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ARHGAP31 Gene

protein-coding   GIFtS: 56
GCID: GC03P119013

Rho GTPase Activating Protein 31

  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 311 2
CDGAP2 3 5
Cdc42 GTPase-Activating Protein2 3
AOS12 5
KIAA12043 5
Rho GTPase-Activating Protein 312

External Ids:    HGNC: 292161   Entrez Gene: 575142   Ensembl: ENSG000000310817   OMIM: 6109115   UniProtKB: Q2M1Z33   

Export aliases for ARHGAP31 gene to outside databases

Previous GC identifer: GC03P116388


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARHGAP31 Gene:
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases
which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive
and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown
to regulate two GTPases involved in protein trafficking and cell growth. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGAP31 Gene:
ARHGAP31 (Rho GTPase activating protein 31) is a protein-coding gene. Diseases associated with ARHGAP31 include adams-oliver syndrome 1, and oliver syndrome. GO annotations related to this gene include SH3 domain binding and GTPase activator activity. An important paralog of this gene is ARHGAP30.

UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3
Function: Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading,
polarized lamellipodia formation and cell migration

Gene Wiki entry for ARHGAP31 Gene


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ARHGAP31
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGAP31 promoter sequence
   Search Chromatin IP Primers for ARHGAP31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGAP31


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

Entrez Gene cytogenetic band: 3q13.33   Ensembl cytogenetic band:  3q13.33   HGNC cytogenetic band: 3q13.33

ARHGAP31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP31 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P119013:  view genomic region     (about GC identifiers)

Start:
119,013,220 bp from pter      End:
119,139,561 bp from pter
Size:
126,342 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 31  
Size: 1444 amino acids; 156985 Da
Subunit: Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA (By similarity). Interacts with
GTP-loaded RHOU
Developmental stage: Mainly expressed in fetal heart and muscle
Sequence caution: Sequence=BAA86518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q9ULL6

Explore the universe of human proteins at neXtProt for ARHGAP31: NX_Q2M1Z3

Explore proteomics data for ARHGAP31 at MOPED

Post-translational modifications: 

  • Phosphorylation on Thr-789 reduces GAP activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGAP31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065805.2  
    ENSEMBL proteins: 
     ENSP00000264245   ENSP00000418429  
    Reactome Protein details: Q2M1Z3

    ARHGAP31 Human Recombinant Protein Products:

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    Abcam antibodies for ARHGAP31
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    ARHGAP31 Assay Products:

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    Cloud-Clone Corp. CLIAs for ARHGAP31


    (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 Q2M1Z3

    ProtoNet protein and cluster: Q2M1Z3

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3
    Similarity: Contains 1 Rho-GAP domain


    ARHGAP31 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: RHG31_HUMAN, Q2M1Z3
    Function: Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading,
    polarized lamellipodia formation and cell migration

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0017124SH3 domain binding IEA--
         
    ARHGAP31 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGAP31
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGAP31
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    miRNA
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    Block miRNA regulation of human, mouse, rat ARHGAP31 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP31 (see all 34):
    hsa-miR-582-3p hsa-miR-29a hsa-miR-4267 hsa-miR-3161 hsa-miR-1243 hsa-miR-761 hsa-miR-4264 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidARHGAP31 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARHGAP31
    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP31

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGAP31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGAP31

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP31


    (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 UniProtKB/Swiss-Prot
    RHG31_HUMAN, Q2M1Z3: Cell projection, lamellipodium. Cell junction, focal adhesion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    cytoskeleton2
    golgi apparatus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005925focal adhesion IEA--
    GO:0030027lamellipodium IEA--

    ARHGAP31 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 ARHGAP31 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
    3G protein signaling Regulation of CDC42 activity
    G protein signaling Regulation of CDC42 activity
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ARHGAP31
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for ARHGAP31
        G-protein signaling Regulation of CDC42 activity

    1 Reactome Pathway for ARHGAP31
        Rho GTPase cycle



    ARHGAP31 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGAP31
    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP31

