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ARHGAP17 Gene

protein-coding   GIFtS: 59
GCID: GC16M024931

Rho GTPase Activating Protein 17

  See ARHGAP17-related disease
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 171 2     NADRIN2
RICH12 3 5     PP3672
Rho-Type GTPase-Activating Protein 172 3     PP45342
RICH-12 3     WBP152
MST0662     Neuron-Associated Developmentally Regulated Protein2
MST1102     Rho GTPase-Activating Protein 172
MSTP0382     RhoGAP Interacting With CIP4 Homologs 12
MSTP0662     RhoGAP Interacting With CIP4 Homologs Protein 13
MSTP1102     

External Ids:    HGNC: 182391   Entrez Gene: 551142   Ensembl: ENSG000001407507   OMIM: 6082935   UniProtKB: Q68EM73   

Export aliases for ARHGAP17 gene to outside databases

Previous GC identifers: GC16M024898 GC16M024838 GC16M023024


(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 ARHGAP17 Gene:
RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such
as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).(supplied by OMIM, Apr 2004)

GeneCards Summary for ARHGAP17 Gene:
ARHGAP17 (Rho GTPase activating protein 17) is a protein-coding gene. Diseases associated with ARHGAP17 include syringomyelia. GO annotations related to this gene include SH3 domain binding and GTPase activator activity. An important paralog of this gene is ARHGAP5.

UniProtKB/Swiss-Prot: RHG17_HUMAN, Q68EM7
Function: Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity
of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase
activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts
by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction
transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the
Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by
inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1




(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_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGAP17 gene promoter:
         c-Fos   TBP   AP-1   AML1a   Lmo2   E47   Arnt   SEF-1 (1)   c-Jun   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGAP17 promoter sequence
   Search Chromatin IP Primers for ARHGAP17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGAP17


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

Entrez Gene cytogenetic band: 16p12.1   Ensembl cytogenetic band:  16p12.1   HGNC cytogenetic band: 16p12.2-p12.1

ARHGAP17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGAP17 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M024931:  view genomic region     (about GC identifiers)

Start:
24,930,706 bp from pter      End:
25,026,987 bp from pter
Size:
96,282 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RHG17_HUMAN, Q68EM7 (See protein sequence)
Recommended Name: Rho GTPase-activating protein 17  
Size: 881 amino acids; 95437 Da
Subunit: Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3.
Interacts with SLC9A3R1, FNBP1, TRIP10, CAPZA (CAPZA1, CAPZA2 or CAPZA3), CAPZB, CD2AP and SH3KBP1/CIN85
Sequence caution: Sequence=AAH01241.1; Type=Erroneous initiation; Sequence=AAQ13586.1; Type=Erroneous initiation;
Sequence=AAQ13632.1; Type=Erroneous initiation;
Secondary accessions: A8K6M6 Q6ZUS4 Q7Z2F2 Q8NDG2 Q96KS2 Q96KS3 Q96SS8 Q9BVF6 Q9H8U5 Q9NW54
Alternative splicing: 7 isoforms:  Q68EM7-1   Q68EM7-2   Q68EM7-3   Q68EM7-4   Q68EM7-5   Q68EM7-6   Q68EM7-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARHGAP17: NX_Q68EM7

Explore proteomics data for ARHGAP17 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGAP17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001006635.1  NP_060524.4  

    ENSEMBL proteins: 
     ENSP00000289968   ENSP00000303130   ENSP00000461639   ENSP00000460985   ENSP00000460600  
     ENSP00000406701   ENSP00000459074   ENSP00000461411   ENSP00000461426   ENSP00000406950  
    Reactome Protein details: Q68EM7

    ARHGAP17 Human Recombinant Protein Products:

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    antibodies-online peptides for ARHGAP17

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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

    4 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR008936 Rho_GTPase_activation_prot
     IPR004148 BAR_dom
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q68EM7

    ProtoNet protein and cluster: Q68EM7

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: RHG17_HUMAN, Q68EM7
    Domain: The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to
    tight junctions
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 Rho-GAP domain


    Find genes that share domains with ARHGAP17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: RHG17_HUMAN, Q68EM7
    Function: Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity
    of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase
    activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts
    by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction
    transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the
    Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by
    inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI--
    GO:0017124SH3 domain binding IEA--
         
    Find genes that share ontologies with ARHGAP17           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ARHGAP17

    miRNA
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    miRTarBase miRNAs that target ARHGAP17:
    hsa-mir-324-3p (MIRT042883), hsa-mir-25-3p (MIRT050323), hsa-let-7b-5p (MIRT032476), hsa-mir-320a (MIRT044803)

