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 family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coex... See more...

Aliases for CDC42EP2 Gene

Aliases for CDC42EP2 Gene

  • CDC42 Effector Protein 2 2 3 5
  • Binder Of Rho GTPases 1 2 3 4
  • BORG1 2 3 4
  • CEP2 2 3 4
  • CDC42 Effector Protein (Rho GTPase Binding) 2 2 3
  • CRIB-Containing BOGR1 Protein 2 3
  • Cdc42 Effector Protein 2 3 4
  • CDC42EP2 5

External Ids for CDC42EP2 Gene

Previous GeneCards Identifiers for CDC42EP2 Gene

  • GC11P067598
  • GC11P066764
  • GC11P064857
  • GC11P064838
  • GC11P065082
  • GC11P061409

Summaries for CDC42EP2 Gene

Entrez Gene Summary for CDC42EP2 Gene

  • 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 family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]

GeneCards Summary for CDC42EP2 Gene

CDC42EP2 (CDC42 Effector Protein 2) is a Protein Coding gene. Diseases associated with CDC42EP2 include Epilepsy, Familial Temporal Lobe, 4 and Branchiootic Syndrome. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and opioid peptide activity. An important paralog of this gene is CDC42EP3.

UniProtKB/Swiss-Prot Summary for CDC42EP2 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 in a CDC42-dependent manner.

Gene Wiki entry for CDC42EP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC42EP2 Gene

Genomics for CDC42EP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC42EP2 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 CDC42EP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC42EP2

Top Transcription factor binding sites by QIAGEN in the CDC42EP2 gene promoter:
  • Elk-1
  • FOXO4
  • IRF-1
  • NRF-2
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1
  • Spz1
  • STAT5A

Genomic Locations for CDC42EP2 Gene

Latest Assembly
chr11:65,314,866-65,322,417
(GRCh38/hg38)
Size:
7,552 bases
Orientation:
Plus strand

Previous Assembly
chr11:65,082,337-65,089,888
(GRCh37/hg19 by Entrez Gene)
Size:
7,552 bases
Orientation:
Plus strand

chr11:65,082,289-65,089,900
(GRCh37/hg19 by Ensembl)
Size:
7,612 bases
Orientation:
Plus strand

Genomic View for CDC42EP2 Gene

Genes around CDC42EP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42EP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42EP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42EP2 Gene

Proteins for CDC42EP2 Gene

  • Protein details for CDC42EP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14613-BORG1_HUMAN
    Recommended name:
    Cdc42 effector protein 2
    Protein Accession:
    O14613
    Secondary Accessions:
    • B2RD85
    • Q9UNS0

    Protein attributes for CDC42EP2 Gene

    Size:
    210 amino acids
    Molecular mass:
    22484 Da
    Quaternary structure:
    • Interacts with RHOQ and CDC42 in a GTP-dependent manner, and with SEPT7.

neXtProt entry for CDC42EP2 Gene

Post-translational modifications for CDC42EP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDC42EP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for CDC42EP2 Gene

Domains & Families for CDC42EP2 Gene

Gene Families for CDC42EP2 Gene

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

Protein Domains for CDC42EP2 Gene

Suggested Antigen Peptide Sequences for CDC42EP2 Gene

GenScript: Design optimal peptide antigens:
  • Binder of Rho GTPases 1 (BORG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14613

UniProtKB/Swiss-Prot:

BORG1_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 CDC42EP2: view

Function for CDC42EP2 Gene

Molecular function for CDC42EP2 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 in a CDC42-dependent manner.

Phenotypes From GWAS Catalog for CDC42EP2 Gene

Gene Ontology (GO) - Molecular Function for CDC42EP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001515 opioid peptide activity IEA --
GO:0005096 GTPase activator activity IMP 10430899
GO:0005515 protein binding IPI 11584266
GO:0031267 small GTPase binding IPI 11035016
genes like me logo Genes that share ontologies with CDC42EP2: view
genes like me logo Genes that share phenotypes with CDC42EP2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CDC42EP2 Gene

Localization for CDC42EP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42EP2 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 CDC42EP2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42EP2 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 IBA,IDA 10430899
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with CDC42EP2: view

Pathways & Interactions for CDC42EP2 Gene

PathCards logo

SuperPathways for CDC42EP2 Gene

genes like me logo Genes that share pathways with CDC42EP2: view

Pathways by source for CDC42EP2 Gene

1 GeneGo (Thomson Reuters) pathway for CDC42EP2 Gene
  • Cytoskeleton remodeling CDC42 in cellular processes
3 Qiagen pathways for CDC42EP2 Gene
  • CDC42 Pathway
  • Rho Family GTPases
  • RhoA Pathway

