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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARHGAP40 Gene

protein-coding   GIFtS: 41
GCID: GC20P037252          (predicted)

Rho GTPase Activating Protein 40

(Previous name: chromosome 20 open reading frame 95)
(Previous symbol: C20orf95)
  Search for ARHGAP40
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rho GTPase Activating Protein 401 2
C20orf951 2 3
Rho-Type GTPase-Activating Protein 402 3
Chromosome 20 Open Reading Frame 951
dJ1100H13.42
Rho GTPase-Activating Protein 402

External Ids:    HGNC: 162261   Entrez Gene: 3435782   Ensembl: ENSG000001241437   UniProtKB: Q5TG303   

Export aliases for ARHGAP40 gene to outside databases

Previous GC identifer: GC20P033967


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ARHGAP40 Gene: 
ARHGAP40 (Rho GTPase activating protein 40) is a protein-coding gene. Among its related super-pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP36.

UniProtKB/Swiss-Prot: RHG40_HUMAN, Q5TG30
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ARHGAP40
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ARHGAP40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGAP40


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

Entrez Gene cytogenetic band: 20q11.23   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

ARHGAP40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP40 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P037252:  view genomic region     (about GC identifiers)

Start:
37,230,577 bp from pter      End:
37,279,678 bp from pter
Size:
49,102 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RHG40_HUMAN, Q5TG30 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 40  
Size: 622 amino acids; 68908 Da
Sequence caution: Sequence=CAI19168.2; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for ARHGAP40: NX_Q5TG30

Explore proteomics data for ARHGAP40 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TG30

  • ARHGAP40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGAP40 Protein Expression
    REFSEQ proteins: NP_001157903.1  
    ENSEMBL proteins: 
     ENSP00000243967   ENSP00000362443   ENSP00000414822   ENSP00000362442  
    Reactome Protein details: Q5TG30
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ARHGAP40 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARHGAP: Rho GTPase activating proteins

    2 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q5TG30

    ProtoNet protein and cluster: Q5TG30

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: RHG40_HUMAN, Q5TG30
    Similarity: Contains 1 Rho-GAP domain


    ARHGAP40 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHG40_HUMAN, Q5TG30
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
         
    ARHGAP40 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ARHGAP40:
     Decreased POU5F1-GFP protein e 

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARHGAP40 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    2Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ARHGAP40
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    ARHGAP40 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARHGAP40

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

    5/34 Interacting proteins for ARHGAP40 (ENSP000003624424) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGAP4ENSP000002037864STRING: ENSP00000203786
    ARHGDIAENSP000002693214STRING: ENSP00000269321
    ARHGDIBENSP000002289454STRING: ENSP00000228945
    ARHGDIGENSP000002194094STRING: ENSP00000219409
    ARHGEF11ENSP000003571774STRING: ENSP00000357177
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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--

    ARHGAP40 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARHGAP40 (RHG40)

    Search CenterWatch for drugs/clinical trials and news about ARHGAP40 / RHG40

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARHGAP40 gene: 
    NM_001164431.1  

    Unigene Cluster for ARHGAP40:

    Rho GTPase activating protein 40
    Hs.451997  [show with all ESTs]
    Unigene Representative Sequence: NM_001164431
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243967 ENST00000373346 ENST00000414158 ENST00000373345(uc021wdn.1)

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    4 DOTS entries:

    DT.99933748  DT.95259192  DT.99933753  DT.120823960 

    9 AceView cDNA sequences:

    BU633157 AI651005 BU196328 AW629759 CD389710 AA633408 AW749955 AL935102 
    BF857264 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARHGAP40 expression in normal human tissues (normalized intensities)      ARHGAP40 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARHGAP40 Expression
    About this image


    ARHGAP40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See ARHGAP40 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.451997
        SABiosciences Custom PCR Arrays for ARHGAP40
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP40

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ARHGAP40 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap401 , 5 Rho GTPase activating protein 401, 5 80.29(n)1
    75.87(a)1
      2 (78.72 cM)5
    5454811  NM_001145015.11  NP_001138487.11 
     1585127965 
    chicken
    (Gallus gallus)
    Aves ARHGAP401 Rho GTPase activating protein 40 64.75(n)
    61.58(a)
      419168  NM_001145016.1  NP_001138488.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP406
    Rho GTPase activating protein 40
    52(a)
    1 ↔ 1
    4(141210603-141255678)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.54872 Transcribed sequence with weak similarity to protein more 75.71(n)    BQ523285.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ARHGAP406
    Rho GTPase activating protein 40
    31(a)
    1 ↔ 1
    6(59823389-59840041)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170826
    --
    19(a)
    1 → many
    2R(631836-645548)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LRG16
    Putative GTPase-activating protein (GAP) involved ...
    8(a)
    1 → many
    IV(22823-25876)


    ENSEMBL Gene Tree for ARHGAP40 (if available)
    TreeFam Gene Tree for ARHGAP40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGAP40 gene
    ARHGAP362  STARD132  ARHGAP62  ARHGAP182  DLC12  ARHGAP11A2  ARHGAP282  ARHGAP11B2  
    STARD82  
    5 SIMAP similar genes for ARHGAP40 using alignment to 4 protein entries:     RHG40_HUMAN (see all proteins):
    ARHGAP12    ARHGAP28    ARHGAP18    ARHGAP21    ARHGAP9

    ARHGAP40 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1281 SNPs in ARHGAP40 are shown (see all 1281)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81184941,2
    C,F,A,H--37228659(+) AACTAG/TGTTTT 1 -- us2k126Minor allele frequency- T:0.11NS EA NA WA CSA 2492
    rs1483117681,2
    C--37228718(+) CTCAAA/GCATTT 1 -- us2k10--------
    rs1900179941,2
    C--37228719(+) TCAAGA/CATTTA 1 -- us2k10--------
    rs1813036851,2
    --37228767(+) CTAATA/GGCTCA 1 -- us2k10--------
    rs1866140261,2
    --37228809(+) ATTCAC/TGCCCA 1 -- us2k10--------
    rs1417831691,2
    --37228865(+) ATCCAC/TCCATC 1 -- us2k10--------
    rs1906621541,2
    --37228885(+) ATCCAC/TCCATC 1 -- us2k10--------
    rs1828553641,2
    C--37229143(+) CAGTGG/TCATGG 1 -- us2k10--------
    rs61285031,2
    H--37229180(+) GCTCAG/AGAGAA 1 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs60267551,2
    C,F,A,H--37229193(+) GGATGC/GGTGGT 1 -- us2k116Minor allele frequency- G:0.11NS EA NA WA CSA 789

    HapMap Linkage Disequilibrium report for ARHGAP40 (37230577 - 37279678 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ARHGAP40:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1002417CNV Deletion20482838
    nsv3372CNV Insertion18451855

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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.)
    About This Section
      --

    (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)
    About This Section

    PubMed article for ARHGAP40 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ARHGAP40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 343578 HGNC: 16226 AceView: LOC343578 Ensembl:ENSG00000124143 euGenes: HUgn343578
    ECgene: ARHGAP40 H-InvDB: ARHGAP40

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARHGAP40 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARHGAP40 gene:
    Search GeneIP for patents involving ARHGAP40

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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