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

ARHGEF7 Gene

protein-coding   GIFtS: 68
GCID: GC13P111766

Rho Guanine Nucleotide Exchange Factor (GEF) 7

  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
Rho Guanine Nucleotide Exchange Factor (GEF) 71 2     P502
PAK-Interacting Exchange Factor Beta1 2 3     P50BP2
COOL12 3 5     P852
PIXB2 3 5     P85COOL12
Guanine Nucleotide Exchange Factor 71 2     PAK32
SH3 Domain-Containing Proline-Rich Protein1 2     Rho Guanine Nucleotide Exchange Factor 72
COOL-12 3     Beta-Pix3
P85SPR2 3     KIAA01423
rho1     PAK3BP3
BETA-PIX2     p853
Nbla103142     

External Ids:    HGNC: 156071   Entrez Gene: 88742   Ensembl: ENSG000001026067   OMIM: 6054775   UniProtKB: Q141553   

Export aliases for ARHGEF7 gene to outside databases

Previous GC identifers: GC13P110166 GC13P106154 GC13P110604 GC13P109465 GC13P110565 GC13P092335


(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 ARHGEF7 Gene:
Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work
through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that
activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small
GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce
membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been
described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ARHGEF7 Gene: 
ARHGEF7 (Rho guanine nucleotide exchange factor (GEF) 7) is a protein-coding gene. Diseases associated with ARHGEF7 include borjeson-forssman-lehmann syndrome, and non-specific x-linked mental retardation, and among its related super-pathways are Regulation of actin cytoskeleton and Ras Pathway. GO annotations related to this gene include phospholipid binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.

UniProtKB/Swiss-Prot: ARHG7_HUMAN, Q14155
Function: Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in
cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May
function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade,
promotes the formation of spines and synapses in hippocampal neurons

Gene Wiki entry for ARHGEF7 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_000013.10  NT_009952.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARHGEF7 gene promoter:
         FOXF2   p53   AML1a   SREBP-1c   Pax-2   Pax-2a   AP-4   SREBP-1b   SREBP-1a   Pax-2b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARHGEF7 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARHGEF7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF7


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q33.3

ARHGEF7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF7 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P111766:  view genomic region     (about GC identifiers)

Start:
111,766,906 bp from pter      End:
111,958,084 bp from pter
Size:
191,179 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: ARHG7_HUMAN, Q14155 (See protein sequence)
Recommended Name: Rho guanine nucleotide exchange factor 7  
Size: 803 amino acids; 90012 Da
Subunit: Interacts with PAK kinases through the SH3 domain. Interacts with GIT1 and TGFB1I1. Interacts with
PTK2/FAK1 and RAC1. Interacts with ITCH and PARVB (By similarity). Interacts with unphosphorylated PAK1.
Interacts with SCRIB; interaction is direct and may play a role in regulation of apoptosis. Interacts with FRMPD4
(via N-terminus). Interacts with CaMK1. Interacts with BIN2. Isoform 1 and isoform 5 interact with SNX27
Subcellular location: Cell junction, focal adhesion (By similarity). Cell projection, ruffle (By similarity).
Cytoplasm, cell cortex (By similarity). Cell projection, lamellipodium (By similarity). Note=Detected at cell
adhesions. A small proportion is detected at focal adhesions
Sequence caution: Sequence=AAH50521.1; Type=Erroneous initiation; Sequence=BAA09763.2; Type=Erroneous initiation;
Sequence=CAD38906.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for ARHGEF7:
1BY1 (3D)        1ZSG (3D)        2L3G (3D)    
Secondary accessions: B1ALK6 B1ALK8 Q3LIA4 Q5W9H0 Q6P9G3 Q6PII2 Q86W63 Q8N3M1
Alternative splicing: 6 isoforms:  Q14155-4   Q14155-1   Q14155-2   Q14155-3   Q14155-5   Q14155-6   (Contains a phosphoserine at position 645. Contains a phosphoserine at position 664)

Explore the universe of human proteins at neXtProt for ARHGEF7: NX_Q14155

Explore proteomics data for ARHGEF7 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by PTK2/FAK1; this promotes interaction with RAC1 (By similarity). Phosphorylated on Ser-694 by
    CaMK1; enhancement of GEF activity and downstream activation of RAC1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14155

