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

ARHGEF18 Gene

protein-coding   GIFtS: 58
GCID: GC19P007459

Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 18

(Previous name: rho/rac guanine nucleotide exchange factor (GEF) 18)
  See 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)
About This Section

Aliases
Rho/Rac Guanine Nucleotide Exchange Factor (GEF) 181 2     P114-RhoGEF2
Rho-Specific Guanine Nucleotide Exchange Factor P1141 2     Rho Guanine Nucleotide Exchange Factor 182
Septin-Associated RhoGEF2 3     Rho/Rac Guanine Nucleotide Exchange Factor 182
114 KDa Rho-Specific Guanine Nucleotide Exchange Factor2 3     KIAA05213
SA-RhoGEF2 3     p114-Rho-GEF3
p114RhoGEF2 3     EC 3.4.248
P114-RHO-GEF2     EC 3.6.18

External Ids:    HGNC: 170901   Entrez Gene: 233702   Ensembl: ENSG000001048807   UniProtKB: Q6ZSZ53   

Export aliases for ARHGEF18 gene to outside databases

Previous GC identifers: GC19P007366 GC19P007351 GC19P007128


(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 ARHGEF18 Gene:
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes
include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is
under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a
guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common
feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced
transcript variants encoding different isoforms have been identified. (provided by RefSeq, Oct 2008)

GeneCards Summary for ARHGEF18 Gene: 
ARHGEF18 (Rho/Rac guanine nucleotide exchange factor (GEF) 18) is a protein-coding gene. Diseases associated with ARHGEF18 include mucolipidosis, and among its related super-pathways are NRAGE signals death through JNK and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF2.

UniProtKB/Swiss-Prot: ARHGI_HUMAN, Q6ZSZ5
Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. May play a role in actin cytoskeleton
reorganization in different tissues since its activation induces formation of actin stress fibers. Also act as a
GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G
protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the
integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell
shape change and ROS production




(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_000019.9  NT_077812.2  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARHGEF18 gene promoter:
         ER-alpha   NRSF form 2   E4BP4   AP-2gamma   Evi-1   AP-2beta   SEF-1 (1)   ZID   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARHGEF18 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARHGEF18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF18


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

ARHGEF18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF18 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007459:  view genomic region     (about GC identifiers)

Start:
7,459,999 bp from pter      End:
7,537,371 bp from pter
Size:
77,373 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: ARHGI_HUMAN, Q6ZSZ5 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 18  
Size: 1173 amino acids; 130780 Da
Subunit: Interacts with SEPT9; interaction may inhibit GEF activity. Interacts with Gbetagamma subunits GNB1 and
GNG2
Subcellular location: Cytoplasm. Note=Colocalizes with actin stress fibers
Sequence caution: Sequence=AAH77721.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=BAA25447.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8MV62 B5ME81 O60274 Q6DD92
Alternative splicing: 2 isoforms:  Q6ZSZ5-1   Q6ZSZ5-2   

Explore the universe of human proteins at neXtProt for ARHGEF18: NX_Q6ZSZ5

Explore proteomics data for ARHGEF18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZSZ5

  • 2 DME Specific Peptides for ARHGEF18 (Q6ZSZ5)
     VLVERII  SKLKNGLT 

    ARHGEF18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF18 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124427.1  NP_056133.2  

    ENSEMBL proteins: 
     ENSP00000319200   ENSP00000471597   ENSP00000352995   ENSP00000470729  
    Reactome Protein details: Q6ZSZ5
    Human Recombinant Protein Products for ARHGEF18: 
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    Novus Biologicals ARHGEF18 Protein
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    Cloud-Clone Corp. Proteins for ARHGEF18 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--
    GO:0030054cell junction TAS--
    GO:0045177apical part of cell IDA--

    ARHGEF18 for ontologies           About GeneDecksing



    ARHGEF18 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR015721 RhoGEF-like

    Graphical View of Domain Structure for InterPro Entry Q6ZSZ5

    ProtoNet protein and cluster: Q6ZSZ5

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHGI_HUMAN, Q6ZSZ5
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain


    ARHGEF18 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: ARHGI_HUMAN, Q6ZSZ5
    Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. May play a role in actin cytoskeleton
    reorganization in different tissues since its activation induces formation of actin stress fibers. Also act as a
    GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G
    protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the
    integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell
    shape change and ROS production

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.4.242

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA14512443
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    ARHGEF18 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgef18):
     mortality/aging  no phenotypic analysis 

