Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EPS8L2 (EPS8 like 2)

Identity

Alias_namesEPS8-like 2
Alias_symbol (synonym)FLJ21935
FLJ22171
MGC3088
Other aliasDFNB106
EPS8R2
HGNC (Hugo) EPS8L2
LocusID (NCBI) 64787
Atlas_Id 54287
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 706120 and ends at 727727 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)
AP2A2 (11p15.5) / EPS8L2 (11p15.5)CD151 (11p15.5) / EPS8L2 (11p15.5)GDA (9q21.13) / EPS8L2 (11p15.5)
JAM3 (11q25) / EPS8L2 (11p15.5)JMY (5q14.1) / EPS8L2 (11p15.5)TSPAN4 (11p15.5) / EPS8L2 (11p15.5)
AP2A2 11p15.5 / EPS8L2 11p15.5CD151 11p15.5 / EPS8L2 11p15.5TSPAN4 11p15.5 / EPS8L2 11p15.5

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) [ 4 ]
  t(9;11)(q21;p15) GDA/EPS8L2
AP2A2/EPS8L2 (11p15)
CD151/EPS8L2 (11p15)
TSPAN4/EPS8L2 (11p15)

External links

Nomenclature
HGNC (Hugo)EPS8L2   21296
Cards
Entrez_Gene (NCBI)EPS8L2  64787  EPS8 like 2
AliasesDFNB106; EPS8R2
GeneCards (Weizmann)EPS8L2
Ensembl hg19 (Hinxton)ENSG00000177106 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177106 [Gene_View]  ENSG00000177106 [Sequence]  chr11:706120-727727 [Contig_View]  EPS8L2 [Vega]
ICGC DataPortalENSG00000177106
TCGA cBioPortalEPS8L2
AceView (NCBI)EPS8L2
Genatlas (Paris)EPS8L2
WikiGenes64787
SOURCE (Princeton)EPS8L2
Genetics Home Reference (NIH)EPS8L2
Genomic and cartography
GoldenPath hg38 (UCSC)EPS8L2  -     chr11:706120-727727 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPS8L2  -     11p15.5   [Description]    (hg19-Feb_2009)
EPS8L2 - 11p15.5 [CytoView hg19]  EPS8L2 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIEPS8L2 [Mapview hg19]  EPS8L2 [Mapview hg38]
OMIM614988   617637   
Gene and transcription
Genbank (Entrez)AF318331 AK025588 AK025824 AK027765 AK094539
RefSeq transcript (Entrez)NM_022772
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPS8L2
Cluster EST : UnigeneHs.55016 [ NCBI ]
CGAP (NCI)Hs.55016
Alternative Splicing GalleryENSG00000177106
Gene ExpressionEPS8L2 [ NCBI-GEO ]   EPS8L2 [ EBI - ARRAY_EXPRESS ]   EPS8L2 [ SEEK ]   EPS8L2 [ MEM ]
Gene Expression Viewer (FireBrowse)EPS8L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64787
GTEX Portal (Tissue expression)EPS8L2
Human Protein AtlasENSG00000177106-EPS8L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6S3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6S3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6S3
Splice isoforms : SwissVarQ9H6S3
PhosPhoSitePlusQ9H6S3
Domaine pattern : Prosite (Expaxy)PID (PS01179)    SH3 (PS50002)   
Domains : Interpro (EBI)EPS8_PTB    Eps8_SH3    PH-like_dom_sf    PTB    PTB/PI_dom    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)PTB (PF08416)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam08416    pfam00018   
Domain families : Smart (EMBL)PTB (SM00462)  SH3 (SM00326)  
Conserved Domain (NCBI)EPS8L2
DMDM Disease mutations64787
Blocks (Seattle)EPS8L2
PDB (RSDB)1WWU    1WXB   
PDB Europe1WWU    1WXB   
PDB (PDBSum)1WWU    1WXB   
PDB (IMB)1WWU    1WXB   
Structural Biology KnowledgeBase1WWU    1WXB   
SCOP (Structural Classification of Proteins)1WWU    1WXB   
CATH (Classification of proteins structures)1WWU    1WXB   
SuperfamilyQ9H6S3
Human Protein Atlas [tissue]ENSG00000177106-EPS8L2 [tissue]
Peptide AtlasQ9H6S3
HPRD10940
IPIIPI00414315   IPI00759759   IPI00909674   IPI01008779   IPI01018803   IPI00977938   IPI00977007   IPI00984049   IPI00980829   IPI00981914   IPI00976019   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6S3
IntAct (EBI)Q9H6S3
FunCoupENSG00000177106
BioGRIDEPS8L2
STRING (EMBL)EPS8L2
ZODIACEPS8L2
Ontologies - Pathways
QuickGOQ9H6S3
