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

CDC42EP5 Gene

protein-coding   GIFtS: 50
GCID: GC19M054976

CDC42 Effector Protein (Rho GTPase Binding) 5

  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
CDC42 Effector Protein (Rho GTPase Binding) 51 2
Binder Of Rho GTPases 32 3
CEP52 3
Borg32
Cdc42 Effector Protein 52
BORG33

External Ids:    HGNC: 174081   Entrez Gene: 1481702   Ensembl: ENSG000001676177   OMIM: 6091715   UniProtKB: Q6NZY73   

Export aliases for CDC42EP5 gene to outside databases

Previous GC identifers: GC19M055400 GC19M059652 GC19M059668 GC19M051301


(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 CDC42EP5 Gene:
Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing
structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a
member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB
(Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded
protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a
role in septin organization and inducing pseudopodia formation in fibroblasts (provided by RefSeq, Jul 2013)

GeneCards Summary for CDC42EP5 Gene: 
CDC42EP5 (CDC42 effector protein (Rho GTPase binding) 5) is a protein-coding gene. Diseases associated with CDC42EP5 include wolfram syndrome, and quadriplegia, and among its related super-pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include GTP-Rho binding. An important paralog of this gene is CDC42EP4.

UniProtKB/Swiss-Prot: BORG3_HUMAN, Q6NZY7
Function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce
actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits
MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by
CDC42 (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDC42EP5 gene promoter:
         Spz1   Pax-5   ATF-2   E47   CRE-BP1   CREB   Hand1   LyF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC42EP5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDC42EP5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDC42EP5


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

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

CDC42EP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC42EP5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M054976:  view genomic region     (about GC identifiers)

Start:
54,976,210 bp from pter      End:
54,984,422 bp from pter
Size:
8,213 bases      Orientation:
minus strand

2 alternative locations:
Chr19-,NW_003571060 369,718-377,930      Chr19-,NW_003571054 371,539-379,689     

(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: BORG3_HUMAN, Q6NZY7 (See protein sequence)
Recommended Name: Cdc42 effector protein 5  
Size: 148 amino acids; 15207 Da
Subunit: Interacts with CDC42, in a GTP-dependent manner, and with SEPT7 (By similarity)
Subcellular location: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm, cytoskeleton
(By similarity)
Secondary accessions: B0VJZ2 Q8TB51

Explore the universe of human proteins at neXtProt for CDC42EP5: NX_Q6NZY7

Explore proteomics data for CDC42EP5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NZY7

  • CDC42EP5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDC42EP5 Protein Expression
    REFSEQ proteins: NP_659494.2  
    ENSEMBL proteins: 
     ENSP00000301200  

    Human Recombinant Protein Products for CDC42EP5: 
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    Cloud-Clone Corp. Proteins for CDC42EP5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11035016
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IDA11035016

    CDC42EP5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000095 PAK_box_Rho-bd

    Graphical View of Domain Structure for InterPro Entry Q6NZY7

    ProtoNet protein and cluster: Q6NZY7

    UniProtKB/Swiss-Prot: BORG3_HUMAN, Q6NZY7
    Domain: The CRIB domain mediates interaction with CDC42 (By similarity)
    Similarity: Belongs to the BORG/CEP family
    Similarity: Contains 1 CRIB domain


    CDC42EP5 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: BORG3_HUMAN, Q6NZY7
    Function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce
    actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits
    MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by
    CDC42 (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0017049GTP-Rho binding IPI11035016
         
    CDC42EP5 for ontologies           About GeneDecksing


    Animal Models:
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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 CDC42EP5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    Rho Family GTPases0.61
    2Actin Nucleation by ARP-WASP Complex
    RhoA Pathway0.35

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDC42EP5
        RhoA Pathway
    Rho Family GTPases


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDC42EP5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CDC42EP5 (Q6NZY73 ENSP000003012004) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT7Q161813, ENSP000003819924I2D: score=1 STRING: ENSP00000381992
    CDC42P609533, ENSP000003144584I2D: score=4 STRING: ENSP00000314458
    CTNNB1P352223I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007254JNK cascade IEA--
    GO:0007266Rho protein signal transduction IEA--
    GO:0008360regulation of cell shape IDA11035016
    GO:0030838positive regulation of actin filament polymerization IDA11035016
    GO:0031274positive regulation of pseudopodium assembly IDA11035016

    CDC42EP5 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CDC42EP5 (BORG3)

    1 HMDB Compound for CDC42EP5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about CDC42EP5 / BORG3

    (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 CDC42EP5 gene: 
    NM_145057.3  

    Unigene Cluster for CDC42EP5:

    CDC42 effector protein (Rho GTPase binding) 5
    Hs.415791  [show with all ESTs]
    Unigene Representative Sequence: BM563708
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301200(uc002qfz.1) ENST00000472703
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDC42EP5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDC42EP5

    Additional mRNA sequence: 

    BC024327.1 BC065910.1 

    7 DOTS entries:

    DT.75199960  DT.102838677  DT.101978725  DT.100751429  DT.100751430  DT.121487564  DT.97860466 

    24/99 AceView cDNA sequences (see all 99):

