRAF12     Rho-Type GTPase-Activating Protein 263

External Ids:    HGNC: 170731   Entrez Gene: 230922   Ensembl: ENSG000001458197   OMIM: 6053705   UniProtKB: Q9UNA13   

Export aliases for ARHGAP26 gene to outside databases

Previous GC identifers: GC05P142179 GC05P137297


(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 ARHGAP26 Gene:
Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling
cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades
is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal
adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a
cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for ARHGAP26 Gene:
ARHGAP26 (Rho GTPase activating protein 26) is a protein-coding gene. Diseases associated with ARHGAP26 include juvenile myelomonocytic leukemia, and alpha-thalassemia/mental retardation syndrome. GO annotations related to this gene include Rho GTPase activator activity and phospholipid binding. An important paralog of this gene is ARHGAP21.

UniProtKB/Swiss-Prot: RHG26_HUMAN, Q9UNA1
Function: GTPase-activating protein for RHOA and CDC42

Gene Wiki entry for ARHGAP26 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_000005.10  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGAP26 gene promoter:
         TBP   AhR   MEF-2   Lmo2   POU6F1 (c2)   GATA-1   Arnt   Gfi-1   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGAP26 promoter sequence
   Search Chromatin IP Primers for ARHGAP26

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGAP26


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31

ARHGAP26 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP26 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P142130:  view genomic region     (about GC identifiers)

Start:
142,149,949 bp from pter      End:
142,608,576 bp from pter
Size:
458,628 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RHG26_HUMAN, Q9UNA1 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 26  
Size: 814 amino acids; 92235 Da
Subunit: Interacts with NYAP1, NYAP2 and MYO16 (By similarity). Binds to the C-terminus of PTK2/FAK1
1 PDB 3D structure from and Proteopedia for ARHGAP26:
1UGV (3D)    
Secondary accessions: O75117 Q5D035 Q9BYS6 Q9BYS7 Q9UJ00
Alternative splicing: 2 isoforms:  Q9UNA1-1   Q9UNA1-2   

Explore the universe of human proteins at neXtProt for ARHGAP26: NX_Q9UNA1

Explore proteomics data for ARHGAP26 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys454
  • Modification sites at PhosphoSitePlus

  • See ARHGAP26 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129080.1  NP_055886.1  

    ENSEMBL proteins: 
     ENSP00000274498   ENSP00000367243   ENSP00000367252   ENSP00000411571   ENSP00000393276  
     ENSP00000416889   ENSP00000392186   ENSP00000413283   ENSP00000400565   ENSP00000389137  
     ENSP00000403388  
    Reactome Protein details: Q9UNA1

    ARHGAP26 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

    Selected InterPro protein domains (see all 6):
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom
     IPR013606 IRSp53/MIM_homology_IMD

    Graphical View of Domain Structure for InterPro Entry Q9UNA1

    ProtoNet protein and cluster: Q9UNA1

    3 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: RHG26_HUMAN, Q9UNA1
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 1 SH3 domain


    ARHGAP26 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: RHG26_HUMAN, Q9UNA1
    Function: GTPase-activating protein for RHOA and CDC42

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005100Rho GTPase activator activity NAS10908648
    GO:0005515protein binding IPI11432776
    GO:0005543phospholipid binding IDA18954304
    GO:0008093cytoskeletal adaptor activity IEA--
    GO:0017124SH3 domain binding IEA--
         
    ARHGAP26 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ARHGAP26:
     Decreased focal adhesion (FA)   Decreased viability with TRAIL  Gemcitabine induced cell-death  Weaker migration 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ARHGAP26:
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    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP26 (see all 136):
    hsa-miR-194* hsa-miR-26a-2* hsa-miR-520f hsa-miR-3938 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-409-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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
    RHG26_HUMAN, Q9UNA1: Cell junction, focal adhesion (By similarity). Cytoplasm, cytoskeleton (By similarity).
    Note=Colocalizes with actin stress fibers and cortical actin structures (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005925focal adhesion IEA--

    ARHGAP26 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 ARHGAP26 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
    3Signaling events mediated by focal adhesion kinase
    Signaling events mediated by focal adhesion kinase
    4Neuroscience
    Neuroscience
    5G protein signaling RhoA regulation pathway
    G protein signaling RhoA regulation pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ARHGAP26
        FAK1 Signaling

    1 Cell Signaling Technology (CST) Pathway for ARHGAP26
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for ARHGAP26
        G-protein signaling RhoA regulation pathway

    1 BioSystems Pathway for ARHGAP26
        Signaling events mediated by focal adhesion kinase

    1 Reactome Pathway for ARHGAP26
        Rho GTPase cycle



    ARHGAP26 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGAP26
    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP26

