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CDC42SE2 (CDC42 small effector 2)

Identity

Alias_symbol (synonym)FLJ21967
SPEC2
Other alias
HGNC (Hugo) CDC42SE2
LocusID (NCBI) 56990
Atlas_Id 53612
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 131264009 and ends at 131394689 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARL15 (5q11.2) / CDC42SE2 (5q23.3)CDC42SE2 (5q23.3) / CDC42SE2 (5q23.3)CDC42SE2 (5q23.3) / SPIDR (8q11.21)
KMT2A (11q23.3) / CDC42SE2 (5q23.3)ARL15 5q11.2 / CDC42SE2 5q23.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;5)(q11;q23) ARL15/CDC42SE2
t(5;8)(q23;q11) CDC42SE2/SPIDR


External links

Nomenclature
HGNC (Hugo)CDC42SE2   18547
Cards
Entrez_Gene (NCBI)CDC42SE2  56990  CDC42 small effector 2
AliasesSPEC2
GeneCards (Weizmann)CDC42SE2
Ensembl hg19 (Hinxton)ENSG00000158985 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158985 [Gene_View]  ENSG00000158985 [Sequence]  chr5:131264009-131394689 [Contig_View]  CDC42SE2 [Vega]
ICGC DataPortalENSG00000158985
TCGA cBioPortalCDC42SE2
AceView (NCBI)CDC42SE2
Genatlas (Paris)CDC42SE2
WikiGenes56990
SOURCE (Princeton)CDC42SE2
Genetics Home Reference (NIH)CDC42SE2
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42SE2  -     chr5:131264009-131394689 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42SE2  -     5q31.1   [Description]    (hg19-Feb_2009)
EnsemblCDC42SE2 - 5q31.1 [CytoView hg19]  CDC42SE2 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBICDC42SE2 [Mapview hg19]  CDC42SE2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF131831 AF189692 AI440226 AK025620 AK312406
RefSeq transcript (Entrez)NM_001038702 NM_020240
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDC42SE2
Cluster EST : UnigeneHs.713870 [ NCBI ]
CGAP (NCI)Hs.713870
Alternative Splicing GalleryENSG00000158985
Gene ExpressionCDC42SE2 [ NCBI-GEO ]   CDC42SE2 [ EBI - ARRAY_EXPRESS ]   CDC42SE2 [ SEEK ]   CDC42SE2 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42SE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56990
GTEX Portal (Tissue expression)CDC42SE2
Human Protein AtlasENSG00000158985-CDC42SE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRR3
Splice isoforms : SwissVarQ9NRR3
PhosPhoSitePlusQ9NRR3
Domaine pattern : Prosite (Expaxy)CRIB (PS50108)   
Domains : Interpro (EBI)CRIB_dom    CRIB_dom_sf   
Domain families : Pfam (Sanger)PBD (PF00786)   
Domain families : Pfam (NCBI)pfam00786   
Conserved Domain (NCBI)CDC42SE2
DMDM Disease mutations56990
Blocks (Seattle)CDC42SE2
SuperfamilyQ9NRR3
Human Protein Atlas [tissue]ENSG00000158985-CDC42SE2 [tissue]
Peptide AtlasQ9NRR3
HPRD16695
IPIIPI00024973   IPI00965381   IPI00965816   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRR3
IntAct (EBI)Q9NRR3
FunCoupENSG00000158985
BioGRIDCDC42SE2
STRING (EMBL)CDC42SE2
ZODIACCDC42SE2
Ontologies - Pathways
QuickGOQ9NRR3
Ontology : AmiGOphagocytic cup  structural molecule activity  structural molecule activity  protein binding  cytoplasm  cytoskeleton  plasma membrane  plasma membrane  phagocytosis  regulation of cell shape  regulation of signal transduction  Rho GTPase binding  regulation of Rho protein signal transduction  cell projection  
Ontology : EGO-EBIphagocytic cup  structural molecule activity  structural molecule activity  protein binding  cytoplasm  cytoskeleton  plasma membrane  plasma membrane  phagocytosis  regulation of cell shape  regulation of signal transduction  Rho GTPase binding  regulation of Rho protein signal transduction  cell projection  
NDEx NetworkCDC42SE2
Atlas of Cancer Signalling NetworkCDC42SE2
Wikipedia pathwaysCDC42SE2
Orthology - Evolution
OrthoDB56990
GeneTree (enSembl)ENSG00000158985
Phylogenetic Trees/Animal Genes : TreeFamCDC42SE2
HOGENOMQ9NRR3
Homologs : HomoloGeneCDC42SE2
Homology/Alignments : Family Browser (UCSC)CDC42SE2
Gene fusions - Rearrangements
Fusion : MitelmanARL15/CDC42SE2 [5q11.2/5q23.3]  [t(5;5)(q11;q23)]  
Fusion : MitelmanCDC42SE2/SPIDR [5q23.3/8q11.21]  [t(5;8)(q23;q11)]  
Fusion PortalARL15 5q11.2 CDC42SE2 5q23.3 BRCA
Fusion : QuiverCDC42SE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42SE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42SE2
dbVarCDC42SE2
ClinVarCDC42SE2
1000_GenomesCDC42SE2 
Exome Variant ServerCDC42SE2
ExAC (Exome Aggregation Consortium)ENSG00000158985
GNOMAD BrowserENSG00000158985
Varsome BrowserCDC42SE2
Genetic variants : HAPMAP56990
Genomic Variants (DGV)CDC42SE2 [DGVbeta]
DECIPHERCDC42SE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42SE2 
Mutations
ICGC Data PortalCDC42SE2 
TCGA Data PortalCDC42SE2 
Broad Tumor PortalCDC42SE2
OASIS PortalCDC42SE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42SE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42SE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42SE2
DgiDB (Drug Gene Interaction Database)CDC42SE2
DoCM (Curated mutations)CDC42SE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42SE2 (select a term)
intoGenCDC42SE2
Cancer3DCDC42SE2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETCDC42SE2
MedgenCDC42SE2
Genetic Testing Registry CDC42SE2
NextProtQ9NRR3 [Medical]
TSGene56990
GENETestsCDC42SE2
Target ValidationCDC42SE2
Huge Navigator CDC42SE2 [HugePedia]
snp3D : Map Gene to Disease56990
BioCentury BCIQCDC42SE2
ClinGenCDC42SE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56990
Chemical/Pharm GKB GenePA133787056
Clinical trialCDC42SE2
Miscellaneous
canSAR (ICR)CDC42SE2 (select the gene name)
DataMed IndexCDC42SE2
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42SE2
EVEXCDC42SE2
GoPubMedCDC42SE2
iHOPCDC42SE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 17 18:05:31 CET 2019

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