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

    Selected Interacting proteins for ARHGAP31 (Q2M1Z32, 3 ENSP000002642454) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITSN1Q158112, 3, ENSP000003707194MINT-7302489 I2D: score=4 STRING: ENSP00000370719
    SMURF1Q9HCE73, ENSP000003546214I2D: score=1 STRING: ENSP00000354621
    RAC1P630003, ENSP000003484614I2D: score=4 STRING: ENSP00000348461
    CDC42P609533, ENSP000003144584I2D: score=1 STRING: ENSP00000314458
    TGFBR1P368973, ENSP000003641334I2D: score=2 STRING: ENSP00000364133
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0043547positive regulation of GTPase activity ----
    GO:0051056regulation of small GTPase mediated signal transduction TAS--

    ARHGAP31 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 ARHGAP31 (RHG31)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARHGAP31 gene: 
    NM_020754.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264245(uc003ecj.4) ENST00000482743
    miRNA
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    Block miRNA regulation of human, mouse, rat ARHGAP31 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARHGAP31 (see all 34):
    hsa-miR-582-3p hsa-miR-29a hsa-miR-4267 hsa-miR-3161 hsa-miR-1243 hsa-miR-761 hsa-miR-4264 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidARHGAP31 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ARHGAP31
    Predesigned siRNA for gene silencing in human, mouse, rat ARHGAP31
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ARHGAP31 (NM_020754)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARHGAP31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGAP31
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARHGAP31
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARHGAP31
      QuantiTect SYBR Green Assays in human, mouse, rat ARHGAP31
      QuantiFast Probe-based Assays in human, mouse, rat ARHGAP31

    Selected AceView cDNA sequences (see all 90):

    CA437092 AA296608 AA458627 AA933880 AB033030 BU732138 BM708381 AA425616 
    AA743273 BX952664 AW954242 H24948 BM874044 BX507186 BI907556 AA418632 
    AL603530 BU146487 CA309030 H44008 CA446668 AA157412 BG820846 AW262783 

    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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    ARHGAP31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTTTCCCT
    ARHGAP31 Expression
    About this image


    ARHGAP31 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Surface Ectoderm (Integumentary System)    fully expand to see all 2 entries
             Surface Ectoderm Cells Surface Ectoderm
             Surface Ectoderm
     
     Epidermis (Integumentary System)
             Surface Ectoderm Cells Surface Ectoderm
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Ectoderm (Gastrulation Derivatives)
             Surface Ectoderm Cells Surface Ectoderm
    ARHGAP31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP31 Protein Expression
        Custom PCR Arrays for ARHGAP31
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP31

    (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 and fungi.

    Orthologs for ARHGAP31 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap311 , 5 Rho GTPase activating protein 311, 5 82.74(n)1
    79.45(a)1
      16 (26.87 cM)5
    125491  NM_020260.21  NP_064656.21 
     385983405 
    chicken
    (Gallus gallus)
    Aves ARHGAP316
    Rho GTPase activating protein 31
    50(a)
    1 ↔ 1
    1(80151496-80204080)
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP316
    Rho GTPase activating protein 31
    49(a)
    1 ↔ 1
    3(180921312-181043748)
    zebrafish
    (Danio rerio)
    Actinopterygii arhgap316
    Rho GTPase activating protein 31
    38(a)
    1 ↔ 1
    5(70667694-70717855) ENSDARG00000059472
    fruit fly
    (Drosophila melanogaster)
    Insecta CdGAPr6
    CdGAPr
    16(a)
    1 → many
    2L(19774873-19791882)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RGD16
    GTPase-activating protein (RhoGAP) for Rho3p and R...
    18(a)
    1 → many
    II(732639-734639) YBR260C


    ENSEMBL Gene Tree for ARHGAP31 (if available)
    TreeFam Gene Tree for ARHGAP31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGAP31 gene
    ARHGAP302  RALBP12  ARHGAP322  ARHGAP332  
    Selected SIMAP similar genes for ARHGAP31 using alignment to 2 protein entries:     RHG31_HUMAN (see all proteins) (see all similar genes):
    RICS    ARHGAP12    ARHGAP42    OPHN1    CHN1    CHN2
    MYO9A    ARHGAP10    ARHGAP24    ARHGAP44    SH3BP1    ABR
    ARHGAP27    FAM13A    HMHA1    MYO9B    ARHGAP25    ARHGAP21