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

    Selected Interacting proteins for ARHGAP26 (Q9UNA11, 2, 3 ENSP000002744984) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKN3Q6P5Z21, 3, ENSP000002919064EBI-1390913,EBI-1384335 I2D: score=3 STRING: ENSP00000291906
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    RHOAP615863, ENSP000004001754I2D: score=1 STRING: ENSP00000400175
    INSRP062133, ENSP000003038304I2D: score=1 STRING: ENSP00000303830
    CDC42P609533, ENSP000003144584I2D: score=1 STRING: ENSP00000314458
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007399nervous system development NAS9582072
    GO:0030036actin cytoskeleton organization NAS11998687
    GO:0032321positive regulation of Rho GTPase activity NAS10908648

    ARHGAP26 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 ARHGAP26 (RHG26)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARHGAP26 gene (2 alternative transcripts): 
    NM_001135608.1  NM_015071.4  

    Unigene Cluster for ARHGAP26:

    Rho GTPase activating protein 26
    Hs.654668  [show with all ESTs]
    Unigene Representative Sequence: NM_015071
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000274498 ENST00000378004(uc011dbj.2 uc003lmt.3 uc003lmw.3)
    ENST00000378013 ENST00000475287 ENST00000477867 ENST00000451259 ENST00000461314
    ENST00000469131 ENST00000469396 ENST00000464838 ENST00000470032 ENST00000443674
    ENST00000418236 ENST00000443045 ENST00000419676 ENST00000424007 ENST00000489924
    ENST00000486650
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP26 (see all 136):
    hsa-miR-194* hsa-miR-26a-2* hsa-miR-520f hsa-miR-3938 hsa-miR-106a hsa-miR-605 hsa-miR-138-2* hsa-miR-409-5p
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    Additional mRNA sequence: 

    AB014521.1 AK092488.1 AK095220.1 AK123519.1 AK124521.1 AK298708.1 BC021059.2 BC068555.1 
    EF212277.1 EF212278.1 HM037040.1 

    20 DOTS entries:

    DT.104754  DT.455437  DT.100764412  DT.100665202  DT.100750024  DT.95313595  DT.120804595  DT.95153992 
    DT.40312858  DT.91922143  DT.204298  DT.434059  DT.92012339  DT.95168500  DT.100664198  DT.100750023 
    DT.92041598  DT.95346706  DT.40273232  DT.70103744 

    Selected AceView cDNA sequences (see all 264):

    BX496040 BC068555 AA705467 BX360448 AI248411 AA135948 BF933322 BM981023 
    BM680705 CB851536 BF085236 AA430588 BQ710410 CF456114 AW083421 BE328126 
    AA321968 BE276273 AW083886 BQ011885 AW183294 AK095220 BU629903 AL603170 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP26    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ·
    SP1:                                                                    -     -           -     -                                                               
    SP2:                                                                          -                 -                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 23c ^ 24
    SP1:  -         
    SP2:            
    SP3:            
    SP4:            


    ECgene alternative splicing isoforms for ARHGAP26

    (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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    ARHGAP26 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTGGTTT
    ARHGAP26 Expression
    About this image


    ARHGAP26 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
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Telencephalon
    ARHGAP26 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP26 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654668
        Custom PCR Arrays for ARHGAP26
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP26

    (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 ARHGAP26 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap261 , 5 Rho GTPase activating protein 261, 5 90.95(n)1
    96.93(a)1
      18 (20.51 cM)5
    713021  NM_175164.41  NP_780373.31 
     386015345 
    chicken
    (Gallus gallus)
    Aves ARHGAP261 Rho GTPase activating protein 26 81.14(n)
    90.93(a)
      396113  NM_205194.2  NP_990525.2 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP266
    Rho GTPase activating protein 26
    91(a)
    1 ↔ 1
    2(126369587-126662085)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX775324.12   -- 73.95(n)    BX775324.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgap42a6
    Rho GTPase activating protein 42a
    48(a)
    many ↔ many
    21(21853927-21911046) ENSDARG00000056619
    fruit fly
    (Drosophila melanogaster)
    Insecta Graf1 Graf 52.74(n)
    47.16(a)
      32522  NM_206718.1  NP_996441.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T04C9.11 T04C9.1 53.57(n)
    47.07(a)
      175849  NM_171143.7  NP_741163.2 


    ENSEMBL Gene Tree for ARHGAP26 (if available)
    TreeFam Gene Tree for ARHGAP26 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGAP26 gene
    ARHGAP212  ARHGAP272  ARHGAP102  CHN22  ARHGAP232  ARHGAP92  CHN12  ARHGAP152  
    ARHGAP122  OPHN12  ARHGAP422  
    13 SIMAP similar genes for ARHGAP26 using alignment to 11 protein entries:     RHG26_HUMAN (see all proteins):
    GRAF    OPHN1    CHN2    SH3GL2    ARHGAP42    CHN1
    ARHGAP12    ARHGAP10    ARHGEF7    ARHGAP21    DKFZp667D142    SH3GL1
    ARHGAP9

