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

RHOQ Gene

protein-coding   GIFtS: 64
GCID: GC02P046768

Ras Homolog Family Member Q

(Previous names: RAS-like, family 7, member A, ras homolog gene family, member...)
(Previous symbols: RASL7A, ARHQ)
  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)
About This Section

Aliases
Ras Homolog Family Member Q1 2     RAS-Like, Family 7, Member A1 2
ARHQ1 2 3 5     Ras-Like Protein Family Member 7A2 3
RASL7A1 2 3     Ras-Like Protein TC102 3
TC102 3 5     TC10A2
Ras Homolog Gene Family, Member Q1 2     Rho-Related GTP-Binding Protein RhoQ2

External Ids:    HGNC: 177361   Entrez Gene: 234332   Ensembl: ENSG000001197297   OMIM: 6058575   UniProtKB: P170813   

Export aliases for RHOQ gene to outside databases

Previous GC identifers: GC02P046745 GC02P046682 GC02P046623 GC02P046507


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

Entrez Gene summary for RHOQ Gene:
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active
GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote
reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein
is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the
exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly
acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified
on chromosomes 2 and 14. (provided by RefSeq, Aug 2011)

GeneCards Summary for RHOQ Gene: 
RHOQ (ras homolog family member Q) is a protein-coding gene. Diseases associated with RHOQ include myotonic dystrophy, and wiskott-aldrich syndrome, and among its related super-pathways are Signaling by Rho GTPases and COPII (Coat Protein 2) Mediated Vesicle Transport. GO annotations related to this gene include profilin binding and GTP binding. An important paralog of this gene is RHOH.

UniProtKB/Swiss-Prot: RHOQ_HUMAN, P17081
Function: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive
GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved
in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the
formation of thin, actin-rich surface projections called filopodia

Gene Wiki entry for RHOQ 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHOQ gene promoter:
         Pbx1a   HTF   STAT5A   Ik-3   AP-2gamma   C/EBPalpha   Max   Ik-2   LyF-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHOQ promoter sequence
   Search SABiosciences Chromatin IP Primers for RHOQ

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


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P046768:  view genomic region     (about GC identifiers)

Start:
46,768,945 bp from pter      End:
46,811,827 bp from pter
Size:
42,883 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: RHOQ_HUMAN, P17081 (See protein sequence)
Recommended Name: Rho-related GTP-binding protein RhoQ precursor  
Size: 205 amino acids; 22659 Da
Subunit: Interacts with CDC42EP4 in a GTP-dependent manner. Interacts with ARHGAP33/TCGAP (By similarity).
Interacts with CDC42EP1, CDC42EP2, CDC42EP3, PARD6A, PARD6G (and probably PARD6B) in a GTP-dependent manner. Part
of a quaternary complex containing PARD3, some PARD6 protein (PARD6A, PARD6B or PARD6G) and some atypical PKC
protein (PRKCI or PRKCZ). Interacts with EXO70 in a GTP-dependent manner. Interacts with GOPC
Subcellular location: Cytoplasm. Cell membrane; Lipid-anchor
Sequence caution: Sequence=AAA36547.1; Type=Erroneous initiation; Sequence=AAM21123.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for RHOQ:
2ATX (3D)    
Secondary accessions: D6W5A6 Q0VGN1 Q52LS8 Q53SJ1 Q6NS39 Q6P146 Q7Z480

Explore the universe of human proteins at neXtProt for RHOQ: NX_P17081

Explore proteomics data for RHOQ at MOPED 

Post-translational modifications:

  • UniProtKB: May be post-translationally modified by both palmitoylation and polyisoprenylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17081

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

    RHOQ Protein Expression
    REFSEQ proteins: NP_036381.2  
    ENSEMBL proteins: 
     ENSP00000238738   ENSP00000393140   ENSP00000428624   ENSP00000428006   ENSP00000429003  
    Reactome Protein details: P17081
    Human Recombinant Protein Products for RHOQ: 
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    Cloud-Clone Corp. Proteins for RHOQ 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005884actin filament IDA10445846
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----

    RHOQ 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
    4 InterPro protein domains:
     IPR003578 Small_GTPase_Rho
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P17081

    ProtoNet protein and cluster: P17081

    2 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB003578 Ras small GTPase


    UniProtKB/Swiss-Prot: RHOQ_HUMAN, P17081
    Similarity: Belongs to the small GTPase superfamily. Rho family


    RHOQ 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: RHOQ_HUMAN, P17081
    Function: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive
    GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved
    in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the
    formation of thin, actin-rich surface projections called filopodia
    Enzyme regulation: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP
    for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation
    inhibitors which inhibit the dissociation of the nucleotide from the GTPase