  • ARHGEF7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARHGEF7 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001106983.1  NP_001106984.1  NP_001106985.1  NP_003890.1  NP_663788.1  

    ENSEMBL proteins: 
     ENSP00000325994   ENSP00000406732   ENSP00000418043   ENSP00000418067   ENSP00000418235  
     ENSP00000218789   ENSP00000364888   ENSP00000420592   ENSP00000397068   ENSP00000389890  
     ENSP00000364875   ENSP00000417596   ENSP00000359657   ENSP00000364893   ENSP00000364891  
     ENSP00000364889   ENSP00000445384  
    Reactome Protein details: Q14155
    Human Recombinant Protein Products for ARHGEF7: 
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    Cloud-Clone Corp. Proteins for ARHGEF7 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005925focal adhesion IEA--
    GO:0005938cell cortex IEA--

    ARHGEF7 for ontologies           About GeneDecksing



    ARHGEF7 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

    5/7 InterPro protein domains (see all 7):
     IPR011511 SH3_2
     IPR001331 GDS_CDC24_CS
     IPR001715 CH-domain
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q14155

    ProtoNet protein and cluster: Q14155

    4 Blocks protein domains:
    IPB000219 DH domain
    IPB001452 SH3 domain signature
    IPB001715 Calponin-like actin-binding
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ARHG7_HUMAN, Q14155
    Similarity: Contains 1 CH (calponin-homology) domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    ARHGEF7 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: ARHG7_HUMAN, Q14155
    Function: Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in
    cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May
    function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade,
    promotes the formation of spines and synapses in hippocampal neurons

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI11864573
    GO:0005543phospholipid binding IEA--
    GO:0019901protein kinase binding IPI--
         
    ARHGEF7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ARHGEF7:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARHGEF7 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARHGEF7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARHGEF7 

    miRNA
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    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate ARHGEF7 (see all 112):
    hsa-miR-323-3p hsa-miR-582-3p hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-3074-3p hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ARHGEF7 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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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 ARHGEF7 About   (see all 37)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2GPCR Pathway
    Ras Pathway0.73
    Pancreatic Adenocarcinoma0.59
    Paxillin Interactions0.73
    Breast Cancer Regulation by Stathmin10.58
    GPCR Pathway0.62
    3Cell 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
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    5Signaling by FGFR
    Signaling by EGFR0.84
    Signalling by NGF0.71
    Signaling by EGFR in Cancer0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for ARHGEF7
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Development Beta-adrenergic receptors signaling via cAMP
    Development A2A receptor signaling
    Development A2B receptor- action via G-protein alpha s

    5/26 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARHGEF7 (see all 26)
        RhoA Pathway
    Paxillin Interactions
    Guidance Cues and Growth Cone Motility
    Molecular Mechanisms of Cancer
    Interferon Pathway

    2 Cell Signaling Technology (CST) Pathways for ARHGEF7
        Cytoskeletal Signaling
    Adhesion

    4 GeneGo (Thomson Reuters) Pathways for ARHGEF7
        Development A2A receptor signaling
    Development A2B receptor- action via G-protein alpha s
    Development Beta-adrenergic receptors signaling via cAMP
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    5/9 BioSystems Pathways for ARHGEF7 (see all 9)
        Integrin-mediated cell adhesion
    Regulation of Actin Cytoskeleton
    CDC42 signaling events
    Internalization of ErbB1
    Class I PI3K signaling events

    5/14        Reactome Pathways for ARHGEF7 (see all 14)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by EGFR in Cancer