    Block miRNA regulation of human, mouse, rat ARHGAP17 using miScript Target Protectors
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    hsa-miR-607 hsa-miR-562 hsa-miR-3942-5p hsa-miR-1271 hsa-miR-1297 hsa-miR-1184 hsa-miR-4274 hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmidARHGAP17 3' UTR sequence
    Inhib. RNA
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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 UniProtKB/Swiss-Prot
    RHG17_HUMAN, Q68EM7: Membrane; Peripheral membrane protein. Cytoplasm. Cell junction, tight junction.
    Note=Associates with membranes and concentrates at sites of cell-cell contact
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    cytoskeleton1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005923tight junction IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with ARHGAP17           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 ARHGAP17 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
    3Regulation of RAC1 activity
    Regulation of RAC1 activity
    4Regulation of CDC42 activity
    Regulation of CDC42 activity
    5G protein signaling Regulation of CDC42 activity
    G protein signaling Regulation of CDC42 activity


    Find genes that share SuperPaths with ARHGAP17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ARHGAP17
        G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for ARHGAP17
        Regulation of CDC42 activity
    Regulation of RAC1 activity

    1 Reactome Pathway for ARHGAP17
        Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGAP17
    Interactions:

        Search GeneGlobe Interaction Network for ARHGAP17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ARHGAP17 (Q68EM71, 2, 3 ENSP000002899684) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R1O147452, 3, ENSP000002626134MINT-73246 I2D: score=1 STRING: ENSP00000262613
    AMOTQ4VCS51, 3, ENSP000003610274EBI-1642807,EBI-2511319 I2D: score=2 STRING: ENSP00000361027
    ABL1P005193, ENSP000003614234I2D: score=2 STRING: ENSP00000361423
    BTKQ061873, ENSP000003081764I2D: score=2 STRING: ENSP00000308176
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    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 ARHGAP17           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 ARHGAP17 (RHG17)



    (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 ARHGAP17 gene (2 alternative transcripts): 
    NM_001006634.2  NM_018054.5  

    Unigene Cluster for ARHGAP17:

    Rho GTPase activating protein 17
    Hs.373793  [show with all ESTs]
    Unigene Representative Sequence: NM_001006634
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000289968(uc002dnb.3 uc002dnc.3 uc010vcf.2) ENST00000573703(uc002dnd.1)
    ENST00000570320(uc002dmy.3) ENST00000303665 ENST00000571843 ENST00000575283(uc002dmz.3)
    ENST00000573765 ENST00000571406 ENST00000572314(uc002dna.3) ENST00000575412
    ENST00000570841 ENST00000575656 ENST00000576387 ENST00000575975 ENST00000455311
    ENST00000571480 ENST00000573625 ENST00000571575
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    hsa-miR-607 hsa-miR-562 hsa-miR-3942-5p hsa-miR-1271 hsa-miR-1297 hsa-miR-1184 hsa-miR-4274 hsa-miR-3908
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    Additional mRNA sequence: 

    AF113218.1 AF163257.1 AF173885.1 AF258560.1 AF258580.1 AJ306731.1 AJ306732.1 AK001170.1 
    AK023281.1 AK027567.1 AK094886.1 AK291691.1 AK301055.1 AK301500.1 AL833975.1 BC001241.1 
    BC080195.1 

    22 DOTS entries:

    DT.100815965  DT.216134  DT.100030688  DT.100815967  DT.92442667  DT.100815962  DT.97864243  DT.40209242 
    DT.95107057  DT.120679517  DT.97864242  DT.100815963  DT.99987265  DT.120679528  DT.120679539  DT.40242910 
    DT.70102564  DT.91773827  DT.92442668  DT.97810108  DT.40259593  DT.95074048 

    Selected AceView cDNA sequences (see all 320):

    AA971636 AI668815 AW779655 CR603587 AI129883 AI147197 AI339396 BM667956 
    BU616653 AJ306732 BM479828 AW518935 AU142211 AI743592 BU186075 CK429866 
    BX104405 BQ962830 BM794535 AI380238 AI743066 C01418 BQ004461 BQ028693 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP17 (see all 11)    About this scheme

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

    ExUns: 17e
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ARHGAP17

    (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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    ARHGAP17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTAATTTGA
    ARHGAP17 Expression
    About this image


    ARHGAP17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Spleen (Hematopoietic System)
    ARHGAP17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGAP17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.373793

    UniProtKB/Swiss-Prot: RHG17_HUMAN, Q68EM7
    Tissue specificity: Ubiquitously expressed. Expressed at higher level in heart and placenta

