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 b... See more...

Aliases for CDC42EP5 Gene

Aliases for CDC42EP5 Gene

  • CDC42 Effector Protein 5 2 3 5
  • Binder Of Rho GTPases 3 2 3 4
  • CEP5 2 3 4
  • CDC42 Effector Protein (Rho GTPase Binding) 5 2 3
  • Cdc42 Effector Protein 5 3 4
  • Borg3 2 3
  • CDC42EP5 5
  • BORG3 4

External Ids for CDC42EP5 Gene

Previous GeneCards Identifiers for CDC42EP5 Gene

  • GC19M055400
  • GC19M059652
  • GC19M059668
  • GC19M054976
  • GC19M051301

Summaries for CDC42EP5 Gene

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 5) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include GTP-Rho binding. An important paralog of this gene is CDC42EP4.

UniProtKB/Swiss-Prot Summary for CDC42EP5 Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC42EP5 Gene

Genomics for CDC42EP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC42EP5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42EP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC42EP5

Top Transcription factor binding sites by QIAGEN in the CDC42EP5 gene promoter:
  • ATF-2
  • CRE-BP1
  • CREB
  • E47
  • Hand1
  • LyF-1
  • NF-kappaB1
  • Pax-5
  • Spz1

Genomic Locations for CDC42EP5 Gene

Latest Assembly
chr19:54,465,026-54,473,296
(GRCh38/hg38)
Size:
8,271 bases
Orientation:
Minus strand

Previous Assembly
chr19:54,976,210-54,984,443
(GRCh37/hg19 by Entrez Gene)
Size:
8,234 bases
Orientation:
Minus strand

chr19:54,976,210-54,984,411
(GRCh37/hg19 by Ensembl)
Size:
8,202 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):371,539-379,710 (-)
  • chr19(ALT_REF_LOCI_7):369,718-377,951 (-)
  • chr19(ALT_REF_LOCI_9):447,324-455,557 (-)

Genomic View for CDC42EP5 Gene

Genes around CDC42EP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42EP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42EP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42EP5 Gene

Proteins for CDC42EP5 Gene

  • Protein details for CDC42EP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NZY7-BORG3_HUMAN
    Recommended name:
    Cdc42 effector protein 5
    Protein Accession:
    Q6NZY7
    Secondary Accessions:
    • B0VJZ2
    • Q8TB51

    Protein attributes for CDC42EP5 Gene

    Size:
    148 amino acids
    Molecular mass:
    15207 Da
    Quaternary structure:
    • Interacts with CDC42, in a GTP-dependent manner, and with SEPT7.

neXtProt entry for CDC42EP5 Gene

Post-translational modifications for CDC42EP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDC42EP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDC42EP5 Gene

Domains & Families for CDC42EP5 Gene

Gene Families for CDC42EP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDC42EP5 Gene

Suggested Antigen Peptide Sequences for CDC42EP5 Gene

GenScript: Design optimal peptide antigens:
  • CDC42 effector protein (Rho GTPase binding) 5 (B2VAM5_HUMAN)
  • Binder of Rho GTPases 3 (BORG3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NZY7

UniProtKB/Swiss-Prot:

BORG3_HUMAN :
  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the BORG/CEP family.
Domain:
  • The CRIB domain mediates interaction with CDC42.
Family:
  • Belongs to the BORG/CEP family.
genes like me logo Genes that share domains with CDC42EP5: view

Function for CDC42EP5 Gene

Molecular function for CDC42EP5 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for CDC42EP5 Gene

Gene Ontology (GO) - Molecular Function for CDC42EP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031267 small GTPase binding IPI 11035016
genes like me logo Genes that share ontologies with CDC42EP5: view
genes like me logo Genes that share phenotypes with CDC42EP5: view

Animal Models for CDC42EP5 Gene

MGI Knock Outs for CDC42EP5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CDC42EP5 Gene

Localization for CDC42EP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42EP5 Gene

Endomembrane system. Peripheral membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC42EP5 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CDC42EP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 11035016
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with CDC42EP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDC42EP5 Gene