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA10445846
    GO:0005515protein binding ----
    GO:0005522profilin binding IPI10445846
    GO:0005525GTP binding IEA--
    GO:0032427GBD domain binding IPI10445846
         
    RHOQ for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RHOQ:
     Decreased focal adhesion (FA)  

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRHOQ 3' UTR sequence
    Inhib. RNA
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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 RHOQ About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    2COPII (Coat Protein 2) Mediated Vesicle Transport
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    3Signaling by GPCR
    Signal Transduction0.55
    4Clathrin-dependent protein traffic
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    5Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    Adipocytokines & Insulin Signaling0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RHOQ
        Adipocytokines & Insulin Signaling


    3 GeneGo (Thomson Reuters) Pathways for RHOQ
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / ER-to-Golgi in CF
    Normal wtCFTR traffic / ER-to-Golgi

    3 BioSystems Pathways for RHOQ
        Insulin Signaling
    Insulin Pathway
    Insulin-mediated glucose transport


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


    1         Kegg Pathway  (Kegg details for RHOQ):
        Insulin signaling pathway


    RHOQ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RHOQ

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

    5/158 Interacting proteins for RHOQ (P170813 ENSP000002387384) via UniProtKB, MINT, STRING, and/or I2D (see all 158)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42EP1Q005873, ENSP000002490144I2D: score=4 STRING: ENSP00000249014
    CDC42EP3Q9UKI23, ENSP000002953244I2D: score=4 STRING: ENSP00000295324
    CDC42EP2O146133, ENSP000002792494I2D: score=3 STRING: ENSP00000279249
    PFN1P077373, ENSP000002256554I2D: score=3 STRING: ENSP00000225655
    CDC42BPAQ5VT253, ENSP000003557314I2D: score=2 STRING: ENSP00000355731
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA10445846
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0008286insulin receptor signaling pathway IMP11309621
    GO:0008360regulation of cell shape IEA--

    RHOQ 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

    RHOQ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RHOQ

    3 HMDB Compounds for RHOQ    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    5 Novoseek inferred chemical compound relationships for RHOQ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 59.8 9 16950130 (3), 11162552 (1), 12436329 (1), 10967094 (1)
    gdp 57.5 1 10967094 (1)
    glucose 49.5 3 16472699 (2), 12242347 (1)
    lipid 29.4 13 11502760 (3), 16472699 (2), 12972548 (2), 12436329 (1) (see all 5)
    tyrosine 24.4 3 16472699 (1), 20071559 (1)

    Search CenterWatch for drugs/clinical trials and news about RHOQ

    (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 RHOQ gene: 
    NM_012249.3  

    Unigene Cluster for RHOQ:

    Ras homolog family member Q
    Hs.709193  [show with all ESTs]
    Unigene Representative Sequence: NM_012249
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465198 ENST00000238738(uc002rva.3) ENST00000432183 ENST00000489471
    ENST00000482449 ENST00000473428 ENST00000494370 ENST00000489448
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    Additional mRNA sequence: 

    AF498976.1 AK095329.1 BC013135.1 BC056154.1 BC065291.1 BC070485.1 BC093805.1 BC101806.1 
    M31470.1 

    24/32 DOTS entries (see all 32):

    DT.101964554  DT.95219874  DT.449747  DT.95219908  DT.121012490  DT.100884833  DT.121012465  DT.312837 
    DT.120981385  DT.92451558  DT.97777552  DT.100884834  DT.100884850  DT.100884868  DT.120769710  DT.121012416 
    DT.95219876  DT.100679258  DT.100884832  DT.100884864  DT.121012411  DT.121012462  DT.121012520  DT.100038200 

    24/407 AceView cDNA sequences (see all 407):

    AA370257 CD677396 AA746255 AW473986 AA158096 BU616934 BQ009089 R82731 
    AA043151 CA941451 AA913502 AL133947 AW015279 CN480025 T29433 BX450223 
    AA165310 CR594469 W23989 AI523244 BU178450 AW272245 BF197198 BQ722144 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RHOQ    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5
    SP1:                                    
    SP2:        -                           
    SP3:                                    


    ECgene alternative splicing isoforms for RHOQ

    (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

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


    RHOQ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             left ventricular apex samples   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Adipose (Muscoskeletal System)
             omental adipose tissue   
     
     Liver (Hepatobiliary System)
             Liver Bud
     
     Epithelium
             breast epithelium   

    See RHOQ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHOQ

    SOURCE GeneReport for Unigene cluster: Hs.709193
        SABiosciences Custom PCR Arrays for RHOQ
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHOQ

