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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

Alias (NCBI)GRAF (GTPase activating protein for Rho associated with FAK)
KIAA0621
OPHN1L
HGNC (Hugo) ARHGAP26
HGNC Alias symbGRAF
KIAA0621
OPHN1L
OPHN1L1
HGNC Alias nameGTPase regulator associated with the focal adhesion kinase pp125
LocusID (NCBI) 23092
Atlas_Id 291
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 142770377 and ends at 143229011 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ARHGAP26.png]
Local_order Just centromeric of GRL.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 / acute non lymphocytic leukemia --> KMT2A - ARHGAP26
    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
    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 ]


    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
    LRG (Locus Reference Genomic)LRG_1127
    Cards
    AtlasGRAFID291
    Entrez_Gene (NCBI)ARHGAP26    Rho GTPase activating protein 26
    AliasesGRAF; GRAF1; OPHN1L; OPHN1L1
    GeneCards (Weizmann)ARHGAP26
    Ensembl hg19 (Hinxton)ENSG00000145819 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000145819 [Gene_View]  ENSG00000145819 [Sequence]  chr5:142770377-143229011 [Contig_View]  ARHGAP26 [Vega]
    ICGC DataPortalENSG00000145819
    TCGA cBioPortalARHGAP26
    AceView (NCBI)ARHGAP26
    Genatlas (Paris)ARHGAP26
    SOURCE (Princeton)ARHGAP26
    Genetics Home Reference (NIH)ARHGAP26
    Genomic and cartography
    GoldenPath hg38 (UCSC)ARHGAP26  -     chr5:142770377-143229011 +  5q31.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)ARHGAP26  -     5q31.3   [Description]    (hg19-Feb_2009)
    GoldenPathARHGAP26 - 5q31.3 [CytoView hg19]  ARHGAP26 - 5q31.3 [CytoView hg38]
    ImmunoBaseENSG00000145819
    Genome Data Viewer NCBIARHGAP26 [Mapview hg19]  
    OMIM605370   607785   
    Gene and transcription
    Genbank (Entrez)AB014521 AF141884 AI888512 AK092488 AK095220
    RefSeq transcript (Entrez)NM_001135608 NM_001349547 NM_015071
    Consensus coding sequences : CCDS (NCBI)ARHGAP26
    Gene ExpressionARHGAP26 [ NCBI-GEO ]   ARHGAP26 [ EBI - ARRAY_EXPRESS ]   ARHGAP26 [ SEEK ]   ARHGAP26 [ MEM ]
    Gene Expression Viewer (FireBrowse)ARHGAP26 [ Firebrowse - Broad ]
    GenevisibleExpression of ARHGAP26 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)23092
    GTEX Portal (Tissue expression)ARHGAP26
    Human Protein AtlasENSG00000145819-ARHGAP26 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9UNA1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ9UNA1  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9UNA1
    PhosPhoSitePlusQ9UNA1
    Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domains : Interpro (EBI)AH/BAR_dom_sf    GRAF    GRAF_BAR    GRAF_SH3    PH-like_dom_sf    PH_domain    Rho_GTPase_activation_prot    RhoGAP_dom    SH3-like_dom_sf    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)  
    Conserved Domain (NCBI)ARHGAP26
    PDB (RSDB)1UGV   
    PDB Europe1UGV   
    PDB (PDBSum)1UGV   
    PDB (IMB)1UGV   
    Structural Biology KnowledgeBase1UGV   
    SCOP (Structural Classification of Proteins)1UGV   
    CATH (Classification of proteins structures)1UGV   
    SuperfamilyQ9UNA1
    AlphaFold pdb e-kbQ9UNA1   
    Human Protein Atlas [tissue]ENSG00000145819-ARHGAP26 [tissue]
    HPRD05643
    Protein Interaction databases
    DIP (DOE-UCLA)Q9UNA1
    IntAct (EBI)Q9UNA1
    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  regulation of catalytic 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  regulation of catalytic activity  regulation of small GTPase mediated signal transduction  
    REACTOMEQ9UNA1 [protein]
    REACTOME PathwaysR-HSA-194840 [pathway]   
    NDEx NetworkARHGAP26
    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]  
    Fusion : MitelmanSPOCK1::ARHGAP26 [5q31.2/5q31.3]  
    Fusion : COSMICKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]  [fusion_1936]  [fusion_1937]  [fusion_1938]  [fusion_1939]  
    Fusion : QuiverARHGAP26
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerARHGAP26 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP26
    dbVarARHGAP26
    ClinVarARHGAP26
    MonarchARHGAP26
    1000_GenomesARHGAP26 
    Exome Variant ServerARHGAP26
    GNOMAD BrowserENSG00000145819
    Varsome BrowserARHGAP26
    ACMGARHGAP26 variants
    VarityQ9UNA1
    Genomic Variants (DGV)ARHGAP26 [DGVbeta]
    DECIPHERARHGAP26 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisARHGAP26 
    Mutations
    ICGC Data PortalARHGAP26 
    TCGA Data PortalARHGAP26 
    Broad Tumor PortalARHGAP26
    OASIS PortalARHGAP26 [ Somatic mutations - Copy number]
    Cancer Gene: CensusARHGAP26 
    Somatic Mutations in Cancer : COSMICARHGAP26  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DARHGAP26
    Mutations and Diseases : HGMDARHGAP26
    intOGen PortalARHGAP26
    LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
    BioMutaARHGAP26
    DgiDB (Drug Gene Interaction Database)ARHGAP26
    DoCM (Curated mutations)ARHGAP26
    CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP26
    OncoKBARHGAP26
    NCG (London)ARHGAP26
    Cancer3DARHGAP26
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM605370    607785   
    Orphanet
    DisGeNETARHGAP26
    MedgenARHGAP26
    Genetic Testing Registry ARHGAP26
    NextProtQ9UNA1 [Medical]
    GENETestsARHGAP26
    Target ValidationARHGAP26
    Huge Navigator ARHGAP26 [HugePedia]
    ClinGenARHGAP26
    Clinical trials, drugs, therapy
    MyCancerGenomeARHGAP26
    Protein Interactions : CTDARHGAP26
    Pharm GKB GenePA134946198
    PharosQ9UNA1
    Clinical trialARHGAP26
    Miscellaneous
    canSAR (ICR)ARHGAP26
    HarmonizomeARHGAP26
    DataMed IndexARHGAP26
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    Litterature
    PubMed49 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    EVEXARHGAP26
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    indexed on : Fri Oct 8 21:19:09 CEST 2021

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