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ARHGAP20 Gene

protein-coding   GIFtS: 57
GCID: GC11M110447

Rho GTPase Activating Protein 20

  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 201 2     Rho GTPase Activating Protein 20 Variant 22
Rho-Type GTPase-Activating Protein 202 3     Rho GTPase-Activating Protein 202
RARHOGAP2     KIAA13913
RA And RhoGAP Domain Containing Protein2     

External Ids:    HGNC: 183571   Entrez Gene: 575692   Ensembl: ENSG000001377277   OMIM: 6095685   UniProtKB: Q9P2F63   

Export aliases for ARHGAP20 gene to outside databases

Previous GC identifers: GC11M109985 GC11M109952 GC11M106372


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ARHGAP20 Gene:
ARHGAP20 (Rho GTPase activating protein 20) is a protein-coding gene. Diseases associated with ARHGAP20 include keratoconus, and chronic lymphocytic leukemia. GO annotations related to this gene include phospholipid binding and GTPase activator activity. An important paralog of this gene is TAGAP.

UniProtKB/Swiss-Prot: RHG20_HUMAN, Q9P2F6
Function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state (By
similarity)




(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_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGAP20 gene promoter:
         NF-1   RP58   FOXD3   Nkx2-5   Meis-1b   C/EBPalpha   Egr-2   AREB6   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGAP20 promoter sequence
   Search Chromatin IP Primers for ARHGAP20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGAP20


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.2

ARHGAP20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP20 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M110447:  view genomic region     (about GC identifiers)

Start:
110,447,766 bp from pter      End:
110,583,912 bp from pter
Size:
136,147 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RHG20_HUMAN, Q9P2F6 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 20  
Size: 1191 amino acids; 132608 Da
Developmental stage: Low expression is found in fetal liver
Caution: The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but
BRWD3 is localized to Xq21 and not to Xq13
Sequence caution: Sequence=AAH39340.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH39340.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA92629.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAF84979.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAF84979.1; Type=Miscellaneous discrepancy;
Note=Probable cloning artifact;
1 PDB 3D structure from and Proteopedia for ARHGAP20:
3MSX (3D)    
Secondary accessions: A8K8C5 B0YIW7 B0YIW8 Q6RJU1 Q6RJU2 Q6RJU3 Q6RJU5 Q8IXS1
Alternative splicing: 4 isoforms:  Q9P2F6-1   Q9P2F6-2   Q9P2F6-3   Q9P2F6-4   

Explore the universe of human proteins at neXtProt for ARHGAP20: NX_Q9P2F6

Explore proteomics data for ARHGAP20 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGAP20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001245344.1  NP_001245345.1  NP_001245346.1  NP_001245347.1  NP_065860.2  

    ENSEMBL proteins: 
     ENSP00000260283   ENSP00000437905   ENSP00000432076   ENSP00000436319   ENSP00000436522  
     ENSP00000431399   ENSP00000349660  
    Reactome Protein details: Q9P2F6

    ARHGAP20 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ARHGAP20

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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

    5 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000159 Ras-assoc
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q9P2F6

    ProtoNet protein and cluster: Q9P2F6

    3 Blocks protein domains:
    IPB000159 RA domain
    IPB000198 RhoGAP domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: RHG20_HUMAN, Q9P2F6
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-associating domain
    Similarity: Contains 1 Rho-GAP domain


    ARHGAP20 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: RHG20_HUMAN, Q9P2F6
    Function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state (By
    similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
         
    ARHGAP20 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ARHGAP20:
     Abundance of large cells with   Decreased viability of wild-ty  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGAP20
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP20 (see all 87):
    hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-374a hsa-miR-10b* hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidARHGAP20 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARHGAP20
    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP20

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ARHGAP20

    Clone
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    GenScript: all cDNA clones in your preferred vector: ARHGAP20 (NM_020809)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGAP20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGAP20

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ARHGAP20 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP20


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    golgi apparatus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--

    ARHGAP20 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 ARHGAP20 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ARHGAP20
        Rho GTPase cycle



    ARHGAP20 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGAP20
    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP20

