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ARHGAP20 (Rho GTPase activating protein 20)

Identity

Other namesKIAA1391
RARHOGAP
Hugo ARHGAP20
Location 11q23.1
Local_order telomeric to ATM

DNA/RNA

 
  Genomic organization (A) and transcript variants (B) of ARHGAP20.
(A) Gene structure (drawn to scale): black boxes represent exons.
(B) Transcripts (drawn to scale): boxes, exons; UTR, untranslated region; light shaded box, coding region; shaded and dark shaded boxes, nucleotide sequences coding for protein domains (PH: pleckstrin homology domain, RA: ras association domain; RhoGAP: RhoGAP domain).
Description 19 exons spanning 136.1 kb genomic DNA.
Transcription 5.9-6.2 kb mRNA, coding sequence: 3.5-3.6 kb
Alternative splicing of the first 5 exons results in the expression of 5 transcript variants (ARHGAP20-1e, ARHGAP20-1d, ARHGAP20-1ad, ARHGAP20-1be, ARHGAP20-1c).
Pseudogene None.

Protein

 
  Schematic representation of ARHGAP20 protein variants as deduced from the transcripts. Hatched box, amino-terminal extension of unknown function; PH: pleckstrin homology domain, RA: ras association domain; RhoGAP: RhoGAP domain.
Description The amino-terminal region shows significant homology to a pleckstrin homology (PH) domain commonly found in eukaryotic signaling proteins. Adjacent to the PH domain a Ras association (RA) domain is postulated, which is found in proteins involved in GTPase-mediated signaling processes. The central section of the protein contains a RhoGAP domain, which is crucial for the regulation of Rho-like GTPases by Rho GTPase-activating proteins in the course of transmitting diverse intracellular signals.
Expression Predominantly expressed in brain, but transcripts were also detected in peripheral blood lymphocytes.
Localisation Cytoplasm
Function The presence of a RhoGAP domain in combination with PH and RA modules indicates that ARHGAP20 is involved in the regulation of Rho-family GTPases. ARHGAP20 was shown to be activated by Rap1 and to induce inactivation of Rho, resulting in the neurite outgrowth.
Homology Mouse: RarhoGAP (RhoGAP having the RA domain), Arhgap20.
Rat: RahoGAP (RhoGAP having the RA domain), Arhgap20.

Mutations

Note Single nucleotide polymorphism 1785T/C (transcript variant ARHGAP20-1ad, AY496263).
Germinal None detected.
Somatic In the tumour cells of one case of B-cell chronic lymphocytic leukemia, the missense mutation 2995T>G (S999A; transcript variant ARHGAP20-1ad, AY496263) was found.

Implicated in

Entity B-cell chronic lymphocytic leukemia (B-CLL).
Note In the tumour cells of two B-CLL cases, ARHGAP20 was found affected by translocations that rearranged the gene with BRWD3 (Xq21) and a novel gene on 13q14 (unpublished data), respectively. No fusion transcripts were generated. ARHGAP20 transcript expression is significantly upregulated in B-CLL lymphocytes vs. CD19+ control B cells.
  
Entity t(X;11)(q21;q23)
Disease B-cell chronic lymphocytic leukemia (B-CLL).
Cytogenetics t(X;11)(q21;q23)
Hybrid/Mutated Gene ARHGAP20 - BRWD3
Abnormal Protein None detected.
  
Entity t(11;13)(q23;q14)
Disease B-cell chronic lymphocytic leukemia (B-CLL).
Cytogenetics t(11;13)(q23;14)
Hybrid/Mutated Gene ARHGAP20 - novel gene on 13q14 (unpublished data)
Abnormal Protein None detected.
  