    ARHGAP26 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ARHGAP26
    PGOHUM00000242637


    (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 ARHGAP26 (see all 9357)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0136234
    Leukemia, juvenile myelomonocytic (JMML)4--see VAR_0136232 N S mis40--------
    rs1219185461,2
    Cother1142697421(+) TGTCAA/GCTCCA 4 N S mis10--------
    rs359506621,2
    C--137392567(+) TTTTT-/TTT/  
     TTTTTTT
    GAATC
    2 -- int11NA 2
    rs2005557831,2
    C--137416990(+) ACCCCA/CATCTC 2 -- int10--------
    rs2003600961,2
    C--137425213(+) ACACAC/TATATA 2 -- int10--------
    rs359219901,2
    C--137444078(+) TTTTT-/T/TT  
            
    AGATG
    2 -- int11NA 2
    rs795667461,2
    C--137449463(+) TGTGTC/G/TTTTTC 2 -- int11CSA 2
    rs38392081,2
    C--137450109(-) AAAAA-/A/AA  
            
    CTCCA
    2 -- int10--------
    rs113892841,2
    C--137450879(+) GATCC-/TTTTTT 2 -- int1 trp30--------
    rs7121701,2
    C,F,A,H--137457613(-) TGGGGG/TTGTAT 2 -- int18Minor allele frequency- T:0.35NA WA CSA EA 368

    HapMap Linkage Disequilibrium report for ARHGAP26 (142149949 - 142399949 bp, first 250kb of ARHGAP26)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ARHGAP26:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673894CNV Deletion23128226
    esv273367CNV Insertion20981092
    esv270471CNV Insertion20981092
    nsv507298CNV Insertion20534489
    nsv5040CNV Insertion18451855
    nsv522807CNV Loss19592680
    esv25431CNV Loss19812545
    nsv830510CNV Gain17160897
    nsv830511CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGAP26
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGAP26

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605370   
    OMIM disorders: 607785  
    UniProtKB/Swiss-Prot: RHG26_HUMAN, Q9UNA1
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic
    syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell
    compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes,
    rashes, and hemorrhages. Note=The gene represented in this entry is involved in disease pathogenesis. A
    chromosomal translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in leukemic cells from JMML patients,
    also carrying inactivating mutations on the second allele (PubMed:10908648)

  • 15 diseases for ARHGAP26:    
    About MalaCards
    juvenile myelomonocytic leukemia    alpha-thalassemia/mental retardation syndrome    alpha thalassemia    spondylolisthesis
    thalassemia    cerebellar ataxia    leukemia    myelodysplastic syndromes
    mental retardation    ataxia    acute myeloid leukemia    myeloid leukemia
    cervicitis    multiple myeloma    myeloma


    ARHGAP26 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGAP26
    Human Genome Epidemiology (HuGE) Navigator: ARHGAP26 (1 document)

    Export disorders for ARHGAP26 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 ARHGAP26 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with ARHGAP26)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. (PubMed id 10908648)1, 2, 9 Borkhardt A.... Lampert F. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish. (PubMed id 18759275)1, 4 McArdle P.F....Shuldiner A.R. (Arthritis Rheum. 2008)
    4. Cytoskeletal changes induced by GRAF, the GTPase regulator associated with focal adhesion kinase, are mediated by Rho. (PubMed id 9858476)1, 3 Taylor J.M....Parsons J.T. (J. Cell. Sci. 1999)
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1998)
    6. An SH3 domain-containing GTPase-activating protein for Rho and Cdc42 associates with focal adhesion kinase. (PubMed id 8649427)1, 3 Hildebrand J.D....Parsons J.T. (Mol. Cell. Biol. 1996)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. ADAR1 regulates ARHGAP26 gene expression through RNA editing by disrupting miR-30b-3p and miR-573 binding. (PubMed id 24067935)1 Wang Q....Wang L. (RNA 2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. The endocytic protein GRAF1 is directed to cell-matrix adhesion sites and regulates cell spreading. (PubMed id 21965292)1 Doherty G.J....Lundmark R. (Mol. Biol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 23092 HGNC: 17073 AceView: ARHGAP26 Ensembl:ENSG00000145819 euGenes: HUgn23092
    ECgene: ARHGAP26 H-InvDB: ARHGAP26

    (According to HUGE)
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    HUGE: KIAA0621

    (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 ARHGAP26 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGAP26 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Graf1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARHGAP26 gene:
    Search GeneIP for patents involving ARHGAP26

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



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