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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 ARHGAP17 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgap171 , 5 Rho GTPase activating protein 171, 5 82.48(n)1
    86.35(a)1
      7 (67.42 cM)5
    704971  NM_144529.21  NP_653112.21 
     1232791505 
    chicken
    (Gallus gallus)
    Aves ARHGAP171 Rho GTPase activating protein 17 73.58(n)
    73.65(a)
      416564  XM_414864.3  XP_414864.2 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGAP176
    Rho GTPase activating protein 17
    76(a)
    1 ↔ 1
    GL343986.1(59840-101525)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arhgap171 Rho GTPase activating protein 17 72.1(n)
    74.81(a)
      549590  XM_004918034.1  XP_004918091.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgap17b1 Rho GTPase activating protein 17b 67.55(n)
    68.43(a)
      100141341  NM_001114906.1  NP_001108378.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP92B1 RhoGAP92B 44.56(n)
    33.26(a)
      42371  NM_142587.2  NP_650844.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y34B4A.86
    Protein Y34B4A.8, isoform b
    25(a)
    1 → many
    X(5271843-5275282) WBGene00021324


    ENSEMBL Gene Tree for ARHGAP17 (if available)
    TreeFam Gene Tree for ARHGAP17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ARHGAP17 gene
    ARHGAP52  SRGAP12  ARHGAP242  ARHGAP222  SRGAP32  ARHGAP352  ARHGAP442  SH3BP12  
    ARHGAP252  SRGAP22  ARHGAP42  
    3 SIMAP similar genes for ARHGAP17 using alignment to 8 protein entries:     RHG17_HUMAN (see all proteins):
    ARHGAP44    ARHGAP12    SH3BP1

    Find genes that share paralogs with ARHGAP17           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ARHGAP17
    PGOHUM00000247784 PGOHUM00000248153


    (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)
    About This Section

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    Selected SNPs for ARHGAP17 (see all 2120)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1448774481,2
    --24930284(+) GAGACC/GGGATA 2 -- ds50010--------
    rs610746581,2
    C,F--24930297(+) TTTCAC/TGCCTT 2 -- ds50014Minor allele frequency- T:0.24WA CSA 123
    rs1813536971,2
    --24930382(+) AACCCA/GGTGGG 2 -- ds50010--------
    rs1402726551,2
    --24930387(+) GGTGGC/GGCTGA 2 -- ds50010--------
    rs1860015541,2
    C--24930417(+) GGGAGA/TCTGAG 2 -- ds50010--------
    rs1883081881,2
    --24930533(+) CCTGGC/TGGCCT 2 -- ds50010--------
    rs285404341,2
    C,F,H--24930548(+) CACTGT/CTGCGA 2 -- ds500121Minor allele frequency- C:0.33NS EA NA WA CSA 2226
    rs1477946321,2
    --24930647(+) GCAACA/GCACAC 2 -- ds50010--------
    rs1125014771,2
    C--24930661(+) TCATGCA/-CACAC 2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1452815151,2
    C--24930662(+) CACAC-/AC/CA 
            
    TCCAC
    2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ARHGAP17 (24930706 - 25026987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ARHGAP17:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273352CNV Insertion20981092
    nsv509607CNV Insertion20534489
    nsv833175CNV Loss17160897
    nsv905681CNV Loss21882294
    dgv840e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARHGAP17
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGAP17

    (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: 608293    OMIM disorders: --

    1 disease for ARHGAP17:    
    About MalaCards
    syringomyelia

    1 disease from the University of Copenhagen DISEASES database for ARHGAP17:
    Syringomyelia

    Find genes that share disorders with ARHGAP17           About GenesLikeMe

    Genetic Association Database (GAD): ARHGAP17
    Human Genome Epidemiology (HuGE) Navigator: ARHGAP17 (1 document)

    Export disorders for ARHGAP17 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 ARHGAP17 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with ARHGAP17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1. (PubMed id 11431473)1, 2, 3 Richnau N. and Aspenstroem P. (J. Biol. Chem. 2001)
    2. Nadrin, a novel neuron-specific GTPase-activating protein involved in regulated exocytosis. (PubMed id 10967100)1, 3, 9 Harada A....Umeda M. (J. Biol. Chem. 2000)
    3. Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP. (PubMed id 11285285)1, 2, 9 Reczek D. and Bretscher A. (J. Cell Biol. 2001)
    4. 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)
    5. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)1, 2 Wells C.D.... Pawson T. (Cell 2006)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Proteomic investigation of the interactome of FMNL1 in hematopoietic cells unveils a role in calcium-dependent membrane plasticity. (PubMed id 23182705)1 Han Y....Krackhardt A.M. (J Proteomics 2013)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (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: 55114 HGNC: 18239 AceView: ARHGAP17 Ensembl:ENSG00000140750 euGenes: HUgn55114
    ECgene: ARHGAP17 H-InvDB: ARHGAP17

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ARHGAP17 Pharmacogenomics, SNPs, Pathways

    (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 ARHGAP17 gene:
    Search GeneIP for patents involving ARHGAP17

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



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