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Aliases for CDC42EP4 Gene

Aliases for CDC42EP4 Gene

  • CDC42 Effector Protein 4 2 3 5
  • Binder Of Rho GTPases 4 2 3 4
  • CDC42 Effector Protein (Rho GTPase Binding) 4 2 3
  • Cdc42 Effector Protein 4 2 3
  • BORG4 3 4
  • CEP4 3 4
  • KAIA1777 3

External Ids for CDC42EP4 Gene

Previous GeneCards Identifiers for CDC42EP4 Gene

  • GC17P071218
  • GC17M074320
  • GC17M071744
  • GC17M071876
  • GC17M068791
  • GC17M071279
  • GC17M066689

Summaries for CDC42EP4 Gene

Entrez Gene Summary for CDC42EP4 Gene

  • 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]

GeneCards Summary for CDC42EP4 Gene

CDC42EP4 (CDC42 Effector Protein 4) is a Protein Coding gene. Among its related pathways are Actin Nucleation by ARP-WASP Complex and ERK Signaling. Gene Ontology (GO) annotations related to this gene include GTP-Rho binding. An important paralog of this gene is CDC42EP1.

UniProtKB/Swiss-Prot for CDC42EP4 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, when overexpressed in fibroblasts.

Gene Wiki entry for CDC42EP4 Gene

Additional gene information for CDC42EP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42EP4 Gene

Genomics for CDC42EP4 Gene

GeneHancer (GH) Regulatory Elements for CDC42EP4 Gene

Promoters and enhancers for CDC42EP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J073303 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658.4 +4.0 4004 9.8 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 MCM3 SP3 FAM104A CDC42EP4 C17orf80 ENSG00000265935 LINC02092 ENSG00000266765 ENSG00000265927 SSTR2 GC17M073290 GC17M073289
GH17J073287 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 18.8 +20.4 20425 7.7 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF143 C17orf80 CDC42EP4 CPSF4L FAM104A GC17P073281 GC17M073290 GC17M073288 GC17M073289
GH17J073474 Enhancer 1.5 FANTOM5 Ensembl ENCODE 19.8 -162.3 -162328 0.9 PKNOX1 SMAD1 ARNT ZNF2 ZNF766 E2F8 FOS REST SMARCA4 GLIS1 CDC42EP4 COG1 SSTR2 C17orf80 GC17M073379 GC17P073491 SDK2
GH17J073091 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.8 +219.8 219761 1.8 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A ZNF2 YY1 POLR2B SLC39A11 CDC42EP4 ATG12P1
GH17J073334 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -27.6 -27641 10.4 ARID4B SIN3A ETS1 ZNF143 ATF7 FOS ZNF592 NFIL3 ATF4 RCOR2 CDC42EP4 SDK2 SSTR2 GC17P073336 GC17M073289
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42EP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDC42EP4 gene promoter:
  • Zic3
  • Nkx2-5
  • Meis-1b
  • Meis-1a
  • Meis-1
  • GATA-1
  • POU3F1
  • GATA-6
  • ATF6
  • NF-kappaB

Genomic Locations for CDC42EP4 Gene

Genomic Locations for CDC42EP4 Gene
chr17:73,283,624-73,312,175
(GRCh38/hg38)
Size:
28,552 bases
Orientation:
Minus strand
chr17:71,279,763-71,308,314
(GRCh37/hg19)
Size:
28,552 bases
Orientation:
Minus strand

Genomic View for CDC42EP4 Gene

Genes around CDC42EP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42EP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42EP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42EP4 Gene

Proteins for CDC42EP4 Gene

  • Protein details for CDC42EP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3Q1-BORG4_HUMAN
    Recommended name:
    Cdc42 effector protein 4
    Protein Accession:
    Q9H3Q1
    Secondary Accessions:
    • B3KUS7
    • O95828
    • Q96FT3

    Protein attributes for CDC42EP4 Gene

    Size:
    356 amino acids
    Molecular mass:
    37980 Da
    Quaternary structure:
    • Interacts with CDC42 and RHOQ, in a GTP-dependent manner.

    Alternative splice isoforms for CDC42EP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDC42EP4 Gene

Post-translational modifications for CDC42EP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDC42EP4 Gene

Antibody Products

No data available for DME Specific Peptides for CDC42EP4 Gene

Domains & Families for CDC42EP4 Gene

Gene Families for CDC42EP4 Gene

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

Protein Domains for CDC42EP4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H3Q1

UniProtKB/Swiss-Prot:

BORG4_HUMAN :
  • Belongs to the BORG/CEP family.
Family:
  • Belongs to the BORG/CEP family.
genes like me logo Genes that share domains with CDC42EP4: view

Function for CDC42EP4 Gene

Molecular function for CDC42EP4 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, when overexpressed in fibroblasts.

