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CDC42EP3 (CDC42 effector protein 3)

Identity

Alias_namesCDC42 effector protein (Rho GTPase binding) 3
Alias_symbol (synonym)CEP3
UB1
BORG2
Other alias
HGNC (Hugo) CDC42EP3
LocusID (NCBI) 10602
Atlas_Id 47344
Location 2p22.2  [Link to chromosome band 2p22]
Location_base_pair Starts at 37641882 and ends at 37672535 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDC42EP3 (2p22.2) / CDC42EP3 (2p22.2)CDC42EP3 (2p22.2) / FSCN1 (7p22.1)TTC1 (5q33.3) / CDC42EP3 (2p22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CDC42EP3   16943
Cards
Entrez_Gene (NCBI)CDC42EP3  10602  CDC42 effector protein 3
AliasesBORG2; CEP3; UB1
GeneCards (Weizmann)CDC42EP3
Ensembl hg19 (Hinxton)ENSG00000163171 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163171 [Gene_View]  chr2:37641882-37672535 [Contig_View]  CDC42EP3 [Vega]
ICGC DataPortalENSG00000163171
TCGA cBioPortalCDC42EP3
AceView (NCBI)CDC42EP3
Genatlas (Paris)CDC42EP3
WikiGenes10602
SOURCE (Princeton)CDC42EP3
Genetics Home Reference (NIH)CDC42EP3
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42EP3  -     chr2:37641882-37672535 -  2p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42EP3  -     2p22.2   [Description]    (hg19-Feb_2009)
EnsemblCDC42EP3 - 2p22.2 [CytoView hg19]  CDC42EP3 - 2p22.2 [CytoView hg38]
Mapping of homologs : NCBICDC42EP3 [Mapview hg19]  CDC42EP3 [Mapview hg38]
OMIM606133   
Gene and transcription
Genbank (Entrez)AF094521 AF104857 AF164118 AK055915 AK128735
RefSeq transcript (Entrez)NM_001270436 NM_001270437 NM_001270438 NM_006449
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDC42EP3
Cluster EST : UnigeneHs.369574 [ NCBI ]
CGAP (NCI)Hs.369574
Alternative Splicing GalleryENSG00000163171
Gene ExpressionCDC42EP3 [ NCBI-GEO ]   CDC42EP3 [ EBI - ARRAY_EXPRESS ]   CDC42EP3 [ SEEK ]   CDC42EP3 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42EP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10602
GTEX Portal (Tissue expression)CDC42EP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKI2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKI2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKI2
Splice isoforms : SwissVarQ9UKI2
PhosPhoSitePlusQ9UKI2
Domaine pattern : Prosite (Expaxy)CRIB (PS50108)   
Domains : Interpro (EBI)Cdc42_effect    CRIB_dom   
Domain families : Pfam (Sanger)BORG_CEP (PF14957)    PBD (PF00786)   
Domain families : Pfam (NCBI)pfam14957    pfam00786   
Domain families : Smart (EMBL)PBD (SM00285)  
Conserved Domain (NCBI)CDC42EP3
DMDM Disease mutations10602
Blocks (Seattle)CDC42EP3
SuperfamilyQ9UKI2
Human Protein AtlasENSG00000163171
Peptide AtlasQ9UKI2
HPRD09364
IPIIPI00294391   IPI00894049   IPI00916280   IPI00915887   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKI2
IntAct (EBI)Q9UKI2
FunCoupENSG00000163171
BioGRIDCDC42EP3
STRING (EMBL)CDC42EP3
ZODIACCDC42EP3
Ontologies - Pathways
QuickGOQ9UKI2
Ontology : AmiGOGTPase activator activity  cytoskeletal regulatory protein binding  cytoplasm  cytosol  plasma membrane  signal transduction  Rho protein signal transduction  regulation of cell shape  endomembrane system  actin cytoskeleton  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  cytoskeletal regulatory protein binding  cytoplasm  cytosol  plasma membrane  signal transduction  Rho protein signal transduction  regulation of cell shape  endomembrane system  actin cytoskeleton  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  
NDEx NetworkCDC42EP3
Atlas of Cancer Signalling NetworkCDC42EP3
Wikipedia pathwaysCDC42EP3
Orthology - Evolution
OrthoDB10602
GeneTree (enSembl)ENSG00000163171
Phylogenetic Trees/Animal Genes : TreeFamCDC42EP3
HOVERGENQ9UKI2
HOGENOMQ9UKI2
Homologs : HomoloGeneCDC42EP3
Homology/Alignments : Family Browser (UCSC)CDC42EP3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42EP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42EP3
dbVarCDC42EP3
ClinVarCDC42EP3
1000_GenomesCDC42EP3 
Exome Variant ServerCDC42EP3
ExAC (Exome Aggregation Consortium)CDC42EP3 (select the gene name)
Genetic variants : HAPMAP10602
Genomic Variants (DGV)CDC42EP3 [DGVbeta]
DECIPHERCDC42EP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42EP3 
Mutations
ICGC Data PortalCDC42EP3 
TCGA Data PortalCDC42EP3 
Broad Tumor PortalCDC42EP3
OASIS PortalCDC42EP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42EP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42EP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42EP3
DgiDB (Drug Gene Interaction Database)CDC42EP3
DoCM (Curated mutations)CDC42EP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42EP3 (select a term)
intoGenCDC42EP3
Cancer3DCDC42EP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606133   
Orphanet
MedgenCDC42EP3
Genetic Testing Registry CDC42EP3
NextProtQ9UKI2 [Medical]
TSGene10602
GENETestsCDC42EP3
Target ValidationCDC42EP3
Huge Navigator CDC42EP3 [HugePedia]
snp3D : Map Gene to Disease10602
BioCentury BCIQCDC42EP3
ClinGenCDC42EP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10602
Chemical/Pharm GKB GenePA38429
Clinical trialCDC42EP3
Miscellaneous
canSAR (ICR)CDC42EP3 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42EP3
EVEXCDC42EP3
GoPubMedCDC42EP3
iHOPCDC42EP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:01:31 CEST 2017

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