SIGNOR curated interactions for CDC42EP2 Gene

Other effect:

Gene Ontology (GO) - Biological Process for CDC42EP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization NAS 11035016
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0008360 regulation of cell shape IEA,IDA 11035016
GO:0030036 actin cytoskeleton organization IDA 10430899
GO:0030838 positive regulation of actin filament polymerization IDA 11035016
genes like me logo Genes that share ontologies with CDC42EP2: view

Drugs & Compounds for CDC42EP2 Gene

(1) Drugs for CDC42EP2 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 CDC42EP2: view

Transcripts for CDC42EP2 Gene

mRNA/cDNA for CDC42EP2 Gene

1 REFSEQ mRNAs :
9 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 CDC42EP2

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP2 Gene

No ASD Table

Relevant External Links for CDC42EP2 Gene

GeneLoc Exon Structure for
CDC42EP2

Expression for CDC42EP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC42EP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDC42EP2 Gene

This gene is overexpressed in Fetal testis (28.8), Prostate (18.6), Placenta (14.6), and Ovary (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42EP2 Gene



Protein tissue co-expression partners for CDC42EP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC42EP2

SOURCE GeneReport for Unigene cluster for CDC42EP2 Gene:

Hs.343380

mRNA Expression by UniProt/SwissProt for CDC42EP2 Gene:

O14613-BORG1_HUMAN
Tissue specificity: Highly expressed in the heart. Weakly expressed in the pancreas and liver.

Evidence on tissue expression from TISSUES for CDC42EP2 Gene

  • Nervous system(4.6)
  • Heart(4.2)
  • Lung(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with CDC42EP2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42EP2 Gene

Orthologs for CDC42EP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDC42EP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDC42EP2 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDC42EP2 29 30
  • 89.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDC42EP2 29 30
  • 87.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdc42ep2 29 16 30
  • 85.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc42ep2 29
  • 85.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia CDC42EP2 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDC42EP2 29
  • 70.45 (n)
Lizard
(Anolis carolinensis)
Reptilia CDC42EP2 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdc42ep2 29
  • 61.75 (n)
Str.737 29
African clawed frog
(Xenopus laevis)
Amphibia MGC53732 29
Zebrafish
(Danio rerio)
Actinopterygii cdc42ep2 29 30
  • 60.45 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7243 30
  • 19 (a)
OneToMany
Species where no ortholog for CDC42EP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDC42EP2 Gene

ENSEMBL:
Gene Tree for CDC42EP2 (if available)
TreeFam:
Gene Tree for CDC42EP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42EP2: view image
Alliance of Genome Resources:
Additional Orthologs for CDC42EP2

Paralogs for CDC42EP2 Gene

Paralogs for CDC42EP2 Gene

(1) SIMAP similar genes for CDC42EP2 Gene using alignment to 1 proteins:

  • BORG1_HUMAN
genes like me logo Genes that share paralogs with CDC42EP2: view

Variants for CDC42EP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC42EP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs4149836 Benign: not provided 65,321,177(+) G/C
NM_006779.4(CDC42EP2):c.279G>C (p.Gly93=)
SYNONYMOUS
rs4149839 -- p.Asn176Ser
rs7120634 -- p.Ile191Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDC42EP2 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 CDC42EP2 Gene

Variant ID Type Subtype PubMed ID
esv2422285 CNV deletion 17116639
nsv526181 CNV gain 19592680
nsv832190 CNV loss 17160897

Variation tolerance for CDC42EP2 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42EP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP2
Leiden Open Variation Database (LOVD)
CDC42EP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42EP2 Gene

Disorders for CDC42EP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CDC42EP2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC42EP2

genes like me logo Genes that share disorders with CDC42EP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC42EP2 Gene

Publications for CDC42EP2 Gene

  1. A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. (PMID: 11035016) Hirsch DS … Burbelo PD (The Journal of biological chemistry 2001) 2 3 4
  2. The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. (PMID: 10490598) Joberty G … Macara IG (Molecular and cellular biology 1999) 2 3 4
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Borg proteins control septin organization and are negatively regulated by Cdc42. (PMID: 11584266) Joberty G … Macara IG (Nature cell biology 2001) 3 4

Products for CDC42EP2 Gene

Sources for CDC42EP2 Gene