Pathways & Interactions for CDC42EP5 Gene

PathCards logo

SuperPathways for CDC42EP5 Gene

genes like me logo Genes that share pathways with CDC42EP5: view

Pathways by source for CDC42EP5 Gene

2 Qiagen pathways for CDC42EP5 Gene
  • Rho Family GTPases
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for CDC42EP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007254 JNK cascade IEA --
GO:0007266 Rho protein signal transduction IEA,IBA 21873635
GO:0008360 regulation of cell shape IEA,IDA 11035016
GO:0030838 positive regulation of actin filament polymerization IDA 11035016
GO:0031274 positive regulation of pseudopodium assembly IBA,IDA 11035016
genes like me logo Genes that share ontologies with CDC42EP5: view

No data available for SIGNOR curated interactions for CDC42EP5 Gene

Drugs & Compounds for CDC42EP5 Gene

(1) Drugs for CDC42EP5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CDC42EP5: view

Transcripts for CDC42EP5 Gene

mRNA/cDNA for CDC42EP5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP5

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP5 Gene

No ASD Table

Relevant External Links for CDC42EP5 Gene

GeneLoc Exon Structure for
CDC42EP5

Expression for CDC42EP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC42EP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDC42EP5 Gene

This gene is overexpressed in Colon - Transverse (x8.3).

Protein differential expression in normal tissues from HIPED for CDC42EP5 Gene

This gene is overexpressed in Islet of Langerhans (26.5), Fetal ovary (17.4), Prostate (14.1), and Placenta (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42EP5 Gene



Protein tissue co-expression partners for CDC42EP5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC42EP5

SOURCE GeneReport for Unigene cluster for CDC42EP5 Gene:

Hs.415791

Evidence on tissue expression from TISSUES for CDC42EP5 Gene

  • Pancreas(4.1)
  • Bone(4)
genes like me logo Genes that share expression patterns with CDC42EP5: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42EP5 Gene

Orthologs for CDC42EP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDC42EP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDC42EP5 29 30
  • 99.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDC42EP5 29 30
  • 91.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDC42EP5 29 30
  • 87.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdc42ep5 29 16 30
  • 78.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc42ep5 29
  • 73.87 (n)
Lizard
(Anolis carolinensis)
Reptilia CDC42EP5 30
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii cdc42ep1b 30
  • 21 (a)
OneToOne
Species where no ortholog for CDC42EP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDC42EP5 Gene

ENSEMBL:
Gene Tree for CDC42EP5 (if available)
TreeFam:
Gene Tree for CDC42EP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42EP5: view image
Alliance of Genome Resources:
Additional Orthologs for CDC42EP5

Paralogs for CDC42EP5 Gene

Paralogs for CDC42EP5 Gene

(2) SIMAP similar genes for CDC42EP5 Gene using alignment to 1 proteins:

  • BORG3_HUMAN
genes like me logo Genes that share paralogs with CDC42EP5: view

Variants for CDC42EP5 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDC42EP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDC42EP5 Gene

Variant ID Type Subtype PubMed ID
dgv3663n100 CNV gain 25217958
esv2667609 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
nsv1148744 OTHER inversion 26484159
nsv833878 CNV loss 17160897

Variation tolerance for CDC42EP5 Gene

Gene Damage Index Score: 3.37; 53.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42EP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP5
Leiden Open Variation Database (LOVD)
CDC42EP5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC42EP5 Gene

Disorders for CDC42EP5 Gene

Additional Disease Information for CDC42EP5

No disorders were found for CDC42EP5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CDC42EP5 Gene

Publications for CDC42EP5 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Borg proteins control septin organization and are negatively regulated by Cdc42. (PMID: 11584266) Joberty G … Macara IG (Nature cell biology 2001) 3 22
  3. The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. (PMID: 31527615) Nassa G … Weisz A (Scientific data 2019) 3
  4. The Borg family of Cdc42 effector proteins Cdc42EP1-5. (PMID: 27913681) Farrugia AJ … Calvo F (Biochemical Society transactions 2016) 3
  5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. (PMID: 24104479) Vizeacoumar FJ … Moffat J (Molecular systems biology 2013) 3

Products for CDC42EP5 Gene

Sources for CDC42EP5 Gene