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CDC42EP2 (CDC42 effector protein 2)

Identity

Alias_namesCDC42 effector protein (Rho GTPase binding) 2
Alias_symbol (synonym)CEP2
BORG1
Other alias
HGNC (Hugo) CDC42EP2
LocusID (NCBI) 10435
Atlas_Id 46068
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65314818 and ends at 65322429 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
POLA2 (11q13.1) / CDC42EP2 (11q13.1)

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)CDC42EP2   16263
Cards
Entrez_Gene (NCBI)CDC42EP2  10435  CDC42 effector protein 2
AliasesBORG1; CEP2
GeneCards (Weizmann)CDC42EP2
Ensembl hg19 (Hinxton)ENSG00000149798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149798 [Gene_View]  chr11:65314818-65322429 [Contig_View]  CDC42EP2 [Vega]
ICGC DataPortalENSG00000149798
TCGA cBioPortalCDC42EP2
AceView (NCBI)CDC42EP2
Genatlas (Paris)CDC42EP2
WikiGenes10435
SOURCE (Princeton)CDC42EP2
Genetics Home Reference (NIH)CDC42EP2
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42EP2  -     chr11:65314818-65322429 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42EP2  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblCDC42EP2 - 11q13.1 [CytoView hg19]  CDC42EP2 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBICDC42EP2 [Mapview hg19]  CDC42EP2 [Mapview hg38]
OMIM606132   
Gene and transcription
Genbank (Entrez)AF001436 AF098290 AF163840 AK098292 AK315444
RefSeq transcript (Entrez)NM_006779
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDC42EP2
Cluster EST : UnigeneHs.343380 [ NCBI ]
CGAP (NCI)Hs.343380
Alternative Splicing GalleryENSG00000149798
Gene ExpressionCDC42EP2 [ NCBI-GEO ]   CDC42EP2 [ EBI - ARRAY_EXPRESS ]   CDC42EP2 [ SEEK ]   CDC42EP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42EP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10435
GTEX Portal (Tissue expression)CDC42EP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14613   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14613  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14613
Splice isoforms : SwissVarO14613
PhosPhoSitePlusO14613
Domaine pattern : Prosite (Expaxy)CRIB (PS50108)   
Domains : Interpro (EBI)Cdc42_effect    Cdc42_effector_prot_2    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)CDC42EP2
DMDM Disease mutations10435
Blocks (Seattle)CDC42EP2
SuperfamilyO14613
Human Protein AtlasENSG00000149798
Peptide AtlasO14613
HPRD09363
IPIIPI00009533   
Protein Interaction databases
DIP (DOE-UCLA)O14613
IntAct (EBI)O14613
FunCoupENSG00000149798
BioGRIDCDC42EP2
STRING (EMBL)CDC42EP2
ZODIACCDC42EP2
Ontologies - Pathways
QuickGOO14613
Ontology : AmiGOopioid peptide activity  GTPase activator activity  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  actin filament organization  Rho protein signal transduction  regulation of cell shape  endomembrane system  microtubule cytoskeleton  membrane  GTP-Rho binding  actin cytoskeleton organization  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of protein complex assembly  positive regulation of GTPase activity  
Ontology : EGO-EBIopioid peptide activity  GTPase activator activity  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  actin filament organization  Rho protein signal transduction  regulation of cell shape  endomembrane system  microtubule cytoskeleton  membrane  GTP-Rho binding  actin cytoskeleton organization  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of protein complex assembly  positive regulation of GTPase activity  
NDEx NetworkCDC42EP2
Atlas of Cancer Signalling NetworkCDC42EP2
Wikipedia pathwaysCDC42EP2
Orthology - Evolution
OrthoDB10435
GeneTree (enSembl)ENSG00000149798
Phylogenetic Trees/Animal Genes : TreeFamCDC42EP2
HOVERGENO14613
HOGENOMO14613
Homologs : HomoloGeneCDC42EP2
Homology/Alignments : Family Browser (UCSC)CDC42EP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42EP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42EP2
dbVarCDC42EP2
ClinVarCDC42EP2
1000_GenomesCDC42EP2 
Exome Variant ServerCDC42EP2
ExAC (Exome Aggregation Consortium)CDC42EP2 (select the gene name)
Genetic variants : HAPMAP10435
Genomic Variants (DGV)CDC42EP2 [DGVbeta]
DECIPHERCDC42EP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42EP2 
Mutations
ICGC Data PortalCDC42EP2 
TCGA Data PortalCDC42EP2 
Broad Tumor PortalCDC42EP2
OASIS PortalCDC42EP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42EP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42EP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42EP2
DgiDB (Drug Gene Interaction Database)CDC42EP2
DoCM (Curated mutations)CDC42EP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42EP2 (select a term)
intoGenCDC42EP2
Cancer3DCDC42EP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606132   
Orphanet
MedgenCDC42EP2
Genetic Testing Registry CDC42EP2
NextProtO14613 [Medical]
TSGene10435
GENETestsCDC42EP2
Target ValidationCDC42EP2
Huge Navigator CDC42EP2 [HugePedia]
snp3D : Map Gene to Disease10435
BioCentury BCIQCDC42EP2
ClinGenCDC42EP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10435
Chemical/Pharm GKB GenePA38396
Clinical trialCDC42EP2
Miscellaneous
canSAR (ICR)CDC42EP2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42EP2
EVEXCDC42EP2
GoPubMedCDC42EP2
iHOPCDC42EP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:27:36 CEST 2017

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