Phenotypes From GWAS Catalog for CDC42EP4 Gene

Gene Ontology (GO) - Molecular Function for CDC42EP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0017049 GTP-Rho binding NAS 11035016
genes like me logo Genes that share ontologies with CDC42EP4: view
genes like me logo Genes that share phenotypes with CDC42EP4: view

Animal Models for CDC42EP4 Gene

MGI Knock Outs for CDC42EP4:

Animal Model Products

miRNA for CDC42EP4 Gene

miRTarBase miRNAs that target CDC42EP4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDC42EP4 Gene

Localization for CDC42EP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42EP4 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 CDC42EP4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 3
cytosol 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Microtubules (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42EP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA,IBA --
GO:0005886 plasma membrane IBA,IDA --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with CDC42EP4: view

Pathways & Interactions for CDC42EP4 Gene

genes like me logo Genes that share pathways with CDC42EP4: view

Pathways by source for CDC42EP4 Gene

2 Qiagen pathways for CDC42EP4 Gene

Gene Ontology (GO) - Biological Process for CDC42EP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IDA,IEA 11035016
GO:0030838 positive regulation of actin filament polymerization IBA --
GO:0031274 positive regulation of pseudopodium assembly IDA 11035016
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CDC42EP4: view

No data available for SIGNOR curated interactions for CDC42EP4 Gene

Drugs & Compounds for CDC42EP4 Gene

(1) Drugs for CDC42EP4 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 CDC42EP4: view

Transcripts for CDC42EP4 Gene

mRNA/cDNA for CDC42EP4 Gene

Unigene Clusters for CDC42EP4 Gene

CDC42 effector protein (Rho GTPase binding) 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8
SP1: - - - -
SP2: - - - - - - -
SP3: -
SP4: - - - - -
SP5:
SP6: - - -
SP7: - -

Relevant External Links for CDC42EP4 Gene

GeneLoc Exon Structure for
CDC42EP4
ECgene alternative splicing isoforms for
CDC42EP4

Expression for CDC42EP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42EP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDC42EP4 Gene

This gene is overexpressed in Adrenal (47.7) and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42EP4 Gene



Protein tissue co-expression partners for CDC42EP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42EP4 Gene:

CDC42EP4

SOURCE GeneReport for Unigene cluster for CDC42EP4 Gene:

Hs.3903

mRNA Expression by UniProt/SwissProt for CDC42EP4 Gene:

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

Evidence on tissue expression from TISSUES for CDC42EP4 Gene

  • Nervous system(5)
  • Pancreas(4.6)
  • Eye(4.2)
  • Intestine(4.2)
  • Liver(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with CDC42EP4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42EP4 Gene

Orthologs for CDC42EP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDC42EP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDC42EP4 34 33
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDC42EP4 34 33
  • 84.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc42ep4 16 34 33
  • 82.37 (n)
cow
(Bos Taurus)
Mammalia CDC42EP4 34 33
  • 81.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdc42ep4 33
  • 81.06 (n)
oppossum
(Monodelphis domestica)
Mammalia CDC42EP4 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC42EP4 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC42EP4 34 33
  • 69.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC42EP4 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42ep4 33
  • 62.19 (n)
Str.10016 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16547 33
zebrafish
(Danio rerio)
Actinopterygii cdc42ep4a 34 33
  • 61.95 (n)
OneToMany
cdc42ep4b 34
  • 46 (a)
OneToMany
wufb55a05 33
Species where no ortholog for CDC42EP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDC42EP4 Gene

ENSEMBL:
Gene Tree for CDC42EP4 (if available)
TreeFam:
Gene Tree for CDC42EP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42EP4: view image

Paralogs for CDC42EP4 Gene

Paralogs for CDC42EP4 Gene

(2) SIMAP similar genes for CDC42EP4 Gene using alignment to 6 proteins:

  • BORG4_HUMAN
  • B2R6D8_HUMAN
  • B3KUS7_HUMAN
  • J3KRZ9_HUMAN
  • J3QQS6_HUMAN
  • J3QR93_HUMAN
genes like me logo Genes that share paralogs with CDC42EP4: view

Variants for CDC42EP4 Gene

Sequence variations from dbSNP and Humsavar for CDC42EP4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000004200 -- 73,288,556(-) C/G/T intron_variant
rs1000379924 -- 73,291,834(-) T/C intron_variant
rs1000427596 -- 73,308,784(-) C/T intron_variant
rs1000562866 -- 73,297,869(-) G/A intron_variant
rs1000689724 -- 73,303,729(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDC42EP4 Gene

Variant ID Type Subtype PubMed ID
esv2672949 CNV deletion 23128226
esv3582900 CNV loss 25503493
nsv112181 CNV deletion 16902084
nsv112220 CNV deletion 16902084
nsv833534 CNV loss 17160897

Variation tolerance for CDC42EP4 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42EP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42EP4 Gene

Disorders for CDC42EP4 Gene

Additional Disease Information for CDC42EP4

No disorders were found for CDC42EP4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CDC42EP4 Gene

Publications for CDC42EP4 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 58
  2. Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue. (PMID: 11185749) Osada N … Hashimoto K (Journal of human genetics 2000) 3 4 22 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for CDC42EP4 Gene

Sources for CDC42EP4 Gene

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