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for ARHGAP20 (Q9P2F63 ENSP000002602834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    BMPR1BO002383I2D: score=1 
    RHOAENSP000004001754STRING: ENSP00000400175
    GRB2ENSP000003390074STRING: ENSP00000339007
    SIRT5ENSP000003685524STRING: ENSP00000368552
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0051056regulation of small GTPase mediated signal transduction TAS--

    ARHGAP20 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 ARHGAP20 (RHG20)



    (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,
    Conferences by KenesGroup, 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 ARHGAP20 gene (5 alternative transcripts): 
    NM_001258415.1  NM_001258416.1  NM_001258417.1  NM_001258418.1  NM_020809.3  

    Unigene Cluster for ARHGAP20:

    Rho GTPase activating protein 20
    Hs.6136  [show with all ESTs]
    Unigene Representative Sequence: NM_001258415
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260283(uc001pkz.1 uc009yyb.1) ENST00000529591(uc001plb.2)
    ENST00000524756(uc001pky.1) ENST00000528829 ENST00000533353(uc001pla.1)
    ENST00000527598 ENST00000357139
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ARHGAP20 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP20 (see all 87):
    hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-374a hsa-miR-10b* hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidARHGAP20 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ARHGAP20
    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP20
    Clone
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    OriGene clones in human, mouse for ARHGAP20 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARHGAP20 (NM_020809)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGAP20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGAP20
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARHGAP20
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARHGAP20
      QuantiTect SYBR Green Assays in human, mouse, rat ARHGAP20
      QuantiFast Probe-based Assays in human, mouse, rat ARHGAP20

    Additional mRNA sequence: 

    AB037812.1 AK292290.1 AK307602.1 AY496263.1 AY496264.1 AY496265.1 AY496266.1 AY496267.1 
    BC039340.1 

    5 DOTS entries:

    DT.312981  DT.102823760  DT.95139488  DT.102823761  DT.102823762 

    Selected AceView cDNA sequences (see all 46):

    NM_020809 AY496265 AB037812 BX508298 Z39921 BX095222 AY496263 BC039340 
    AY496267 AY496264 AY496266 Z43854 AA884003 AW205620 AA846778 AI698688 
    BI464112 AW892501 CF552743 AI936560 AI222036 BX119603 AI300211 BQ003257 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP20 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
    SP1:        -     -     -                                                                       -                                       
    SP2:                    -     -                                                                 -                                       
    SP3:        -     -     -     -                                                                 -                                       
    SP4:              -     -     -                                                                 -                                       
    SP5:                          -                                                                 -                                       


    ECgene alternative splicing isoforms for ARHGAP20

    (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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    ARHGAP20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTCTGTTA
    ARHGAP20 Expression
    About this image


    ARHGAP20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
    ARHGAP20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6136

    UniProtKB/Swiss-Prot: RHG20_HUMAN, Q9P2F6
    Tissue specificity: Expressed predominantly in the brain. Lower expression is found in lymph nodes

        Custom PCR Arrays for ARHGAP20
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    QuantiFast Probe-based Assays in human, mouse, rat ARHGAP20
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP20

    (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 ARHGAP20 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap201 , 5 Rho GTPase activating protein 201, 5 82.2(n)1
    80.03(a)1
      9 (28.62 cM)5
    2448671  NM_175535.31  NP_780744.21 
     517653375 
    chicken
    (Gallus gallus)
    Aves ARHGAP201 Rho GTPase activating protein 20 65.83(n)
    59.87(a)
      418962  XM_417154.4  XP_417154.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    46(a)
    many ↔ many
    3(186529916-186641525)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.44092 Transcribed sequence with weak similarity to protein more 73.12(n)    AL850639.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgap20b6
    Rho GTPase activating protein 20b
    48(a)
    many ↔ many
    5(24047379-24110426) ENSDARG00000093708
    worm
    (Caenorhabditis elegans)
    Secernentea rga-26
    Protein RGA-2 (rga-2) mRNA, complete cds
    8(a)
    1 → many
    I(11979440-11985655) WBGene00013135