    1         Kegg Pathway  (Kegg details for ARHGEF7):
        Regulation of actin cytoskeleton


    ARHGEF7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARHGEF7

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

    5/122 Interacting proteins for ARHGEF7 (Q141551, 2, 3 ENSP000003648934) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCRIBQ141602, 3, ENSP000003494864MINT-62243 MINT-62246 MINT-7210759 MINT-62247 MINT-8114729 MINT-62244 MINT-62254 MINT-62250 MINT-7210792 I2D: score=4 STRING: ENSP00000349486
    CBLP226812, 3, ENSP000002640334MINT-7211968 MINT-7211987 MINT-7211918 MINT-7211864 MINT-7211952 MINT-7212521 MINT-7211842 MINT-7211850 MINT-7212004 I2D: score=2 STRING: ENSP00000264033
    GIT1Q9Y2X71, 2, 3, ENSP000003783384EBI-717515,EBI-466061 MINT-7147308 MINT-7147263 MINT-1953491 I2D: score=6 STRING: ENSP00000378338
    PAK1Q131532, 3, ENSP000002785684MINT-7145222 MINT-7212681 MINT-7211931 MINT-1953612 MINT-7212697 I2D: score=11 STRING: ENSP00000278568
    CBLBQ131912, 3, ENSP000002641224MINT-56630 MINT-56632 MINT-56631 I2D: score=3 STRING: ENSP00000264122
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS9659915
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007399nervous system development IEA--
    GO:0030032lamellipodium assembly ISS--

    ARHGEF7 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

    ARHGEF7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARHGEF7 (ARHG7)

    3 HMDB Compounds for ARHGEF7    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--

    10/11 Novoseek inferred chemical compound relationships for ARHGEF7 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 76.8 40 1312663 (4), 7692230 (2), 8567177 (2), 1317864 (2) (see all 24)
    tyrosine 59.2 25 7692230 (3), 7504303 (2), 8918697 (2), 17093062 (2) (see all 17)
    phosphotyrosine 55 2 8391166 (1), 8265614 (1)
    wortmannin 54.7 1 11438654 (1)
    phosphoinositide 49.6 2 9642280 (1), 15679846 (1)
    gtp 35.8 1 17652093 (1)
    nadph 17.9 10 16329988 (2), 20167927 (2), 15121857 (1), 14688330 (1)
    leucine 10.1 2 12626503 (1), 11278242 (1)
    glucose 0 3 1768652 (1), 17259384 (1)
    serine 0 1 11096073 (1)

    Search CenterWatch for drugs/clinical trials and news about ARHGEF7 / ARHG7

    (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,
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    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 ARHGEF7 gene (5 alternative transcripts): 
    NM_001113511.1  NM_001113512.1  NM_001113513.1  NM_003899.3  NM_145735.2  

    Unigene Cluster for ARHGEF7:

    Rho guanine nucleotide exchange factor (GEF) 7
    Hs.508738  [show with all ESTs]
    Unigene Representative Sequence: BX648030
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000483540 ENST00000317133 ENST00000422836 ENST00000449979 ENST00000491775
    ENST00000466143 ENST00000469877 ENST00000218789(uc001vrv.4 uc001vrw.4)
    ENST00000375736 ENST00000467053 ENST00000426073(uc001vrx.4 uc010tjo.2)
    ENST00000426768 ENST00000375723 ENST00000483189(uc010agn.1) ENST00000478679
    ENST00000491688 ENST00000370623 ENST00000375741(uc001vrs.2 uc001vrr.2)

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    Additional mRNA sequence: 

    AB075521.1 AB177848.1 AB177849.1 AJ844629.1 AJ844630.1 AJ844631.1 AJ844632.1 AJ844633.1 
    AK055476.1 AK093326.1 AK095058.1 AK295472.1 AK300157.1 AK300272.1 AK308897.1 AL831814.1 
    AL834228.1 BC033905.1 BC050521.1 BC060776.1 BX648030.1 BX648314.1 D63476.1 

    24/27 DOTS entries (see all 27):

    DT.317598  DT.101963903  DT.120770366  DT.91875174  DT.120770358  DT.100028266  DT.40123024  DT.454809 
    DT.100691475  DT.105651  DT.120770369  DT.99964771  DT.75124505  DT.120770311  DT.95289815  DT.120770288 
    DT.120770339  DT.92431352  DT.95361009  DT.100672880  DT.120770380  DT.120770385  DT.86838072  DT.91669283 

    24/272 AceView cDNA sequences (see all 272):