    ARHGEF18 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARHGEF18 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF18 
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    miRNA
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    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF18 (see all 34):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-200a hsa-miR-141 hsa-miR-372 hsa-miR-93 hsa-miR-302b
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF18 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 ARHGEF18 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    4Signaling by FGFR
    Signalling by NGF0.71
    5Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Signaling by TGF-beta Receptor Complex0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ARHGEF18
        Regulation of RhoA activity

    5/12        Reactome Pathways for ARHGEF18 (see all 12)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    ARHGEF18 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARHGEF18

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

    5/65 Interacting proteins for ARHGEF18 (Q6ZSZ53 ENSP000003529954) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615863, ENSP000004001754I2D: score=3 STRING: ENSP00000400175
    GNB1P628733, ENSP000003678724I2D: score=2 STRING: ENSP00000367872
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TAF10Q129623, ENSP000002994244I2D: score=1 STRING: ENSP00000299424
    YWHAGP619813I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0008360regulation of cell shape IDA14512443
    GO:0030036actin cytoskeleton organization IDA14512443
    GO:0035023regulation of Rho protein signal transduction IEA--

    ARHGEF18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARHGEF18 (ARHGI)

    3 HMDB Compounds for ARHGEF18    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--

    Search CenterWatch for drugs/clinical trials and news about ARHGEF18 / ARHGI

    (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 ARHGEF18 gene (2 alternative transcripts): 
    NM_001130955.1  NM_015318.3  

    Unigene Cluster for ARHGEF18:

    Rho/Rac guanine nucleotide exchange factor (GEF) 18
    Hs.465761  [show with all ESTs]
    Unigene Representative Sequence: NM_001130955
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319670(uc002mgh.3) ENST00000599752 ENST00000359920(uc002mgi.3)
    ENST00000595600 ENST00000594665
    miRNA
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    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-200a hsa-miR-141 hsa-miR-372 hsa-miR-93 hsa-miR-302b
    SwitchGear 3'UTR luciferase reporter plasmidARHGEF18 3' UTR sequence
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    Additional mRNA sequence: 

    AB011093.1 AK074372.1 AK127045.1 AK127453.1 BC008016.1 BC014994.1 BC077721.1 

    13 DOTS entries:

    DT.40251226  DT.102824063  DT.212673  DT.99993360  DT.101960565  DT.100774698  DT.121497559  DT.97846677 
    DT.102824065  DT.121497557  DT.121497578  DT.40269316  DT.100000149 

    24/175 AceView cDNA sequences (see all 175):

    BU846396 BQ944604 BE266734 BQ064073 BQ945393 BM728101 BU844423 BU854901 
    BQ642972 BX280793 BU553490 BQ065795 BX457177 BQ440960 BQ425521 BQ432339 
    AI335866 CK826377 BQ061680 BQ055909 BU685183 BQ060739 BU789526 BQ056950 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF18 (see all 10)    About this scheme

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

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b
    SP1:                                            -                       -     -                     
    SP2:                                            -                                                   
    SP3:                                            -                       -     -                     
    SP4:                          -                 -                                                   
    SP5:                                                                                                


    ECgene alternative splicing isoforms for ARHGEF18

    (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

    ARHGEF18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTTAGTCA
    ARHGEF18 Expression
    About this image


    See ARHGEF18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF18

    SOURCE GeneReport for Unigene cluster: Hs.465761

    UniProtKB/Swiss-Prot: ARHGI_HUMAN, Q6ZSZ5
    Tissue specificity: Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not
    expressed in liver, skeletal muscle and testis

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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)
    About This Section

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

    Orthologs for ARHGEF18 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef181 , 5 rho/rac guanine nucleotide exchange factor (GEF) 181, 5 81.78(n)1
    81.65(a)1
      8 (1.92 cM)5
    1020981  NM_133962.31  NP_598723.31 
     33930065 
    chicken
    (Gallus gallus)
    Aves ARHGEF181 rho/rac guanine nucleotide exchange factor (GEF) 18 66.05(n)
    65.46(a)
      420132  XM_418249.3  XP_418249.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    AAWZ02038767(5014-8844)
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef18b1 rho/rac guanine nucleotide exchange factor (GEF) 18b 60.03(n)
    54.85(a)
      562264  XM_685658.5  XP_690750.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101886
    --
    17(a)
    1 → many
    2L(19502335-19508760)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROM26
    ROM16
    GDP/GTP exchange factor (GEF) for Rho1p and Rho2p;...
    GDP/GTP exchange protein (GEP) for Rho1p; mutation...
    9(a)
    11(a)
    many ↔ many
    many ↔ many
    XII(862714-866784)
    VII(627806-631273)