External links

Nomenclature
HugoARHGAP20
GDBARHGAP20
Entrez_GeneARHGAP20  57569  Rho GTPase activating protein 20
Cards
AtlasARHGAP20ID42979ch11q23
GeneCardsARHGAP20
EnsemblARHGAP20 [Search_View]   ENSG00000137727 [Gene_View]
GenatlasARHGAP20
GeneLynxARHGAP20
eGenomeARHGAP20
euGene57569
Genomic and cartography
GoldenPathARHGAP20  -  11q23.1   chr11:109952976-110088661 -  11q22.3-q23.1   [Description]    (hg18-Mar_2006)
EnsemblARHGAP20 - 11q22.3-q23.1 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneARHGAP20
Gene and transcription
GenbankAB037812 [ ENTREZ ]
GenbankAI936560 [ ENTREZ ]
GenbankAY496263 [ ENTREZ ]
GenbankAY496264 [ ENTREZ ]
GenbankAY496265 [ ENTREZ ]
RefSeqNM_020809 [ SRS ]    NM_020809 [ ENTREZ ]
RefSeqAC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeqNC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeqNT_033899 [ SRS ]    NT_033899 [ ENTREZ ]
RefSeqNW_925173 [ SRS ]    NW_925173 [ ENTREZ ]
AceViewARHGAP20 AceView - NCBI
UnigeneHs.6136 [ SRS ]    Hs.6136 [ NCBI ]     HS6136 [ spliceNest ]
Fast-db13700 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ9P2F6 [ SRS]    Q9P2F6 [ EXPASY ]     Q9P2F6 [ INTERPRO ]
PrositePS50003 PH_DOMAIN [ SRS ]    PS50003 PH_DOMAIN [ Expasy ]
PrositePS50200 RA [ SRS ]    PS50200 RA [ Expasy ]
PrositePS50238 RHOGAP [ SRS ]    PS50238 RHOGAP [ Expasy ]
InterproIPR001849 PH [ SRS ]    IPR001849 PH [ EBI ]
InterproIPR011993 PH_type [ SRS ]    IPR011993 PH_type [ EBI ]
InterproIPR000159 Ras-assoc [ SRS ]    IPR000159 Ras-assoc [ EBI ]
InterproIPR000198 RhoGAP [ SRS ]    IPR000198 RhoGAP [ EBI ]
CluSTrQ9P2F6
PfamPF00788 RA [ SRS ]    PF00788 RA [ Sanger ]    pfam00788 [ NCBI-CDD ]
PfamPF00620 RhoGAP [ SRS ]    PF00620 RhoGAP [ Sanger ]    pfam00620 [ NCBI-CDD ]
SmartSM00233 PH [EMBL]
SmartSM00324 RhoGAP [EMBL]
BlocksQ9P2F6
HPRD10657
Protein Interaction databases
DIPQ9P2F6
IntActQ9P2F6
Polymorphism : SNP, mutations, diseases
OMIM609568    [ map ]   
GENECLINICS609568
SNPARHGAP20 [dbSNP-NCBI]  
SNPNM_020809 [SNP-NCI]  
SNPARHGAP20 [GeneSNPs - Utah]  ARHGAP20] [HGBASE - SRS]
HAPMAPARHGAP20 [HAPMAP]  
COSMICARHGAP20 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbARHGAP20 [Translocation breakpoints In Cancer]  
HGMDARHGAP20
General knowledge
Family BrowserARHGAP20 [UCSC Family Browser]
SOURCENM_020809
SMDHs.6136
SAGEHs.6136
GOGTPase activator activity [Amigo]  GTPase activator activity
GOintracellular [Amigo]  intracellular
GOcell cycle [Amigo]  cell cycle
GOsignal transduction [Amigo]  signal transduction
GOnegative regulation of cell cycle [Amigo]  negative regulation of cell cycle
PubGeneARHGAP20
TreeFamARHGAP20
CTD57569 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeARHGAP20 Related clones (RZPD - Berlin)
PubMed
PubMed7 Pubmed reference(s) in LocusLink

Bibliography

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O
DNA research : an international journal for rapid publication of reports on genes and genomes. 2000 ; 7 (1) : 65-73.
PMID 10718198
 
Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats.
Katoh M, Katoh M
International journal of oncology. 2003 ; 23 (5) : 1471-1476.
PMID 14532992
 
Identification of RARhoGAP, a novel putative RhoGAP gene expressed in male germ cells.
Curry BJ, Su H, Law EG, McLaughlin EA, Nixon B, Aitken RJ
Genomics. 2004 ; 84 (2) : 406-418.
PMID 15234003
 
Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes.
Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dhner H, Stilgenbauer S, Lichter P
Genes, chromosomes & cancer. 2005 ; 42 (2) : 128-143.
PMID 15543602
 
RA-RhoGAP, Rap-activated Rho GTPase-activating protein implicated in neurite outgrowth through Rho.
Yamada T, Sakisaka T, Hisata S, Baba T, Takai Y
The Journal of biological chemistry. 2005 ; 280 (38) : 33026-33034.
PMID 16014623
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2006Claudia Kalla
DKFZ, Div. Molecular Genetics (B060), Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany

Citation

This paper should be referenced as such :
Kalla C . ARHGAP20 (Rho GTPase activating protein 20). Atlas Genet Cytogenet Oncol Haematol. August 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/ARHGAP20ID42979ch11q23.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 2 08:21:53 2008


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