    BC060776 BC050521 AA968762 AA527273 BM719607 AI380374 CR615661 AA354483 
    CR618781 BM682904 NM_145735 AA987974 BM677392 AW139757 BF436811 AA448037 
    BE550895 BM826514 AI671644 T08407 BM930916 AI697674 AA448633 AL834228 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF7 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                    -     -     -     -     -                 -     -           -     -     -                                                               
    SP2:                                                        -     -     -           -     -     -                                                               
    SP3:                                                                    -           -     -     -                                                               
    SP4:                    -     -     -     -     -           -     -     -           -     -     -                                                               
    SP5:                    -     -     -     -     -     -     -     -     -           -     -     -                                                               

    ExUns: 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
    SP1:              -     -           -                                             
    SP2:              -     -           -                 -                           
    SP3:              -     -           -                 -                           
    SP4:              -     -           -                                             
    SP5:              -     -           -                                             


    ECgene alternative splicing isoforms for ARHGEF7

    (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

    ARHGEF7 expression in normal human tissues (normalized intensities)      ARHGEF7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGGGCGT
    ARHGEF7 Expression
    About this image


    ARHGEF7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Septum   

     -- (Endocrine System)
             Pituitary gland   

    See ARHGEF7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARHGEF7

    SOURCE GeneReport for Unigene cluster: Hs.508738
        SABiosciences Expression via Pathway-Focused PCR Array including ARHGEF7: 
              Cell Motility in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF7

    (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 ARHGEF7 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arhgef71 , 5 Rho guanine nucleotide exchange factor (GEF7)1, 5 87.13(n)1
    94.5(a)1
      8 (5.73 cM)5
    541261  NM_001113517.11  NP_001106989.11 
     117281055 
    chicken
    (Gallus gallus)
    Aves ARHGEF71 Rho guanine nucleotide exchange factor (GEF) 7 83.35(n)
    93.64(a)
      418761  XM_003640531.1  XP_003640579.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARHGEF76
    Uncharacterized protein
    82(a)
    1 ↔ 1
    3(104649861-104784981)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480117882   -- 77.09(n)    48011788 
    zebrafish
    (Danio rerio)
    Actinopterygii arhgef7a1 Rho guanine nucleotide exchange factor (GEF) 7a 71.28(n)
    77.42(a)
      553493  NM_001123235.1  NP_001116707.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rtGEF3 guanyl-nucleotide exchange factor 45(a)   38C5   --
    worm
    (Caenorhabditis elegans)
    Secernentea K11E4.43
    pix-11
    Src homology domain 33
    Protein PIX-11
    26(a)3
    44.56(n)1
    32.08(a)1
      X(13759889-13768646)3
    1814901  NM_077896.31  NP_510297.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC246
    Guanine nucleotide exchange factor (GEF or GDP-rel...
    12(a)
    1 → many
    I(62840-65404)


    ENSEMBL Gene Tree for ARHGEF7 (if available)
    TreeFam Gene Tree for ARHGEF7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARHGEF7 gene
    ARHGEF62  VAV12  PLEKHG22  PLEKHG32  PREX22  TIAM12  SPATA132  TIAM22  
    ARHGEF92  VAV32  VAV22  ARHGEF42  PREX12  PLEKHG12  
    18/75 SIMAP similar genes for ARHGEF7 using alignment to 13 protein entries:     ARHG7_HUMAN (see all proteins) (see all similar genes):
    KIAA0142    SHANK3    ARHGEF6    VAV1    GRB2    NCF1B
    NCF1C    SH3KBP1    VAV3    ABI-2    ABI2    SHANK1
    GRAPL    PLCG1 variant protein    GRAP    NOSTRIN    ITSN1    LASP1

    ARHGEF7 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

    10/4712 SNPs in ARHGEF7 are shown (see all 4712)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0646944
    ----see VAR_0646942 T A mis40--------
    rs1421403611,2
    --92333262(+) TACCAC/TAGGCC 3 -- int10--------
    rs64923421,2
    C,F,A--92333334(+) aacatG/Agattg 3 -- int12Minor allele frequency- A:0.12WA 120
    rs1463472251,2
    C--92333338(+) TGGATG/TGCCAT 3 -- int10--------
    rs1901345081,2
    --92333344(+) GCCATA/GTCCAC 3 -- int10--------
    rs755876501,2
    C,F--92333448(+) TGGAAG/ATCACC 3 -- int11Minor allele frequency- A:0.02NA 120
    rs1834227081,2
    --92333606(+) ACAGAA/GAAGAA 3 -- int10--------
    rs784026871,2
    C,F--92333614(+) GAAAAG/TCTCCC 3 -- int11Minor allele frequency- T:0.05EA 120
    rs95153691,2
    C,F--92333679(+) cttgcG/Aggggg 3 -- int18Minor allele frequency- A:0.35NA CSA WA EA 368
    rs1883566381,2
    --92333721(+) AGCAGA/TGTGAG 3 -- int10--------

