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CDC42EP4 (CDC42 effector protein (Rho GTPase binding) 4)

Identity

Alias_namesCDC42 effector protein (Rho GTPase binding) 4
Alias_symbol (synonym)CEP4
KAIA1777
BORG4
MGC3740
MGC17125
Other alias
HGNC (Hugo) CDC42EP4
LocusID (NCBI) 23580
Atlas_Id 61639
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 71279763 and ends at 71308143 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDC42EP4 (17q25.1) / NEUROD2 (17q12)CDC42EP4 (17q25.1) / SDK2 (17q25.1)CDC42EP4 (17q25.1) / SEPT10 (2q13)
KLK3 (19q13.33) / CDC42EP4 (17q25.1)VMP1 (17q23.1) / CDC42EP4 (17q25.1)WIPF2 (17q21.1) / CDC42EP4 (17q25.1)
CDC42EP4 SDK2CDC42EP4 NEUROD2CDC42EP4 SEPT10
VMP1 CDC42EP4WIPF2 CDC42EP4

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)CDC42EP4   17147
Cards
Entrez_Gene (NCBI)CDC42EP4  23580  CDC42 effector protein (Rho GTPase binding) 4
AliasesBORG4; CEP4; KAIA1777
GeneCards (Weizmann)CDC42EP4
Ensembl hg19 (Hinxton)ENSG00000179604 [Gene_View]  chr17:71279763-71308143 [Contig_View]  CDC42EP4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000179604 [Gene_View]  chr17:71279763-71308143 [Contig_View]  CDC42EP4 [Vega]
ICGC DataPortalENSG00000179604
TCGA cBioPortalCDC42EP4
AceView (NCBI)CDC42EP4
Genatlas (Paris)CDC42EP4
WikiGenes23580
SOURCE (Princeton)CDC42EP4
Genetics Home Reference (NIH)CDC42EP4
Genomic and cartography
GoldenPath hg19 (UCSC)CDC42EP4  -     chr17:71279763-71308143 -  17q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CDC42EP4  -     17q25.1   [Description]    (hg38-Dec_2013)
EnsemblCDC42EP4 - 17q25.1 [CytoView hg19]  CDC42EP4 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBICDC42EP4 [Mapview hg19]  CDC42EP4 [Mapview hg38]
OMIM605468   
Gene and transcription
Genbank (Entrez)AB042237 AF099664 AK027385 AK097835 AK312536
RefSeq transcript (Entrez)NM_012121
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)CDC42EP4
Cluster EST : UnigeneHs.3903 [ NCBI ]
CGAP (NCI)Hs.3903
Alternative Splicing GalleryENSG00000179604
Gene ExpressionCDC42EP4 [ NCBI-GEO ]   CDC42EP4 [ EBI - ARRAY_EXPRESS ]   CDC42EP4 [ SEEK ]   CDC42EP4 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42EP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23580
GTEX Portal (Tissue expression)CDC42EP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3Q1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3Q1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3Q1
Splice isoforms : SwissVarQ9H3Q1
PhosPhoSitePlusQ9H3Q1
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   
Conserved Domain (NCBI)CDC42EP4
DMDM Disease mutations23580
Blocks (Seattle)CDC42EP4
SuperfamilyQ9H3Q1
Human Protein AtlasENSG00000179604
Peptide AtlasQ9H3Q1
HPRD08383
IPIIPI00015894   IPI00902538   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3Q1
IntAct (EBI)Q9H3Q1
FunCoupENSG00000179604
BioGRIDCDC42EP4
STRING (EMBL)CDC42EP4
ZODIACCDC42EP4
Ontologies - Pathways
QuickGOQ9H3Q1
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  plasma membrane  Rho protein signal transduction  regulation of cell shape  endomembrane system  actin cytoskeleton  microtubule cytoskeleton  GTP-Rho binding  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  poly(A) RNA binding  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  plasma membrane  Rho protein signal transduction  regulation of cell shape  endomembrane system  actin cytoskeleton  microtubule cytoskeleton  GTP-Rho binding  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  poly(A) RNA binding  
NDEx NetworkCDC42EP4
Atlas of Cancer Signalling NetworkCDC42EP4
Wikipedia pathwaysCDC42EP4
Orthology - Evolution
OrthoDB23580
GeneTree (enSembl)ENSG00000179604
Phylogenetic Trees/Animal Genes : TreeFamCDC42EP4
HOVERGENQ9H3Q1
HOGENOMQ9H3Q1
Homologs : HomoloGeneCDC42EP4
Homology/Alignments : Family Browser (UCSC)CDC42EP4
Gene fusions - Rearrangements
Fusion: TCGACDC42EP4 SDK2
Fusion: TCGACDC42EP4 NEUROD2
Fusion: TCGACDC42EP4 SEPT10
Fusion: TCGAVMP1 CDC42EP4
Fusion: TCGAWIPF2 CDC42EP4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42EP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42EP4
dbVarCDC42EP4
ClinVarCDC42EP4
1000_GenomesCDC42EP4 
Exome Variant ServerCDC42EP4
ExAC (Exome Aggregation Consortium)CDC42EP4 (select the gene name)
Genetic variants : HAPMAP23580
Genomic Variants (DGV)CDC42EP4 [DGVbeta]
DECIPHER (Syndromes)17:71279763-71308143  ENSG00000179604
CONAN: Copy Number AnalysisCDC42EP4 
Mutations
ICGC Data PortalCDC42EP4 
TCGA Data PortalCDC42EP4 
Broad Tumor PortalCDC42EP4
OASIS PortalCDC42EP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42EP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42EP4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42EP4
DgiDB (Drug Gene Interaction Database)CDC42EP4
DoCM (Curated mutations)CDC42EP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42EP4 (select a term)
intoGenCDC42EP4
Cancer3DCDC42EP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605468   
Orphanet
MedgenCDC42EP4
Genetic Testing Registry CDC42EP4
NextProtQ9H3Q1 [Medical]
TSGene23580
GENETestsCDC42EP4
Huge Navigator CDC42EP4 [HugePedia]
snp3D : Map Gene to Disease23580
BioCentury BCIQCDC42EP4
ClinGenCDC42EP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23580
Chemical/Pharm GKB GenePA38439
Clinical trialCDC42EP4
Miscellaneous
canSAR (ICR)CDC42EP4 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42EP4
EVEXCDC42EP4
GoPubMedCDC42EP4
iHOPCDC42EP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:58:52 CET 2017

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