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ARHGAP26 (GTPase activating protein for Rho associated with FAK)

Written2000-11Stig Bojesen, Arndt Borkhardt
Dept. clinical biochemistry, Copenhagen Univeristy hospiatl, Rigshospitalet Blegdamsvej 9 DK-2100 Copenhagen, Denmark

(Note : for Links provided by Atlas : click)

Identity

Other namesGRAF
GRAF1
OPHN1L
OPHN1L1
HGNC (Hugo) ARHGAP26
LocusID (NCBI) 23092
Atlas_Id 291
Location 5q31.3
Location_base_pair Starts at 142150292 and ends at 142608572 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Just centromeric of GRL.
Fusion genes
(updated 2016)
ARHGAP26 (5q31.3) / ARHGAP26 (5q31.3)ARHGAP26 (5q31.3) / FGF1 (5q31.3)ARHGAP26 (5q31.3) / HSPA9 (5q31.2)
ARHGAP26 (5q31.3) / KMT2A (11q23.3)ARHGAP26 (5q31.3) / NRG1 (8p12)ARHGAP26 (5q31.3) / PLPP1 (5q11.2)
ARHGAP26 (5q31.3) / RNF130 (5q35.3)ARHGAP26 (5q31.3) / SMARCC2 (12q13.2)BPTF (17q24.2) / ARHGAP26 (5q31.3)
BTN3A2 (6p22.2) / ARHGAP26 (5q31.3)CLDN18 (3q22.3) / ARHGAP26 (5q31.3)COL1A1 (17q21.33) / ARHGAP26 (5q31.3)
KMT2A (11q23.3) / ARHGAP26 (5q31.3)MYL6 (12q13.2) / ARHGAP26 (5q31.3)NR3C1 (5q31.3) / ARHGAP26 (5q31.3)
NUP214 (9q34.13) / ARHGAP26 (5q31.3)SPOCK1 (5q31.2) / ARHGAP26 (5q31.3)TP53 (17p13.1) / ARHGAP26 (5q31.3)

DNA/RNA

Description At least 24 exons.
Transcription Two isoforms of 2277 bp (leukocytes) and 2442 bp (brain); transcripts of 4,4 and 9,5 kb.

Protein

 
Description Isoform A: 759 amino acids, 86 kDa; isoform B: 814 amino acids, 92 kDa.
Expression Highly expressed in epithelial tissues i.e. pancreas islet beta-cells, testicles, prostate, mammary gland, GI glands, squamous layer of skin epithelium; highly expressed in nervous tissues including enteric ganglia; expressed in cardiomyocytes, erythropoiesis cells and liver.
Localisation Mainly cytoplasmatic.
Function Interacts with FAK and RhoA both in vivo and in vitro; acts as GTPase activating protein (GAP) for the active GTP-bound RhoA; negative regulator of RhoA.
Homology Oligophrenin-1, Beta-chimerin, BCR.

Mutations

Germinal Not known
Somatic
  • Deletion of four bases (251-254, A in ATG=nt1)
  • Insert 1158
    GRAF-base 1144,
     5' 1 TA GAG ACA GGA TTT CAT CAT GTT GGC CAG GTT GGT TTT GAA
    42 TTC CTG ACC TCA AGT GAT CCA CCT GCC TCG GCC TCC CAA AGT
    84 GGT GGG ATT TTG G 3'
    ......GRAF-base 1145
  • Insert 1299
    GRAF-base 1285,
     5' 1 TC ATC GTT GTC ATA TAA ATC GGC GAG GTA ATA TTC CAT CAG 
    42 GTA GAC ATA CG 3'
    ...GRAF-base 1286.Predicted STOP codon underlined.
  • Insert 2002
    GRAF-base 1988
     5' 1 G GTT CAT GCG AGT TCA GCA AGC AGT TAC CAT GTC TAC GGC
    41 ATG CCA GGA TAC TGT TGG GAA GGT AGT ATT CCG T 3'
    ...GRAF-base 1989

  • Implicated in

    Note
    Entity t(5;11)(q31;q23) / acute non lymphocytic leukemia --> MLL - GRAF
    Prognosis Unknown; only a few cases
    Hybrid/Mutated Gene 5' MLL 3' GRAF
    Abnormal Protein MLL-GRAF
      
    Disease Acute non lymphocytic leukemia and myelodysplastic syndrome with del(5q)
    Prognosis Unknown
    Cytogenetics del(5q)
    Oncogenesis Basically unknown; a bi-allelic loss of GRAF has been documented in three cases of AML.
      