    HapMap Linkage Disequilibrium report for ARHGEF7 (111766906 - 111958084 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for ARHGEF7 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748054CNV Deletion23290073
    esv2748058CNV Deletion23290073
    dgv269e201CNV Deletion23290073
    esv2748059CNV Deletion23290073
    esv2748057CNV Deletion23290073
    esv2748056CNV Deletion23290073
    esv2748055CNV Deletion23290073
    esv2748050CNV Deletion23290073
    dgv268e201CNV Deletion23290073
    esv1576482CNV Deletion17803354


    Human Gene Mutation Database (HGMD): ARHGEF7
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605477    OMIM disorders: --

    18 diseases for ARHGEF7:    About MalaCards
    borjeson-forssman-lehmann syndrome    non-specific x-linked mental retardation    wiskott-aldrich syndrome    adult t-cell leukemia
    intellectual disability    mental retardation    t-cell leukemia    insulin resistance
    renal cell carcinoma    neuroblastoma    squamous cell carcinoma    endotheliitis
    adenocarcinoma    lung cancer    leukemia    pancreatitis
    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ARHGEF7:
    Intellectual disability

    ARHGEF7 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ARHGEF7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 55.5 5 17317956 (1), 12810981 (1), 15800193 (1), 11017088 (1) (see all 5)
    tumors 0 1 11502199 (1)

    Genetic Association Database (GAD): ARHGEF7

    Export disorders for ARHGEF7 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 ARHGEF7 gene, integrated from 9 sources (see all 197):
    (articles sorted by number of sources associating them with ARHGEF7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel regulator of p21-activated kinases. (PubMed id 9726964)1, 2, 3 Bagrodia S....Cerione R.A. (1998)
    2. Mammalian Scribble forms a tight complex with the betaPIX exchange factor. (PubMed id 15182672)1, 2, 9 Audebert S.... Borg J.-P. (2004)
    3. Sorting nexin 27 protein regulates trafficking of a p 21-activated kinase (PAK) interacting exchange factor (I^-Pix)-G protein-coupled receptor kinase interacting protein (GIT) complex via a PDZ domain interaction . (PubMed id 21926430)1, 2 Valdes J.L....Playford M.P. (2011)
    4. Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)1, 4 Johnson A.D....Witteman J.C. (2009)
    5. Loci at chromosomes 13, 19 and 20 influence age at na tural menopause. (PubMed id 19448619)1, 4 Stolk L....Uitterlinden A.G. (2009)
    6. Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PubMed id 19118189)1, 2 Lee H.W....Kim E. (2008)
    7. Deregulation of scribble promotes mammary tumorigenesis and reveals a role for cell polarity in carcinoma. (PubMed id 19041750)1, 2 Zhan L....Muthuswamy S.K. (2008)
    8. Structural analysis of the SH3 domain of beta-PIX and its interaction with alpha-p21 activated kinase (PAK). (PubMed id 16101281)1, 2 Mott H.R.... Owen D. (2005)
    9. Alternative splice variants encoding unstable protein domains exist in the human brain. (PubMed id 15491607)1, 2 Homma K.... Nishikawa K. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 8874 HGNC: 15607 AceView: ARHGEF7 Ensembl:ENSG00000102606 euGenes: HUgn8874
    ECgene: ARHGEF7 Kegg: 8874 H-InvDB: ARHGEF7

    (According to HUGE)
    About This Section
    HUGE: KIAA0142

    (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 ARHGEF7 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 ARHGEF7 gene:
    Search GeneIP for patents involving ARHGEF7

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



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    About This Section

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