Ontology : AmiGOactin binding  actin binding  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  plasma membrane  Rho protein signal transduction  Rho protein signal transduction  sensory perception of sound  Rac guanyl-nucleotide exchange factor activity  Rac guanyl-nucleotide exchange factor activity  vesicle  stereocilium bundle  stereocilium tip  ruffle membrane  ruffle membrane  protein-containing complex  regulation of Rho protein signal transduction  regulation of Rho protein signal transduction  cadherin binding  extracellular exosome  positive regulation of ruffle assembly  positive regulation of ruffle assembly  
Ontology : EGO-EBIactin binding  actin binding  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  plasma membrane  Rho protein signal transduction  Rho protein signal transduction  sensory perception of sound  Rac guanyl-nucleotide exchange factor activity  Rac guanyl-nucleotide exchange factor activity  vesicle  stereocilium bundle  stereocilium tip  ruffle membrane  ruffle membrane  protein-containing complex  regulation of Rho protein signal transduction  regulation of Rho protein signal transduction  cadherin binding  extracellular exosome  positive regulation of ruffle assembly  positive regulation of ruffle assembly  
NDEx NetworkEPS8L2
Atlas of Cancer Signalling NetworkEPS8L2
Wikipedia pathwaysEPS8L2
Orthology - Evolution
OrthoDB64787
GeneTree (enSembl)ENSG00000177106
Phylogenetic Trees/Animal Genes : TreeFamEPS8L2
HOGENOMQ9H6S3
Homologs : HomoloGeneEPS8L2
Homology/Alignments : Family Browser (UCSC)EPS8L2
Gene fusions - Rearrangements
Fusion : MitelmanAP2A2/EPS8L2 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanCD151/EPS8L2 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanGDA/EPS8L2 [9q21.13/11p15.5]  [t(9;11)(q21;p15)]  
Fusion : MitelmanTSPAN4/EPS8L2 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion PortalAP2A2 11p15.5 EPS8L2 11p15.5 LUSC
Fusion PortalCD151 11p15.5 EPS8L2 11p15.5 BLCA
Fusion PortalTSPAN4 11p15.5 EPS8L2 11p15.5 LUAD
Fusion : QuiverEPS8L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPS8L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS8L2
dbVarEPS8L2
ClinVarEPS8L2
1000_GenomesEPS8L2 
Exome Variant ServerEPS8L2
ExAC (Exome Aggregation Consortium)ENSG00000177106
GNOMAD BrowserENSG00000177106
Varsome BrowserEPS8L2
Genetic variants : HAPMAP64787
Genomic Variants (DGV)EPS8L2 [DGVbeta]
DECIPHEREPS8L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPS8L2 
Mutations
ICGC Data PortalEPS8L2 
TCGA Data PortalEPS8L2 
Broad Tumor PortalEPS8L2
OASIS PortalEPS8L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPS8L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPS8L2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPS8L2
DgiDB (Drug Gene Interaction Database)EPS8L2
DoCM (Curated mutations)EPS8L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPS8L2 (select a term)
intoGenEPS8L2
Cancer3DEPS8L2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614988    617637   
Orphanet
DisGeNETEPS8L2
MedgenEPS8L2
Genetic Testing Registry EPS8L2
NextProtQ9H6S3 [Medical]
TSGene64787
GENETestsEPS8L2
Target ValidationEPS8L2
Huge Navigator EPS8L2 [HugePedia]
snp3D : Map Gene to Disease64787
BioCentury BCIQEPS8L2
ClinGenEPS8L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64787
Chemical/Pharm GKB GenePA134981048
Clinical trialEPS8L2
Miscellaneous
canSAR (ICR)EPS8L2 (select the gene name)
DataMed IndexEPS8L2
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPS8L2
EVEXEPS8L2
GoPubMedEPS8L2
iHOPEPS8L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 21 15:45:18 CET 2019
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.