    ENSEMBL Gene Tree for ARHGAP20 (if available)
    TreeFam Gene Tree for ARHGAP20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGAP20 gene
    TAGAP2  
    1 SIMAP similar gene for ARHGAP20 using alignment to 1 protein entry:     RHG20_HUMAN:
    FAM13A

    ARHGAP20 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ARHGAP20 (see all 6)
    PGOHUM00000248880 PGOHUM00000245679 PGOHUM00000246060 PGOHUM00000232601 PGOHUM00000249637


    (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 ARHGAP20 (see all 2792)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1120792621,2
    C,F--110447272(+) GCCAAC/TTTTCA 5 -- ds50012Minor allele frequency- T:0.06CSA WA 119
    rs1827763941,2
    --110447404(+) AAACTC/TAGATA 5 -- ds50010--------
    rs766516991,2
    C,F--110447458(+) TAAGAA/GTACTG 5 -- ds50011Minor allele frequency- G:0.08WA 118
    rs1886902521,2
    --110447507(+) CTAAGA/CAAATG 5 -- ds50010--------
    rs2003764981,2
    --110447647(+) CAACA-/TTGTTAAT 5 -- cds10--------
    rs2014860841,2
    --110447650(+) CATTA-/GATTAT 5 -- ds50010--------
    rs1928998291,2
    --110447655(+) AATTAA/TACTCT 5 -- ds50010--------
    rs1850321461,2
    --110447680(+) GTTAGA/CTTATA 5 -- ds50010--------
    rs1462748241,2
    --110447740(+) CAATTA/CTACAA 5 -- ds50010--------
    rs1878423521,2
    C--110447955(+) CAAAGA/CATTTT 5 -- ut310--------

    HapMap Linkage Disequilibrium report for ARHGAP20 (110447766 - 110583912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARHGAP20 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745065CNV Deletion23290073
    esv2745066CNV Deletion23290073
    esv1311954CNV Deletion17803354
    esv2745067CNV Deletion23290073
    nsv898392CNV Loss21882294
    nsv468868CNV Loss19166990
    dgv242n67CNV Loss20364138
    esv21558CNV Loss19812545
    nsv898393CNV Loss21882294
    nsv832266CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGAP20
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609568    OMIM disorders: --

    UniProtKB/Swiss-Prot: RHG20_HUMAN, Q9P2F6
  • Note=A chromosomal aberration involving ARHGAP20 may be a cause of B-cell chronic lymphocytic leukemia
    (B-CLL). Translocation t(X;11)(q21;q23) with BRWD3 does not result in fusion transcripts but disrupts both genes

  • 9 diseases for ARHGAP20:    
    About MalaCards
    keratoconus    chronic lymphocytic leukemia    b-cell chronic lymphocytic leukemia    sinusitis
    atherosclerosis    leukemia    alzheimer's disease    multiple myeloma
    myeloma


    ARHGAP20 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGAP20
    Human Genome Epidemiology (HuGE) Navigator: ARHGAP20 (1 document)

    Export disorders for ARHGAP20 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 ARHGAP20 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with ARHGAP20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. (PubMed id 14532992)1, 2, 3, 9 Katoh M. and Katoh M. (Int. J. Oncol. 2003)
    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. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. (PubMed id 15543602)1, 2 Kalla C.... Lichter P. (Genes Chromosomes Cancer 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. 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. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (amp 2014)
    7. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (Nat. Genet. 2013)
    8. Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. (PubMed id 22044751)1 Foster M.C....Fox C.S. (BMC Med. Genet. 2011)
    9. Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20. (PubMed id 21500311)1 Herold T....Bohlander S.K. (amp 2011)
    10. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)

    (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)
    About This Section

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    Entrez Gene: 57569 HGNC: 18357 AceView: ARHGAP20 Ensembl:ENSG00000137727 euGenes: HUgn57569
    ECgene: ARHGAP20 H-InvDB: ARHGAP20

    (According to HUGE)
    About This Section

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    HUGE: KIAA1391

    (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 ARHGAP20 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARHGAP20 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ARHGAP20 gene:
    Search GeneIP for patents involving ARHGAP20

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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