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ARHGAP40 Gene

protein-coding   GIFtS: 42
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ARHGAP40 Gene:
ARHGAP40 (Rho GTPase activating protein 40) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ARHGAP40
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGAP40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001157903.1  
    ENSEMBL proteins: 
     ENSP00000243967   ENSP00000362443   ENSP00000414822   ENSP00000362442  
    Reactome Protein details: Q5TG30

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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

    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


    Find genes that share domains with ARHGAP40           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
         
    Find genes that share ontologies with ARHGAP40           About GenesLikeMe


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

    Animal Models:
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    (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
    cytoskeleton3
    nucleus3
    plasma membrane3
    mitochondrion1

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

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

    Find genes that share ontologies with ARHGAP40           About GenesLikeMe


    (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 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 Transduction0.58


    Find genes that share SuperPaths with ARHGAP40           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ARHGAP40
        Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGAP40
    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP40

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

    Selected Interacting proteins for ARHGAP40 (ENSP000003624424) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOBTB1ENSP000003386714STRING: ENSP00000338671
    RHOBTB2ENSP000002518224STRING: ENSP00000251822
    VAV1ENSP000003022694STRING: ENSP00000302269
    VAV2ENSP000003609164STRING: ENSP00000360916
    ARHGAP4ENSP000002037864STRING: ENSP00000203786
    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--

    Find genes that share ontologies with ARHGAP40           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:

    AI651005 BU633157 BU196328 CD389710 AW629759 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™, 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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    ARHGAP40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARHGAP40 Expression
    About this image

    ARHGAP40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.451997
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    In Situ
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    (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 ARHGAP40 gene from Selected species (see all 11)    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 80.24(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 64.7(n)
    61.58(a)
      419168  NM_001145016.1  NP_001138488.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP406
    Rho GTPase activating protein 40
    53(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 LOC1018860141 rho GTPase-activating protein 40-like 57.68(n)
    54.45(a)
      101886014  XM_005172134.1  XP_005172191.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170826
    --
    19(a)
    1 → many
    2R(631836-645548)


    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)
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    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

    Find genes that share paralogs with ARHGAP40           About GenesLikeMe



    (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 ARHGAP40 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 article for ARHGAP40 gene integrated from 10 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. (Nature 2001)

    (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)
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    Entrez Gene: 343578 HGNC: 16226 AceView: LOC343578 Ensembl:ENSG00000124143 euGenes: HUgn343578
    ECgene: ARHGAP40 H-InvDB: ARHGAP40

    (According to HUGE)
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      --

    (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 ARHGAP40 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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