    ARHGAP31 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), 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 ARHGAP31 (see all 2752)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs680953181,2
    C--116386877(+) GACTG-/CGGGAG 1 -- us2k10--------
    rs2013054431,2
    C--116389452(-) AAAAAA/GGAAAA 1 -- int10--------
    rs765703941,2
    C--116391824(+) TTGAG-/AC/CA 
            
    AGGAA
    1 -- int10--------
    rs106430891,2
    C--116391826(+) TGAGA-/AC/CA 
            
    GGAAA
    1 -- int1 trp30--------
    rs1134646871,2
    C--116392220(+) CACAC-/ACCGTGT 1 -- int11Minor allele frequency- AC:0.50CSA 2
    rs105751451,2
    C--116392221(+) TAGAA-/ACACACA 1 -- int10--------
    rs113470201,2
    C,F--116395956(+) GACTGT/-TTTTT 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs2012636761,2
    --116415966(+) CGTAG-/GTTTT 
            
    GTTTT
    1 -- int10--------
    rs1391588601,2
    C--116420786(+) AACTT-/AAGAAA
            
    GTATG
    1 -- int10--------
    rs2010201951,2
    C--116435484(+) TCAAG-/TGACAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ARHGAP31 (119013220 - 119139561 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ARHGAP31:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv997290CNV Deletion20482838
    nsv822227CNV Loss20364138
    nsv3962CNV Loss18451855
    nsv829694CNV Gain17160897

    Human Gene Mutation Database (HGMD): ARHGAP31
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGAP31
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGAP31

    (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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    OMIM gene information: 610911   
    OMIM disorders: 100300  
    UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3
  • Adams-Oliver syndrome 1 (AOS1) [MIM:100300]: A disorder characterized by the congenital absence of skin
    (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located
    anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where
    it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb
    truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely,
    metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects,
    syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly
    variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as
    cutis marmorata and dilated scalp veins. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 14 diseases for ARHGAP31:    
    About MalaCards
    adams-oliver syndrome 1    oliver syndrome    adams oliver syndrome    aplasia cutis congenita
    aortic atherosclerosis    syndactyly    celiac disease    atherosclerosis
    coronary artery disease    schizophrenia    multiple myeloma    myeloma
    endotheliitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ARHGAP31:
    Aortic atherosclerosis

    ARHGAP31 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGAP31
    Human Genome Epidemiology (HuGE) Navigator: ARHGAP31 (0 documents)

    Export disorders for ARHGAP31 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 ARHGAP31 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ARHGAP31)
        Utopia: connect your pdf to the dynamic
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    1. The human orthologue of CdGAP is a phosphoprotein and a GTPase- activating protein for Cdc42 and Rac1 but not RhoA. (PubMed id 16519628)1, 2, 3, 9 Tcherkezian J.... Lamarche-Vane N. (Biol. Cell 2006)
    2. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. (PubMed id 21565291)1, 2 Southgate L....Trembath R.C. (Am. J. Hum. Genet. 2011)
    3. Multiple common variants for celiac disease influencing immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (Nat. Genet. 2010)
    4. GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2. (PubMed id 12819203)1, 3 Zhao C.... Feng G.S. (J. Biol. Chem. 2003)
    5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    6. CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac. (PubMed id 9786927)1, 3 Lamarche-Vane N. and Hall A. (J. Biol. Chem. 1998)
    7. A comprehensive family-based replication study of schizophrenia genes. (PubMed id 23894747)1 Aberg K.A....van den Oord E.J. (JAMA Psychiatry 2013)
    8. CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments. (PubMed id 22907917)1 Wormer D....Turner C.E. (Cytoskeleton (Hoboken) 2012)
    9. A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity. (PubMed id 22518840)1 Karimzadeh F....Lamarche-Vane N. (J. Biol. Chem. 2012)
    10. ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion. (PubMed id 21565175)2 Naji L.... Aspenstrom P. (Biochem. Biophys. Res. Commun. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57514 HGNC: 29216 AceView: CDGAP Ensembl:ENSG00000031081 euGenes: HUgn57514
    ECgene: ARHGAP31 H-InvDB: ARHGAP31

    (According to HUGE)
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    HUGE: KIAA1204

    (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 ARHGAP31 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 ARHGAP31 gene:
    Search GeneIP for patents involving ARHGAP31

    GeneCards and IP:
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