    (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 RHOQ gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhoq1 , 5 ras homolog gene family, member Q1, 5 94.15(n)1
    99.51(a)1
      17 (56.90 cM)5
    1042151  NM_145491.21  NP_663466.21 
     869630825 
    chicken
    (Gallus gallus)
    Aves RHOQ1 ras homolog gene family, member Q 87.64(n)
    96.1(a)
      395114  NM_204461.1  NP_989792.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHOQ6
    Uncharacterized protein
    94(a)
    1 ↔ 1
    2(142741899-142784740)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi15a092 wufi15a09 77.16(n)   327510  BC045850.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC426
    Small rho-like GTPase, essential for establishment...
    63(a)
    1 → many
    XII(604212-604787)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHOQ gene
    RHOH2  RHOBTB12  RHOV2  RHOU2  RHOG2  RHOBTB22  RAC12  RAC22  
    CDC422  RHOJ2  RAC32  
    18/37 SIMAP similar genes for RHOQ using alignment to 6 protein entries:     RHOQ_HUMAN (see all proteins) (see all similar genes):
    RHOJ    CDC42    RAC2    RHOA    RHOC    RAC3
    RHOU    RAC1    ARHG    RHOG    RHOF    RHOH
    RHOB    RHOV    RAB10    RHOD    ARHA    ARHE

    RHOQ for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RHOQ
    PGOHUM00000248161 PGOHUM00000240296 PGOHUM00000240942


    (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

    10/680 SNPs in RHOQ are shown (see all 680)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861752441,2
    --46771436(+) CTCTGA/GGACTC 1 -- int10--------
    rs1906365161,2
    --46771581(+) GGTTCC/TCCCCG 1 -- int10--------
    rs1828583451,2
    --46771728(+) TAAAGA/GGCCAA 1 -- int10--------
    rs1118656971,2
    F--46771870(+) TTCCAC/TATGTC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1451043621,2
    --46771932(+) TGTCTG/TTGGGG 1 -- int10--------
    rs1422415061,2
    C--46771952(+) TAGTAC/GAATTT 1 -- int10--------
    rs1882758461,2
    --46771977(+) TGGGGC/TTTAAA 1 -- int10--------
    rs1925570701,2
    --46772156(+) AGGGGG/TAGTGC 1 -- int10--------
    rs1160068021,2
    F--46772162(+) AGTGCC/ATTGAT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1388613151,2
    C--46772283(+) GCCAGC/TTCTCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for RHOQ (46768945 - 46811827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RHOQ:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720016CNV Deletion23290073
    esv23599CNV Loss19812545
    dgv149e55CNV Loss17911159
    nsv873996CNV Gain21882294
    nsv9713CNV Gain18304495
    dgv1181e1CNV Complex17122850

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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
    OMIM gene information: 605857    OMIM disorders: --

    6 diseases for RHOQ:    About MalaCards
    myotonic dystrophy    wiskott-aldrich syndrome    teratocarcinoma    cystic fibrosis
    insulin resistance    endotheliitis


    RHOQ for disorders           About GeneDecksing

    Genetic Association Database (GAD): RHOQ
    Human Genome Epidemiology (HuGE) Navigator: RHOQ (3 documents)

    Export disorders for RHOQ 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)
    About This Section

    PubMed articles for RHOQ gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with RHOQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line. (PubMed id 2108320)1, 2, 3 Drivas G.T.... D'Eustachio P. (1990)
    2. PIST: a novel PDZ/coiled-coil domain binding partner for the rho- family GTPase TC10. (PubMed id 11162552)1, 2, 9 Neudauer C.L.... Macara I.G. (2001)
    3. Identification of type 2 diabetes-associated combinat ion of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (2010)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    5. Regulation of cystic fibrosis transmembrane regulator trafficking and protein expression by a Rho family small GTPase TC10. (PubMed id 15546864)1, 2 Cheng J.... Guggino W.B. (2005)
    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. (2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    8. The cell-polarity protein Par6 links Par3 and atypical protein kinase C to Cdc42. (PubMed id 10934474)1, 2 Joberty G.... Macara I.G. (2000)
    9. The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. (PubMed id 10490598)1, 2 Joberty G.... Macara I.G. (1999)
    10. Cellular functions of TC10, a Rho family GTPase: regulation of morphology, signal transduction and cell growth. (PubMed id 10445846)1, 9 Murphy G.A....Rush M.G. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      (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: 23433 HGNC: 17736 AceView: RHOQ Ensembl:ENSG00000119729 euGenes: HUgn23433
    ECgene: RHOQ Kegg: 23433 H-InvDB: RHOQ

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

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

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



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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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