    BU683059 BQ184471 BM825557 CK823256 BM692571 BU624573 BM832176 BQ182206 
    BU624563 BQ082811 BM832211 NM_145057 CK823257 BC065910 BM987248 BQ027640 
    BM856631 BQ187568 BM987659 BU677786 CB853027 BM893595 BM988166 BM826478 

    GeneLoc Exon Structure


    (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

    CDC42EP5 expression in normal human tissues (normalized intensities)      CDC42EP5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGCGGCGC
    CDC42EP5 Expression
    About this image


    CDC42EP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Intestine
             Human Villous Mesenchymal Fibroblasts (HVMF)   
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 5
     
     Fibroblast (Uncategorized)
             Human Villous Mesenchymal Fibroblasts (HVMF)   
     
     Stomach (Gastrointestinal Tract)

    See CDC42EP5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDC42EP5

    SOURCE GeneReport for Unigene cluster: Hs.415791
        SABiosciences Custom PCR Arrays for CDC42EP5
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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 chordates.

    Orthologs for CDC42EP5 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc42ep51 , 5 CDC42 effector protein (Rho GTPase binding) 51, 5 79.28(n)1
    80.41(a)1
      7 (2.40 cM)5
    588041  NM_021454.31  NP_067429.11 
     41512605 
    lizard
    (Anolis carolinensis)
    Reptilia CDC42EP56
    --
    Uncharacterized protein
    36(a)
    17(a)
    1 ↔ 1
    possible ortholog
    GL343329.1(1065568-1066083)
    LGf(1794357-1795040)
    zebrafish
    (Danio rerio)
    Actinopterygii cdc42ep1b6
    zgc:1540936
    zgc:154093
    18(a)
    14(a)
    1 ↔ 1
    possible ortholog
    16(15627288-15632577)
    15(23047062-23053285)


    ENSEMBL Gene Tree for CDC42EP5 (if available)
    TreeFam Gene Tree for CDC42EP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDC42EP5 gene
    CDC42EP42  CDC42EP12  
    2 SIMAP similar genes for CDC42EP5 using alignment to 1 protein entry:     BORG3_HUMAN:
    CDC42EP4    CDC42EP1

    CDC42EP5 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

    10/226 SNPs in CDC42EP5 are shown (see all 226)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455541951,2
    --54976922(+) TCAGGC/TGATTC 1 -- int10--------
    rs1927635781,2
    --54977011(+) ACGGGG/TTTTCA 1 -- int10--------
    rs1404404671,2
    C--54977019(+) TCACAA/GTGTTG 1 -- int10--------
    rs1399041661,2
    C--54977111(+) ACCGC-/GCCCGG 1 -- int10--------
    rs799187631,2
    C,F--54977199(+) TAACCT/GGACTC 1 -- int11Minor allele frequency- G:0.02WA 118
    rs72466431,2
    C,F,H--54977628(+) gtctcA/Tataaa 1 -- int111Minor allele frequency- T:0.34NA WA CSA EA 371
    rs1165761311,2
    F--54977918(+) ATAACA/GATTAT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs72489471,2
    C,F,H--54977981(+) aaagtG/Atagga 1 -- int120Minor allele frequency- A:0.36NS EA NA WA CSA 1214
    rs1828820631,2
    --54978067(+) CATAGA/GGGTCC 1 -- int10--------
    rs105740031,2
    C--54978119(+) TGATC-/TTTTTTTT 2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for CDC42EP5 (54976210 - 54984422 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CDC42EP5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718872CNV Deletion23290073
    esv2667609CNV Deletion23128226
    nsv912413CNV Loss21882294
    nsv833878CNV Loss17160897
    dgv1119e1CNV Complex17122850

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609171    OMIM disorders: --

    2 diseases for CDC42EP5:    About MalaCards
    wolfram syndrome    quadriplegia

    2 diseases from the University of Copenhagen DISEASES database for CDC42EP5:
    Wolfram syndrome     Quadriplegia

    CDC42EP5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CDC42EP5

    Export disorders for CDC42EP5 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 CDC42EP5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CDC42EP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Borg proteins control septin organization and are negatively regulated by Cdc42. (PubMed id 11584266)1, 9 Joberty G.... Macara I.G. (2001)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. (PubMed id 11035016)1 Hirsch D.S....Burbelo P.D. (2001)
    7. The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. (PubMed id 10490598)1 Joberty G.... Macara I.G. (1999)
    8. [Screening for lymphatic metastasis-associated genes in mouse hepatocarcinoma cell lines Hca-F and Hca-P using gene chip] (PubMed id 16004799)9 Song B....Hou L. (2005)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 148170 HGNC: 17408 AceView: CDC42EP5 Ensembl:ENSG00000167617 euGenes: HUgn148170
    ECgene: CDC42EP5 H-InvDB: CDC42EP5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CDC42EP5 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 CDC42EP5 gene:
    Search GeneIP for patents involving CDC42EP5

    GeneCards and IP:
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