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ARHGEF19 Gene

protein-coding   GIFtS: 50
GCID: GC01M016524

Rho Guanine Nucleotide Exchange Factor (GEF) 19

  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 Guanine Nucleotide Exchange Factor (GEF) 191 2
WGEF2 5
ephexin-22
Rho Guanine Nucleotide Exchange Factor 192
Weakly Similar To Rho GEF2
Ephexin-23

External Ids:    HGNC: 266041   Entrez Gene: 1282722   Ensembl: ENSG000001426327   OMIM: 6124965   UniProtKB: Q8IW933   

Export aliases for ARHGEF19 gene to outside databases

Previous GC identifers: GC01M015908 GC01M016273 GC01M016397 GC01M015042


(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 ARHGEF19 Gene:
Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see
RHOA, MIM 165390).(supplied by OMIM, Dec 2008)

GeneCards Summary for ARHGEF19 Gene:
ARHGEF19 (Rho guanine nucleotide exchange factor (GEF) 19) is a protein-coding gene. Diseases associated with ARHGEF19 include blepharitis, and hiv-1. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF15.

UniProtKB/Swiss-Prot: ARHGJ_HUMAN, Q8IW93
Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARHGEF19 gene promoter:
         AhR   MyoD   NF-kappaB   GATA-1   AREB6   MZF-1   NF-kappaB2   AP-2beta   AP-2alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGEF19 promoter sequence
   Search Chromatin IP Primers for ARHGEF19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARHGEF19


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

ARHGEF19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M016524:  view genomic region     (about GC identifiers)

Start:
16,524,349 bp from pter      End:
16,539,104 bp from pter
Size:
14,756 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, 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: ARHGJ_HUMAN, Q8IW93 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 19  
Size: 802 amino acids; 89197 Da
Secondary accessions: A6NJ04 Q5TEV2 Q6PJQ4 Q8N244
Alternative splicing: 2 isoforms:  Q8IW93-1   Q8IW93-2   

Explore the universe of human proteins at neXtProt for ARHGEF19: NX_Q8IW93

Explore proteomics data for ARHGEF19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARHGEF19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694945.2  
    ENSEMBL proteins: 
     ENSP00000270747   ENSP00000391145   ENSP00000414370  

    ARHGEF19 Human Recombinant Protein Products:

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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:
    ARHGEF: Rho guanine nucleotide exchange factors

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q8IW93

    ProtoNet protein and cluster: Q8IW93

    4 Blocks protein domains:
    IPB000219 DH domain
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: ARHGJ_HUMAN, Q8IW93
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    ARHGEF19 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: ARHGJ_HUMAN, Q8IW93
    Function: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI18256687
         
    ARHGEF19 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARHGEF19:
     Decreased p24 protein expressi  Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARHGEF19
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    cytoskeleton1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGEF19
    Interactions:

        Search GeneGlobe Interaction Network for ARHGEF19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ARHGEF19 (Q8IW931, 2, 3 ENSP000002707474) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615861, 2, 3, ENSP000004001754EBI-7799822,EBI-446668 MINT-6504336 MINT-6504258 I2D: score=1 STRING: ENSP00000400175
    DAAM1Q9Y4D12, 3, ENSP000002471704MINT-6504351 I2D: score=1 STRING: ENSP00000247170
    DVL1O146402, 3, ENSP000003681694MINT-6504080 I2D: score=1 STRING: ENSP00000368169
    RAC1P630002, 3, ENSP000003484614MINT-6504167 I2D: score=1 STRING: ENSP00000348461
    PIH1D1Q9NWS03I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032321positive regulation of Rho GTPase activity IEA--
    GO:0032956regulation of actin cytoskeleton organization IGI--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0042060wound healing IEA--

    ARHGEF19 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 ARHGEF19 (ARHGJ)



    (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 ARHGEF19 gene: 
    NM_153213.3  

    Unigene Cluster for ARHGEF19:

    Rho guanine nucleotide exchange factor (GEF) 19
    Hs.591532  [show with all ESTs]
    Unigene Representative Sequence: BC040640
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478117 ENST00000270747(uc009voo.1 uc001ayc.1) ENST00000449495
    ENST00000478210 ENST00000471928 ENST00000441785
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ARHGEF19

    Additional mRNA sequence: 

    AF088037.1 AK091281.1 AK297707.1 AL137736.1 BC012982.2 BC040640.1 

    6 DOTS entries:

    DT.100776392  DT.40271418  DT.100775521  DT.92424352  DT.100000684  DT.100776390 

    Selected AceView cDNA sequences (see all 112):

