Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EPB41L5 (erythrocyte membrane protein band 4.1 like 5)

Identity

Alias_symbol (synonym)KIAA1548
FLJ12957
BE37
YMO1
YRT
Other alias
HGNC (Hugo) EPB41L5
LocusID (NCBI) 57669
Atlas_Id 51521
Location 2q14.2  [Link to chromosome band 2q14]
Location_base_pair Starts at 120013028 and ends at 120179121 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPB41L5 (2q14.2) / EPB41L5 (2q14.2)EPB41L5 (2q14.2) / SGMS1 (10q11.23)ZDHHC5 (11q12.1) / EPB41L5 (2q14.2)

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)EPB41L5   19819
Cards
Entrez_Gene (NCBI)EPB41L5  57669  erythrocyte membrane protein band 4.1 like 5
AliasesBE37; YMO1; YRT
GeneCards (Weizmann)EPB41L5
Ensembl hg19 (Hinxton)ENSG00000115109 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115109 [Gene_View]  chr2:120013028-120179121 [Contig_View]  EPB41L5 [Vega]
ICGC DataPortalENSG00000115109
TCGA cBioPortalEPB41L5
AceView (NCBI)EPB41L5
Genatlas (Paris)EPB41L5
WikiGenes57669
SOURCE (Princeton)EPB41L5
Genetics Home Reference (NIH)EPB41L5
Genomic and cartography
GoldenPath hg38 (UCSC)EPB41L5  -     chr2:120013028-120179121 +  2q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPB41L5  -     2q14.2   [Description]    (hg19-Feb_2009)
EnsemblEPB41L5 - 2q14.2 [CytoView hg19]  EPB41L5 - 2q14.2 [CytoView hg38]
Mapping of homologs : NCBIEPB41L5 [Mapview hg19]  EPB41L5 [Mapview hg38]
OMIM611730   
Gene and transcription
Genbank (Entrez)AB046768 AK023019 AK290895 AK304831 AK307458
RefSeq transcript (Entrez)NM_001184937 NM_001184938 NM_001184939 NM_001330307 NM_001330310 NM_020909
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB41L5
Cluster EST : UnigeneHs.733250 [ NCBI ]
CGAP (NCI)Hs.733250
Alternative Splicing GalleryENSG00000115109
Gene ExpressionEPB41L5 [ NCBI-GEO ]   EPB41L5 [ EBI - ARRAY_EXPRESS ]   EPB41L5 [ SEEK ]   EPB41L5 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41L5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57669
GTEX Portal (Tissue expression)EPB41L5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCM4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCM4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCM4
Splice isoforms : SwissVarQ9HCM4
PhosPhoSitePlusQ9HCM4
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band4.1-like5    Band_41_domain    Ez/rad/moesin-like    FERM-adjacent    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    PH_dom-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FA (PF08736)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam08736    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  FA (SM01195)  FERM_C (SM01196)  
Conserved Domain (NCBI)EPB41L5
DMDM Disease mutations57669
Blocks (Seattle)EPB41L5
SuperfamilyQ9HCM4
Human Protein AtlasENSG00000115109
Peptide AtlasQ9HCM4
HPRD13273
IPIIPI00376221   IPI00217841   IPI00890731   IPI00890719   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCM4
IntAct (EBI)Q9HCM4
FunCoupENSG00000115109
BioGRIDEPB41L5
STRING (EMBL)EPB41L5
ZODIACEPB41L5
Ontologies - Pathways
QuickGOQ9HCM4
Ontology : AmiGOin utero embryonic development  epithelial to mesenchymal transition  neural plate morphogenesis  apical constriction  structural constituent of cytoskeleton  cytosol  cytoskeleton  plasma membrane  focal adhesion  substrate-dependent cell migration, cell attachment to substrate  ectoderm development  endoderm development  mesoderm migration involved in gastrulation  cytoskeletal protein binding  unidimensional cell growth  posttranscriptional regulation of gene expression  positive regulation of epithelial cell migration  positive regulation of epithelial to mesenchymal transition  extrinsic component of membrane  protein domain specific binding  negative regulation of cell-cell adhesion  actomyosin structure organization  negative regulation of protein binding  positive regulation of protein binding  somite rostral/caudal axis specification  ruffle membrane  axial mesoderm morphogenesis  paraxial mesoderm development  embryonic foregut morphogenesis  positive regulation of focal adhesion assembly  regulation of establishment of protein localization  left/right axis specification  cellular response to transforming growth factor beta stimulus  
Ontology : EGO-EBIin utero embryonic development  epithelial to mesenchymal transition  neural plate morphogenesis  apical constriction  structural constituent of cytoskeleton  cytosol  cytoskeleton  plasma membrane  focal adhesion  substrate-dependent cell migration, cell attachment to substrate  ectoderm development  endoderm development  mesoderm migration involved in gastrulation  cytoskeletal protein binding  unidimensional cell growth  posttranscriptional regulation of gene expression  positive regulation of epithelial cell migration  positive regulation of epithelial to mesenchymal transition  extrinsic component of membrane  protein domain specific binding  negative regulation of cell-cell adhesion  actomyosin structure organization  negative regulation of protein binding  positive regulation of protein binding  somite rostral/caudal axis specification  ruffle membrane  axial mesoderm morphogenesis  paraxial mesoderm development  embryonic foregut morphogenesis  positive regulation of focal adhesion assembly  regulation of establishment of protein localization  left/right axis specification  cellular response to transforming growth factor beta stimulus  
NDEx NetworkEPB41L5
Atlas of Cancer Signalling NetworkEPB41L5
Wikipedia pathwaysEPB41L5
Orthology - Evolution
OrthoDB57669
GeneTree (enSembl)ENSG00000115109
Phylogenetic Trees/Animal Genes : TreeFamEPB41L5
HOVERGENQ9HCM4
HOGENOMQ9HCM4
Homologs : HomoloGeneEPB41L5
Homology/Alignments : Family Browser (UCSC)EPB41L5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41L5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41L5
dbVarEPB41L5
ClinVarEPB41L5
1000_GenomesEPB41L5 
Exome Variant ServerEPB41L5
ExAC (Exome Aggregation Consortium)EPB41L5 (select the gene name)
Genetic variants : HAPMAP57669
Genomic Variants (DGV)EPB41L5 [DGVbeta]
DECIPHEREPB41L5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPB41L5 
Mutations
ICGC Data PortalEPB41L5 
TCGA Data PortalEPB41L5 
Broad Tumor PortalEPB41L5
OASIS PortalEPB41L5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41L5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB41L5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPB41L5
DgiDB (Drug Gene Interaction Database)EPB41L5
DoCM (Curated mutations)EPB41L5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41L5 (select a term)
intoGenEPB41L5
Cancer3DEPB41L5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611730   
Orphanet
MedgenEPB41L5
Genetic Testing Registry EPB41L5
NextProtQ9HCM4 [Medical]
TSGene57669
GENETestsEPB41L5
Huge Navigator EPB41L5 [HugePedia]
snp3D : Map Gene to Disease57669
BioCentury BCIQEPB41L5
ClinGenEPB41L5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57669
Chemical/Pharm GKB GenePA134862834
Clinical trialEPB41L5
Miscellaneous
canSAR (ICR)EPB41L5 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41L5
EVEXEPB41L5
GoPubMedEPB41L5
iHOPEPB41L5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:14:46 CEST 2017

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