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

CDC42EP4 Gene

protein-coding   GIFtS: 52
GCID: GC17M071279

CDC42 effector protein (Rho GTPase binding) 4

 Explore 1 disease affiliated with
CDC42EP4 via our new
 Human Malady Compendium 
Biological research products
for CDC42EP4
    

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

Aliases
CDC42 Effector Protein (Rho GTPase Binding) 41 2     Binder Of Rho GTPases 42 3
BORG41 2 3 5     MGC171251
CEP41 2 3     MGC37401
KAIA17771 2     Cdc42 Effector Protein 42

External Ids:    HGNC: 171471   Entrez Gene: 235802   Ensembl: ENSG000001796047   OMIM: 6054685   UniProtKB: Q9H3Q13   

Export aliases for CDC42EP4 gene to outside databases

Previous GC identifers: GC17P071218 GC17M074320 GC17M071744 GC17M071876 GC17M068791 GC17M066689


(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 CDC42EP4:
The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho
family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42
and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce
pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BORG4_HUMAN, Q9H3Q1
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, when overexpressed in fibroblasts

Gene Wiki entry for CDC42EP4


(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDC42EP4 gene promoter:
         POU3F1   Nkx2-5   NF-kappaB   GATA-1   Meis-1b   GATA-6   Meis-1a   Zic3   Meis-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC42EP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDC42EP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDC42EP4


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

Entrez Gene cytogenetic band: 17q24-q25   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q24-q25

CDC42EP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC42EP4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M071279:  view genomic region     (about GC identifiers)

Start:
71,279,763 bp from pter      End:
71,308,314 bp from pter
Size:
28,552 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: BORG4_HUMAN, Q9H3Q1 (See protein sequence)
Recommended Name: Cdc42 effector protein 4  
Size: 356 amino acids; 37980 Da
Subunit: Interacts with CDC42 and RHOQ, in a GTP-dependent manner (By similarity)
Subcellular location: Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton
Secondary accessions: O95828 Q96FT3

Explore the universe of human proteins at neXtProt for CDC42EP4: NX_Q9H3Q1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3Q1

  • CDC42EP4 Protein expression data from MOPED and PaxDb:    About this image 
    CDC42EP4 Protein Expression
    REFSEQ proteins: NP_036253.2  
    ENSEMBL proteins: 
     ENSP00000338258   ENSP00000404270   ENSP00000464104   ENSP00000462231   ENSP00000463877  

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    Uscn Proteins for CDC42EP4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0012505endomembrane system IEA--
    GO:0015629actin cytoskeleton IDA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0016020membrane IEA--

    CDC42EP4 for ontologies           About GeneDecksing



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

    CDC42EP4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000095 PAK_box_Rho-bd

    Graphical View of Domain Structure for InterPro Entry Q9H3Q1

    ProtoNet protein and cluster: Q9H3Q1

    UniProtKB/Swiss-Prot: BORG4_HUMAN, Q9H3Q1
    Similarity: Belongs to the BORG/CEP family
    Similarity: Contains 1 CRIB domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BORG4_HUMAN, Q9H3Q1
    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, when overexpressed in fibroblasts

         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 NAS11035016
         
    CDC42EP4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDC42EP4:
     Proliferating cells 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDC42EP4 

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    SwitchGear 3'UTR luciferase reporter plasmidCDC42EP4 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC42EP4


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Rho Family GTPases
    Rho Family GTPases1.00
    2Actin Nucleation by ARP-WASP Complex
    RhoA Pathway0.35

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDC42EP4
        RhoA Pathway
    Rho Family GTPases


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDC42EP4

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

    5/9 Interacting proteins for CDC42EP4 (Q9H3Q12, 3 ENSP000003382584) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR6Q9NNW52, 3, ENSP000003788574MINT-66544 I2D: score=4 STRING: ENSP00000378857
    RHOQP170813, ENSP000002387384I2D: score=4 STRING: ENSP00000238738
    POLR3HQ9Y5353, ENSP000003473454I2D: score=1 STRING: ENSP00000347345
    CDC42P609533, ENSP000003144584I2D: score=4 STRING: ENSP00000314458
    TGFBR1P368973, ENSP000003641334I2D: score=3 STRING: ENSP00000364133
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007266Rho protein signal transduction IEA--
    GO:0008360regulation of cell shape IDA11035016
    GO:0031274positive regulation of pseudopodium assembly IDA11035016

    CDC42EP4 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 CDC42EP4

    1 HMDB Compound for CDC42EP4    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 CDC42EP4 / BORG4 

    (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, Sirion Biotech, 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 CDC42EP4 gene: 
    NM_012121.4  

    Unigene Cluster for CDC42EP4:

    CDC42 effector protein (Rho GTPase binding) 4
    Hs.3903  [show with all ESTs]
    Unigene Representative Sequence: BC002774
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335793(uc002jjn.3 uc002jjo.3 uc002jjp.1) ENST00000439510
    ENST00000581014 ENST00000580315 ENST00000579611 ENST00000581045 ENST00000582303
    ENST00000578516