    Bibliography

    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.
    Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
    Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (16) : 9168-9173.
    PMID 10908648
     

    Citation

    This paper should be referenced as such :
    Bojesen, SE ; Borkhardt, A
    GRAF (GTPase activating protein for Rho associated with FAK)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):1-2.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/GRAFID291.html


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
      11q23 rearrangements (KMT2A) in leukaemia
    t(5;11)(q31;q23) KMT2A/ARHGAP26

    External links

    Nomenclature
    HGNC (Hugo)ARHGAP26   17073
    Cards
    AtlasGRAFID291
    Entrez_Gene (NCBI)ARHGAP26  23092  Rho GTPase activating protein 26
    GeneCards (Weizmann)ARHGAP26
    Ensembl hg19 (Hinxton)ENSG00000145819 [Gene_View]  chr5:142150292-142608572 [Contig_View]  ARHGAP26 [Vega]
    Ensembl hg38 (Hinxton)ENSG00000145819 [Gene_View]  chr5:142150292-142608572 [Contig_View]  ARHGAP26 [Vega]
    ICGC DataPortalENSG00000145819
    TCGA cBioPortalARHGAP26
    AceView (NCBI)ARHGAP26
    Genatlas (Paris)ARHGAP26
    WikiGenes23092
    SOURCE (Princeton)ARHGAP26
    Genomic and cartography
    GoldenPath hg19 (UCSC)ARHGAP26  -     chr5:142150292-142608572 +  5q31   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)ARHGAP26  -     5q31   [Description]    (hg38-Dec_2013)
    EnsemblARHGAP26 - 5q31 [CytoView hg19]  ARHGAP26 - 5q31 [CytoView hg38]
    Mapping of homologs : NCBIARHGAP26 [Mapview hg19]  ARHGAP26 [Mapview hg38]
    OMIM605370   607785   
    Gene and transcription
    Genbank (Entrez)AB014521 AK092488 AK095220 AK123519 AK124521
    RefSeq transcript (Entrez)NM_001135608 NM_015071
    RefSeq genomic (Entrez)NC_000005 NC_018916 NG_016711 NT_029289 NW_004929324
    Consensus coding sequences : CCDS (NCBI)ARHGAP26
    Cluster EST : UnigeneHs.654668 [ NCBI ]
    CGAP (NCI)Hs.654668
    Alternative Splicing GalleryENSG00000145819
    Gene ExpressionARHGAP26 [ NCBI-GEO ]   ARHGAP26 [ EBI - ARRAY_EXPRESS ]   ARHGAP26 [ SEEK ]   ARHGAP26 [ MEM ]
    Gene Expression Viewer (FireBrowse)ARHGAP26 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)23092
    GTEX Portal (Tissue expression)ARHGAP26
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9UNA1 (Uniprot)
    NextProtQ9UNA1  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9UNA1
    Splice isoforms : SwissVarQ9UNA1 (Swissvar)
    PhosPhoSitePlusQ9UNA1
    Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domains : Interpro (EBI)PH_dom-like    PH_domain    RHG26    Rho_GTPase_activation_prot    RhoGAP_dom    SH3_domain   
    Domain families : Pfam (Sanger)PH (PF00169)    RhoGAP (PF00620)    SH3_9 (PF14604)   
    Domain families : Pfam (NCBI)pfam00169    pfam00620    pfam14604   
    Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  SH3 (SM00326)  
    DMDM Disease mutations23092
    Blocks (Seattle)ARHGAP26
    PDB (SRS)1UGV   
    PDB (PDBSum)1UGV   
    PDB (IMB)1UGV   
    PDB (RSDB)1UGV   
    Structural Biology KnowledgeBase1UGV   
    SCOP (Structural Classification of Proteins)1UGV   
    CATH (Classification of proteins structures)1UGV   
    SuperfamilyQ9UNA1
    Human Protein AtlasENSG00000145819
    Peptide AtlasQ9UNA1
    HPRD05643
    IPIIPI00007913   IPI00216360   IPI00903169   IPI01013429   IPI00791808   IPI00792369   IPI00795168   IPI00894083   IPI00892900   IPI00892802   IPI00953710   IPI00916603   IPI00916775   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9UNA1
