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

ARHGEF19 Gene

protein-coding   GIFtS: 50
GCID: GC01M016524

Rho guanine nucleotide exchange factor (GEF) 19

 Explore 1 disease affiliated with
ARHGEF19 via our new
 Human Malady Compendium 
Biological research products
for ARHGEF19
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Rho Guanine Nucleotide Exchange Factor (GEF) 191 2     Rho Guanine Nucleotide Exchange Factor 192
WGEF1 2 5     Weakly Similar To Rho GEF2
FLJ339621     Ephexin-23
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ARHGEF19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
16,539,140 bp from pter
Size:
14,792 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IW93

  • ARHGEF19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_694945.2  
    ENSEMBL proteins: 
     ENSP00000270747   ENSP00000396001   ENSP00000391145   ENSP00000414370  

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    Uscn Proteins for ARHGEF19

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    ARHGEF19 for ontologies           About GeneDecksing



    ARHGEF19 Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ARHGEF19 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005096GTPase activator activity IEA--
    GO:0005543phospholipid binding IEA--


    ARHGEF19 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARHGEF19

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

    5/6 Interacting proteins for ARHGEF19 (Q8IW932, 3 ENSP000002707474) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615862, 3, ENSP000004001754MINT-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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARHGEF19
    Search CenterWatch for drugs/clinical trials and news about ARHGEF19 / ARHGJ 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478117 ENST00000270747(uc009voo.1 uc001ayc.1) ENST00000421561
    ENST00000449495 ENST00000478210 ENST00000471928 ENST00000441785

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    Additional cDNA 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 

    24/112 AceView cDNA sequences (see all 112):

    BU849972 BQ653289 BQ081911 BQ021844 NM_153213 BQ947107 BQ081901 AI199415 
    BC012982 BU956545 BX374971 CR625309 BU931591 CR621382 CR606355 AF088037 
    BX095080 AL137736 BP872471 BU849630 BF512107 CA394564 BE383118 BC040640 

    GeneLoc Exon Structure

    5/14 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™, 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

    ARHGEF19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTTGAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ARHGEF19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF19

    SOURCE GeneReport for Unigene cluster: Hs.591532
        SABiosciences Custom PCR Arrays for ARHGEF19
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    In Situ
    Assay Products:
     

     
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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.

    Orthologs for ARHGEF19 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 60.85(n)
    62.97(a)
      569202  XM_692570.5  XP_697662.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Exn6
    Ephexin
    9(a)
    1 → many
    3L(16963113-16987488)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2186
    Temporarily Assigned Gene name family member (tag-...
    16(a)
    1 → many
    II(4004892-4016080)


    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)
    About This Section
    Paralogs for ARHGEF19 gene
    ARHGEF152  ARHGEF162  NGEF2  ARHGEF262  ARHGEF52  
    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, UniProtKB, 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

    10/344 NCBI SNPs in ARHGEF19 are shown (see all 344    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1869963681,2
    --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/CCNNNN 1 -- int11Minor allele frequency- C:0.01NA 120
    rs1498252201,2
    --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
    --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 - 16539140 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ARHGEF19: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARHGEF19
    DNA2.0 Custom Variant and Variant Library Synthesis for ARHGEF19

    (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.)
    About This Section

    ARHGEF19 for disorders           About GeneDecksing

    OMIM gene information: 612496    OMIM disorders: --

    1 disease for ARHGEF19:    About MalaCards
    blepharitis

    1 disease from the University of Copenhagen DISEASES database for ARHGEF19:
    Blepharitis
    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)
    About This Section

    PubMed articles for ARHGEF19 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ARHGEF19)
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    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2002)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    5. WGEF is a novel RhoGEF expressed in intestine, liver, heart, and kidney. (PubMed id 15485661)1 Wang Y....Yamada N. (2004)
    6. 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. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 128272 HGNC: 26604 AceView: ARHGEF19 Ensembl:ENSG00000142632 euGenes: HUgn128272
    ECgene: ARHGEF19 H-InvDB: ARHGEF19

    (According to HUGE)
    About This Section
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    (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 ARHGEF19 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 ARHGEF19 gene:
    Search GeneIP for patents involving ARHGEF19

    GeneCards and IP:
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