    CR606355 BX095080 BU931591 AL137736 BQ947107 BC040640 CR621382 BF512107 
    CA394564 BU956545 CR625309 BX374971 BP872471 AF088037 BQ081911 BQ021844 
    NM_153213 AW873718 BU849972 BU849630 AI199415 BC012982 BQ081901 BQ653289 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF19 (see all 14)    About this scheme

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

    ExUns: 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
    SP1:        -                                       
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ARHGEF19

    (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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    ARHGEF19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTGAAAA
    ARHGEF19 Expression
    About this image

    ARHGEF19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARHGEF19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591532
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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 ARHGEF19 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef191 , 5 Rho guanine nucleotide exchange factor (GEF) 191, 5 83.06(n)1
    85.07(a)1
      4 (73.53 cM)5
    2136491  NM_172520.21  NP_766108.11 
     1412394995 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985222 hypothetical protein LOC398522 77.34(n)    BC045251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef191 Rho guanine nucleotide exchange factor (GEF) 19 63.94(n)
    66.89(a)
      569202  XM_005162208.1  XP_005162265.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Exn6
    Ephexin
    10(a)
    1 → many
    3L(16963113-16987488)
    worm
    (Caenorhabditis elegans)
    Secernentea ephx-16
    Protein EPHX-1, isoform a
    17(a)
    1 → many
    II(4004889-4016077) WBGene00019487


    ENSEMBL Gene Tree for ARHGEF19 (if available)
    TreeFam Gene Tree for ARHGEF19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARHGEF19 gene
    ARHGEF152  ARHGEF162  NGEF2  ARHGEF52  ARHGEF262  
    6 SIMAP similar genes for ARHGEF19 using alignment to 3 protein entries:     ARHGJ_HUMAN (see all proteins):
    LOC728377    ARHGEF5    ARHGEF16    NGEF    ARHGEF15    DKFZp686N1969

    ARHGEF19 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 ARHGEF19 (see all 457)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1869963681,2
    C--16524169(+) GCCACC/GAGCAG 1 -- int10--------
    rs112609351,2
    C,F--16524211(+) AGCCCC/TGGGAG 1 -- int16Minor allele frequency- T:0.33NA WA CSA 128
    rs1158897891,2
    C--16524528(+) GACTCT/CCCTGG 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1498252201,2
    C--16524590(+) CACAGA/TCTCCA 1 -- int10--------
    rs2210301,2
    C,F,O,A,H--16524653(+) CACTCA/GGGCTC 1 -- ut31 ese326Minor allele frequency- G:0.21MN NA NS EA WA 2672
    rs1458493361,2
    C--16524737(+) AGAACA/GTTCCC 1 -- ut310--------
    rs1903063131,2
    --16524778(+) TCAGGA/CAGGAT 1 -- ut310--------
    rs1407375901,2
    --16524811(+) CCCCAA/GTCTTT 1 -- ut310--------
    rs1124932991,2
    C--16524858(+) TCAGAG/AGAAGA 1 -- ut312Minor allele frequency- A:0.04CSA WA 119
    rs2210311,2
    C,F,O,A,H--16524869(+) AACTAT/CCCTTG 1 -- ut3126Minor allele frequency- C:0.21MN EA NA NS WA CSA 2747

    HapMap Linkage Disequilibrium report for ARHGEF19 (16524349 - 16539104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ARHGEF19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871825CNV Loss21882294
    nsv470699CNV Loss18288195
    nsv833869CNV Loss17160897
    dgv174n71CNV Loss21882294
    nsv524045CNV Loss19592680
    nsv870978CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ARHGEF19
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612496    OMIM disorders: --

    2 diseases for ARHGEF19:    
    About MalaCards
    blepharitis    hiv-1

    1 disease from the University of Copenhagen DISEASES database for ARHGEF19:
    Blepharitis

    ARHGEF19 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARHGEF19
    Human Genome Epidemiology (HuGE) Navigator: ARHGEF19 (1 document)

    Export disorders for ARHGEF19 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 ARHGEF19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ARHGEF19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
    5. WGEF activates Rho in the Wnt-PCP pathway and controls convergent extension in Xenopus gastrulation. (PubMed id 18256687)1 Tanegashima K....Dawid I.B. (EMBO J. 2008)
    6. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. WGEF is a novel RhoGEF expressed in intestine, liver, heart, and kidney. (PubMed id 15485661)1 Wang Y....Yamada N. (Biochem. Biophys. Res. Commun. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
    PubMed
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    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: 128272 HGNC: 26604 AceView: ARHGEF19 Ensembl:ENSG00000142632 euGenes: HUgn128272
    ECgene: ARHGEF19 H-InvDB: ARHGEF19

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARHGEF19 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 ARHGEF19 gene:
    Search GeneIP for patents involving ARHGEF19

    GeneCards and IP:
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