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Aliases for CDC42EP3 Gene

Aliases for CDC42EP3 Gene

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

External Ids for CDC42EP3 Gene

Previous GeneCards Identifiers for CDC42EP3 Gene

  • GC02M037836
  • GC02M038019
  • GC02M037845
  • GC02M037782
  • 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. Among its related pathways are RET signaling and Actin Nucleation by ARP-WASP Complex. 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 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

Additional gene information for CDC42EP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42EP3 Gene

Genomics for CDC42EP3 Gene

Regulatory Elements for CDC42EP3 Gene

Enhancers for CDC42EP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H037664 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.7 +69.7 69736 9 ATF1 SIN3A FEZF1 GLIS2 ZNF143 ZNF207 RUNX3 SP3 REST SMARCA4 CDC42EP3 LOC105374464 QPCT CYP1B1 GC02P037671 GC02M037562
GH02H037633 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +92.2 92217 26 HDGF PKNOX1 ETS1 ZNF766 ZNF143 FOS ATF7 RUNX3 JUNB REST CDC42EP3 LOC105374464 RNU6-939P QPCT EIF2AK2 CEBPZ CYP1B1 GC02P037671 GC02M037562
GH02H037582 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.9 +151.7 151734 8 HDGF PKNOX1 ZSCAN4 BATF RAD21 RFX5 ELK1 SCRT2 FOS ETV6 CDC42EP3 ENSG00000272054 HEATR5B LOC105374464 PRKD3 EIF2AK2 CYP1B1 GC02M037562 GC02P037671
GH02H037560 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +176.4 176377 3 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 FOS CAVIN1 NCOA1 ENSG00000272054 CEBPZ CDC42EP3 HEATR5B LOC105374464 EIF2AK2 GC02M037562
GH02H037558 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15 +179.7 179738 0 HDGF PKNOX1 ZNF175 EBF1 BATF ZNF766 EED ETV6 RUNX3 IKZF2 CDC42EP3 LOC105374464 EIF2AK2 GC02M037562
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDC42EP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDC42EP3 Gene

Chromosome:
2
Start:
37,641,882 bp from pter
End:
37,738,468 bp from pter
Size:
96,587 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC42EP3 Gene

GenScript: Design optimal peptide antigens:

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:0005096 GTPase activator activity IBA --
GO:0005519 cytoskeletal regulatory protein binding TAS 11035016
GO:0017049 GTP-Rho binding IBA --
genes like me logo Genes that share ontologies with CDC42EP3: view
genes like me logo Genes that share phenotypes with CDC42EP3: view

Animal Model Products

CRISPR Products

miRNA for CDC42EP3 Gene

miRTarBase miRNAs that target CDC42EP3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CDC42EP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytoskeleton 5
cytosol 5
plasma membrane 3
nucleus 3
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CDC42EP3 Gene

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

Pathways & Interactions 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
3 Qiagen pathways for CDC42EP3 Gene

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 --
GO:0008360 regulation of cell shape IEA,IBA --
GO:0030838 positive regulation of actin filament polymerization IBA --
GO:0031274 positive regulation of pseudopodium assembly IBA --
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

Unigene Clusters for CDC42EP3 Gene

CDC42 effector protein (Rho GTPase binding) 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CDC42EP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
CDC42EP3

Expression for CDC42EP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CDC42EP3 Gene



Protein tissue co-expression partners for CDC42EP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42EP3 Gene:

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(4.5)
  • Heart(4.3)
  • Liver(4.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with CDC42EP3: view

Primer Products

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 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia CDC42EP3 33 34
  • 89.24 (n)
dog
(Canis familiaris)
Mammalia CDC42EP3 33 34
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Cdc42ep3 33
  • 87.8 (n)
mouse
(Mus musculus)
Mammalia Cdc42ep3 33 16 34
  • 87.53 (n)
oppossum
(Monodelphis domestica)
Mammalia CDC42EP3 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC42EP3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC42EP3 33 34
  • 73.17 (n)
lizard
(Anolis carolinensis)
Reptilia CDC42EP3 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42ep3 33
  • 68.12 (n)
Str.12221 33
zebrafish
(Danio rerio)
Actinopterygii cdc42ep3 33 34
  • 64.83 (n)
wufc21b02 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7243 34
  • 20 (a)
OneToMany
Species where no ortholog for CDC42EP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CDC42EP3 Gene

Paralogs for CDC42EP3 Gene

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

Pseudogenes.org Pseudogenes for CDC42EP3 Gene

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

Variants for CDC42EP3 Gene

Sequence variations from dbSNP and Humsavar for CDC42EP3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000034337 -- 37,656,820(+) CTGAC(C/G)TTGTC intron-variant
rs1000057369 -- 37,658,888(+) GGTAC(C/G)TAGAA intron-variant
rs1000180105 -- 37,663,706(+) GTGTG(A/G)TGGTT intron-variant
rs1000232460 -- 37,663,858(+) ATCAG(C/T)TGCCA intron-variant
rs1000357113 -- 37,668,804(+) GAAGA(C/G)TGCTT intron-variant

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)

Relevant External Links for CDC42EP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42EP3 Gene

Disorders for CDC42EP3 Gene

Relevant External Links for CDC42EP3

Genetic Association Database (GAD)
CDC42EP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDC42EP3

No disorders were found for CDC42EP3 Gene.

No data available for MalaCards , 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 60
  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 45 60
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 45 60
  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 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60

Products for CDC42EP3 Gene

Sources for CDC42EP3 Gene

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