This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of thi... See more...

Aliases for CDC42EP3 Gene

Aliases for CDC42EP3 Gene

  • CDC42 Effector Protein 3 2 3 5
  • Binder Of Rho GTPases 2 2 3 4
  • BORG2 2 3 4
  • CEP3 2 3 4
  • CDC42 Effector Protein (Rho GTPase Binding) 3 2 3
  • MSE55-Related Cdc42-Binding Protein 3 4
  • Cdc42 Effector Protein 3 3 4
  • UB1 2 3
  • CRIB-Containing BORG2 Protein 3
  • MSE55-Related Protein 3
  • CDC42EP3 5

External Ids for CDC42EP3 Gene

Previous GeneCards Identifiers for CDC42EP3 Gene

  • GC02M037836
  • GC02M038019
  • GC02M037845
  • GC02M037782
  • GC02M037610
  • GC02M037878

Summaries for CDC42EP3 Gene

Entrez Gene Summary for CDC42EP3 Gene

  • This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

GeneCards Summary for CDC42EP3 Gene

CDC42EP3 (CDC42 Effector Protein 3) is a Protein Coding gene. Diseases associated with CDC42EP3 include Vertebrobasilar Insufficiency and Arthrogryposis Multiplex Congenita 2, Neurogenic Type. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include GTP-Rho binding and cytoskeletal regulatory protein binding. An important paralog of this gene is CDC42EP2.

UniProtKB/Swiss-Prot Summary for CDC42EP3 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.

Gene Wiki entry for CDC42EP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC42EP3 Gene

Genomics for CDC42EP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC42EP3 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 CDC42EP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC42EP3

Top Transcription factor binding sites by QIAGEN in the CDC42EP3 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-5
  • Pax-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RSRFC4
  • SEF-1 (1)

Genomic Locations for CDC42EP3 Gene

Latest Assembly
chr2:37,641,882-37,738,468
(GRCh38/hg38)
Size:
96,587 bases
Orientation:
Minus strand

Previous Assembly
chr2:37,869,087-37,900,092
(GRCh37/hg19 by Entrez Gene)
Size:
31,006 bases
Orientation:
Minus strand

chr2:37,869,032-37,965,611
(GRCh37/hg19 by Ensembl)
Size:
96,580 bases
Orientation:
Minus strand

Genomic View for CDC42EP3 Gene

Genes around CDC42EP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42EP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42EP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42EP3 Gene

Proteins for CDC42EP3 Gene

  • Protein details for CDC42EP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKI2-BORG2_HUMAN
    Recommended name:
    Cdc42 effector protein 3
    Protein Accession:
    Q9UKI2
    Secondary Accessions:
    • B2R8S0
    • O95353
    • Q9UQJ0

    Protein attributes for CDC42EP3 Gene

    Size:
    254 amino acids
    Molecular mass:
    27678 Da
    Quaternary structure:
    • Interacts with RHOQ and CDC42, in a GTP-dependent manner, and with SEPT7.

neXtProt entry for CDC42EP3 Gene

Post-translational modifications for CDC42EP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CDC42EP3 Gene

Domains & Families for CDC42EP3 Gene

Gene Families for CDC42EP3 Gene

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

Protein Domains for CDC42EP3 Gene

Suggested Antigen Peptide Sequences for CDC42EP3 Gene

GenScript: Design optimal peptide antigens:
  • MSE55-related Cdc42-binding protein (BORG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKI2

UniProtKB/Swiss-Prot:

BORG2_HUMAN :
  • Belongs to the BORG/CEP family.
Family:
  • Belongs to the BORG/CEP family.
genes like me logo Genes that share domains with CDC42EP3: view

Function for CDC42EP3 Gene

Molecular function for CDC42EP3 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.

Phenotypes From GWAS Catalog for CDC42EP3 Gene

Gene Ontology (GO) - Molecular Function for CDC42EP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24947832
GO:0005519 cytoskeletal regulatory protein binding TAS 11035016
GO:0031267 small GTPase binding IBA --
genes like me logo Genes that share ontologies with CDC42EP3: view
genes like me logo Genes that share phenotypes with CDC42EP3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42EP3 Gene

Localization for CDC42EP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42EP3 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 CDC42EP3 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42EP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with CDC42EP3: view