    ENSEMBL Gene Tree for ARHGEF18 (if available)
    TreeFam Gene Tree for ARHGEF18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF18 gene
    ARHGEF22  ARHGEF122  ARHGEF112  AKAP132  ARHGEF282  ARHGEF12  ENSG000002688612  
    4 SIMAP similar genes for ARHGEF18 using alignment to 3 protein entries:     ARHGI_HUMAN (see all proteins):
    AKAP13    ARHGEF28    ARHGEF2    ARHGEF1

    ARHGEF18 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2442 SNPs in ARHGEF18 are shown (see all 2442)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1839570101,2
    C--7458021(+) AACCAC/TTGAGC 1 -- us2k10--------
    rs603358981,2
    C,F--7458125(+) AACATG/ACTCCC 1 -- us2k11Minor allele frequency- A:0.16EA 120
    rs1893591071,2
    --7458301(+) GTTTCC/TCAGGC 1 -- us2k10--------
    rs129767431,2
    C,F--7458326(+) CTGGAC/TTCAAG 1 -- us2k18Minor allele frequency- T:0.35NA WA CSA EA 368
    rs761903851,2
    C,F--7458333(+) CAAGTG/AATCCT 1 -- us2k13Minor allele frequency- A:0.06NA EA 242
    rs1822440341,2
    --7458356(+) TCCCAA/GAGTGT 1 -- us2k10--------
    rs1875000621,2
    --7458526(+) GGGGTA/GTCTGA 1 -- us2k10--------
    rs1918789411,2
    --7458559(+) GCTGGA/GGGAAG 1 -- us2k10--------
    rs1386774431,2
    --7458824(+) TCTATA/GTTGGG 1 -- us2k10--------
    rs1815663361,2
    --7458850(+) GGAGAA/GGTATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARHGEF18 (7459999 - 7537371 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for ARHGEF18 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718093CNV Deletion23290073
    esv2718091CNV Deletion23290073
    dgv541e201CNV Deletion23290073
    esv2659522CNV Deletion23128226
    nsv821186CNV Duplication20802225
    nsv509719CNV Insertion20534489
    esv22545CNV Loss19812545
    nsv910958CNV Loss21882294
    nsv910959CNV Loss21882294
    esv28715CNV Loss19812545

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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
    2 diseases for ARHGEF18:    About MalaCards
    mucolipidosis    

    1 disease from the University of Copenhagen DISEASES database for ARHGEF18:
    Mucolipidosis

    ARHGEF18 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ARHGEF18 (1 document)

    Export disorders for ARHGEF18 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 ARHGEF18 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with ARHGEF18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. (PubMed id 11318610)1, 2, 3 Acierno J.S. Jr....Slaugenhaupt S.A. (2001)
    2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
    3. G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production. (PubMed id 14512443)1, 2, 9 Niu J.... Voyno-Yasenetskaya T. (2003)
    4. Identification and characterization of a novel Rho-specific guanine nucleotide exchange factor. (PubMed id 11085924)1, 2 Blomquist A.... Ruemenapp U. (2000)
    5. LKB1 controls human bronchial epithelial morphogenesis through p114RhoGEF-dependent RhoA activation. (PubMed id 23648482)1 Xu X....Hall A. (2013)
    6. Stimulation of cortical myosin phosphorylation by p114 RhoGEF drives cell migration and tumor cell invasion. (PubMed id 23185572)1 Terry S.J....Matter K. (2012)
    7. Lulu2 regulates the circumferential actomyosin tensil e system in epithelial cells through p114RhoGEF. (PubMed id 22006950)1 Nakajima H. and Tanoue T. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Spatially restricted activation of RhoA signalling at epithelial junctions by p114RhoGEF drives junction formation and morphogenesis . (PubMed id 21258369)1 Terry S.J....Matter K. (2011)
    10. Replication of previous genome-wide association studi es of bone mineral density in premenopausal American women. (PubMed id 20200978)1 Ichikawa S....Econs M.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23370 HGNC: 17090 AceView: ARHGEF18 Ensembl:ENSG00000104880 euGenes: HUgn23370
    ECgene: ARHGEF18 H-InvDB: ARHGEF18

    (According to HUGE)
    About This Section
    HUGE: KIAA0521

    (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 ARHGEF18 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARHGEF18 gene:
    Search GeneIP for patents involving ARHGEF18

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



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