    IntAct (EBI)Q9UNA1
    FunCoupENSG00000145819
    BioGRIDARHGAP26
    STRING (EMBL)ARHGAP26
    ZODIACARHGAP26
    Ontologies - Pathways
    QuickGOQ9UNA1
    Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  phospholipid binding  cellular_component  cytosol  cytoskeleton  focal adhesion  signal transduction  nervous system development  actin cytoskeleton organization  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
    Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  phospholipid binding  cellular_component  cytosol  cytoskeleton  focal adhesion  signal transduction  nervous system development  actin cytoskeleton organization  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
    REACTOMEQ9UNA1 [protein]
    REACTOME PathwaysR-HSA-194840 Rho GTPase cycle [pathway]
    NDEx Network
    Atlas of Cancer Signalling NetworkARHGAP26
    Wikipedia pathwaysARHGAP26
    Orthology - Evolution
    OrthoDB23092
    GeneTree (enSembl)ENSG00000145819
    Phylogenetic Trees/Animal Genes : TreeFamARHGAP26
    Homologs : HomoloGeneARHGAP26
    Homology/Alignments : Family Browser (UCSC)ARHGAP26
    Gene fusions - Rearrangements
    Fusion : MitelmanCLDN18/ARHGAP26 [3q22.3/5q31.3]  [t(3;5)(q22;q31)]  
    Fusion : MitelmanSPOCK1/ARHGAP26 [5q31.2/5q31.3]  [t(5;5)(q31;q31)]  
    Fusion : COSMICKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]  [fusion_1936]  [fusion_1937]  [fusion_1938]  [fusion_1939]  
    Fusion: TCGASPOCK1 5q31.2 ARHGAP26 5q31.3 LUAD
    Fusion : TICdbKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]
    Polymorphisms : SNP, variants
    NCBI Variation ViewerARHGAP26 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP26
    dbVarARHGAP26
    ClinVarARHGAP26
    1000_GenomesARHGAP26 
    Exome Variant ServerARHGAP26
    ExAC (Exome Aggregation Consortium)ARHGAP26 (select the gene name)
    Genetic variants : HAPMAP23092
    Genomic Variants (DGV)ARHGAP26 [DGVbeta]
    Mutations
    ICGC Data PortalARHGAP26 
    TCGA Data PortalARHGAP26 
    Broad Tumor PortalARHGAP26
    OASIS PortalARHGAP26 [ Somatic mutations - Copy number]
    Cancer Gene: CensusARHGAP26 
    Somatic Mutations in Cancer : COSMICARHGAP26 
    intOGen PortalARHGAP26
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    BioMutasearch ARHGAP26
    DgiDB (Drug Gene Interaction Database)ARHGAP26
    DoCM (Curated mutations)ARHGAP26 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP26 (select a term)
    intoGenARHGAP26
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
    Diseases
    DECIPHER (Syndromes)5:142150292-142608572  ENSG00000145819
    CONAN: Copy Number AnalysisARHGAP26 
    Mutations and Diseases : HGMDARHGAP26
    OMIM605370    607785   
    MedgenARHGAP26
    Genetic Testing Registry ARHGAP26
    NextProtQ9UNA1 [Medical]
    TSGene23092
    GENETestsARHGAP26
    Huge Navigator ARHGAP26 [HugePedia]
    snp3D : Map Gene to Disease23092
    BioCentury BCIQARHGAP26
    ClinGenARHGAP26
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD23092
    Chemical/Pharm GKB GenePA134946198
    Clinical trialARHGAP26
    Miscellaneous
    canSAR (ICR)ARHGAP26 (select the gene name)
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    Litterature
    PubMed32 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineARHGAP26
    EVEXARHGAP26
    GoPubMedARHGAP26
    iHOPARHGAP26
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu May 26 11:51:00 CEST 2016

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