Pathways & Interactions for CDC42EP3 Gene

PathCards logo

SuperPathways for CDC42EP3 Gene

genes like me logo Genes that share pathways with CDC42EP3: view

Pathways by source for CDC42EP3 Gene

1 GeneGo (Thomson Reuters) pathway for CDC42EP3 Gene
  • Cytoskeleton remodeling CDC42 in cellular processes
3 Qiagen pathways for CDC42EP3 Gene
  • CDC42 Pathway
  • Rho Family GTPases
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for CDC42EP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 11035016
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0008360 regulation of cell shape IEA,IBA 21873635
GO:0030838 positive regulation of actin filament polymerization IBA 21873635
GO:0031274 positive regulation of pseudopodium assembly IBA 21873635
genes like me logo Genes that share ontologies with CDC42EP3: view

No data available for SIGNOR curated interactions for CDC42EP3 Gene

Drugs & Compounds for CDC42EP3 Gene

(1) Drugs for CDC42EP3 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 CDC42EP3: view

Transcripts for CDC42EP3 Gene

mRNA/cDNA for CDC42EP3 Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 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 CDC42EP3

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c
SP1: - -
SP2: -
SP3:

Relevant External Links for CDC42EP3 Gene

GeneLoc Exon Structure for
CDC42EP3

Expression for CDC42EP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC42EP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDC42EP3 Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for CDC42EP3 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (45.5) and Bone marrow stromal cell (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42EP3 Gene



Protein tissue co-expression partners for CDC42EP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC42EP3

SOURCE GeneReport for Unigene cluster for CDC42EP3 Gene:

Hs.369574

mRNA Expression by UniProt/SwissProt for CDC42EP3 Gene:

Q9UKI2-BORG2_HUMAN
Tissue specificity: Highly expressed in the heart and weakly in the brain.

Evidence on tissue expression from TISSUES for CDC42EP3 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Heart(4.4)
  • Liver(4.4)
  • Skin(3)
  • Muscle(2.3)
  • Kidney(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with CDC42EP3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42EP3 Gene

Orthologs for CDC42EP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDC42EP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDC42EP3 29 30
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDC42EP3 29 30
  • 89.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDC42EP3 29 30
  • 88.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc42ep3 29
  • 87.8 (n)
Mouse
(Mus musculus)
Mammalia Cdc42ep3 29 16 30
  • 87.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CDC42EP3 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDC42EP3 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDC42EP3 29 30
  • 73.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDC42EP3 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdc42ep3 29
  • 68.12 (n)
Str.12221 29
Zebrafish
(Danio rerio)
Actinopterygii cdc42ep3 29 30
  • 64.83 (n)
OneToOne
wufc21b02 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7243 30
  • 20 (a)
OneToMany
Species where no ortholog for CDC42EP3 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)
  • 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)
  • 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 CDC42EP3 Gene

ENSEMBL:
Gene Tree for CDC42EP3 (if available)
TreeFam:
Gene Tree for CDC42EP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42EP3: view image
Alliance of Genome Resources:
Additional Orthologs for CDC42EP3

Paralogs for CDC42EP3 Gene

Paralogs for CDC42EP3 Gene

(2) SIMAP similar genes for CDC42EP3 Gene using alignment to 4 proteins:

  • BORG2_HUMAN
  • C9J7F7_HUMAN
  • C9JEZ4_HUMAN
  • C9JKW5_HUMAN

Pseudogenes.org Pseudogenes for CDC42EP3 Gene

genes like me logo Genes that share paralogs with CDC42EP3: view

Variants for CDC42EP3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDC42EP3 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 CDC42EP3 Gene

Variant ID Type Subtype PubMed ID
esv2759043 CNV gain+loss 17122850
nsv472066 CNV novel sequence insertion 20440878
nsv508081 OTHER sequence alteration 20534489
nsv833825 CNV gain 17160897
nsv998567 CNV gain 25217958

Variation tolerance for CDC42EP3 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42EP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP3
Leiden Open Variation Database (LOVD)
CDC42EP3

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 CDC42EP3 Gene

Disorders for CDC42EP3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CDC42EP3 Gene - From: COP

Disorder Aliases PubMed IDs
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
arthrogryposis multiplex congenita 2, neurogenic type
  • amc2
superficial urinary bladder cancer
  • superficial urinary bladder carcinoma
retinitis pigmentosa 11
  • rp11
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC42EP3

genes like me logo Genes that share disorders with CDC42EP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC42EP3 Gene

Publications for CDC42EP3 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 22
  2. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 40
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 40
  4. Human fertility protein PUMILIO2 interacts in vitro with testis mRNA encoding Cdc42 effector 3 (CEP3). (PMID: 17173092) Spik A … Jaruzelska J (Reproductive biology 2006) 3 22
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for CDC42EP3 Gene

Sources for CDC42EP3 Gene