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    hsa-miR-2052 hsa-miR-3128 hsa-miR-875-3p hsa-miR-19b-2* hsa-miR-922 hsa-miR-409-3p hsa-miR-3133 hsa-miR-33a*
    SwitchGear 3'UTR luciferase reporter plasmidCDC42EP4 3' UTR sequence
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    Additional cDNA sequence: 

    AB042237.1 AF099664.1 AK027385.1 AK097835.1 AK312536.1 AL162074.1 BC002774.1 BC010451.1 

    11 DOTS entries:

    DT.92025596  DT.100786650  DT.100709605  DT.95127934  DT.102830260  DT.100786644  DT.102830259  DT.100713156 
    DT.100786646  DT.100786651  DT.95127946 

    24/471 AceView cDNA sequences (see all 471):

    BU197034 BQ686174 BQ684865 BQ686651 CA424799 BQ897236 BQ684801 BQ686739 
    BQ689691 BI062973 BU197080 BQ686962 BQ685342 CB123156 BQ685926 BU191019 
    BQ879953 BQ689976 BU174701 NM_012121 BU145435 BQ690700 BQ688322 BU179747 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP4 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8
    SP1:                    -     -     -     -                                             
    SP2:                    -     -     -     -     -                       -     -         
    SP3:                                            -                                       
    SP4:                    -     -     -     -     -                                       
    SP5:                                                                                    


    ECgene alternative splicing isoforms for CDC42EP4

    (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

    CDC42EP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATATTGTCAA
    CDC42EP4 Expression
    About this image
    See CDC42EP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDC42EP4

    SOURCE GeneReport for Unigene cluster: Hs.3903

    UniProtKB/Swiss-Prot: BORG4_HUMAN, Q9H3Q1
    Tissue specificity: Not detected in any of the adult tissues tested. May be expressed only in fetal or embryonic
    tissues

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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 CDC42EP4 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CDC42EP41 CDC42 effector protein (Rho GTPase binding) 4 71.56(n)
    70.33(a)
      771509  XM_001233619.2  XP_001233620.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDC42EP46
    --
    63(a)
    1 ↔ 1
    2(96837454-96838479)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165472 Xenopus laevis transcribed sequence with weak similarity more 76.77(n)    48050839 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb55a052 Transcribed sequence with weak similarity to protein more 73.41(n)    BM184609.1 


    ENSEMBL Gene Tree for CDC42EP4 (if available)
    TreeFam Gene Tree for CDC42EP4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDC42EP4 gene
    CDC42EP52  CDC42EP32  CDC42EP22  CDC42EP12  
    2 SIMAP similar genes for CDC42EP4 using alignment to 6 protein entries:     BORG4_HUMAN (see all proteins):
    CDC42EP1    CDC42EP5

    CDC42EP4 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

    10/642 NCBI SNPs in CDC42EP4 are shown (see all 642    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1898511601,2
    --71279384(+) AAAACA/TAAACA 1 -- ds50010--------
    rs1495261251,2
    --71279398(+) AAAAC-/AAAAAA 1 -- ds50010--------
    rs2013050031,2
    --71279399(+) AACAA-/CAAAAA 1 -- ds50010--------
    rs782599411,2
    C--71279400(+) AACAAC/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1824143861,2
    --71279441(+) TCCCCA/CACAAA 1 -- ds50010--------
    rs1455091341,2
    --71279638(+) AAGGGC/TGGGTC 1 -- ds50010--------
    rs46418121,2
    C,F,A,H--71279681(-) GTCCAG/AGGGGG 1 -- ds500114Minor allele frequency- A:0.49NS EA NA WA CSA 772
    rs1465156961,2
    --71279682(+) CCCCCG/TGGACA 1 -- ds50010--------
    rs341212961,2
    C--71279773(+) AGGGC-/TTTTTT 1 -- ut310--------
    rs567645571,2
    C--71279774(+) TTTTTT/-AATGT 1 -- ut311Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for CDC42EP4 (71279763 - 71308314 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CDC42EP4
         2 CNVs: 5880 5879

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CDC42EP4 for disorders           About GeneDecksing

    OMIM gene information: 605468    OMIM disorders: --

    1 disease for CDC42EP4:    About MalaCards
    retinitis


    Export disorders for CDC42EP4 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 CDC42EP4 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CDC42EP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. (PubMed id 11035016)1, 2, 3, 9 Hirsch D.S....Burbelo P.D. (2001)
    2. Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue. (PubMed id 11185749)1, 2, 9 Osada N.... Hashimoto K. (2000)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. 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)
    5. The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. (PubMed id 10490598)1, 3 Joberty G.... Macara I.G. (1999)
    6. Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23580 HGNC: 17147 AceView: CDC42EP4 Ensembl:ENSG00000179604 euGenes: HUgn23580
    ECgene: CDC42EP4 H-InvDB: CDC42EP4

    (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 CDC42EP4 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 CDC42EP4 gene:
    Search GeneIP for patents involving CDC42EP4

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



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