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EPB41L2 (erythrocyte membrane protein band 4.1 like 2)

Identity

Alias_symbol (synonym)4.1-G
Other alias4.1G
HGNC (Hugo) EPB41L2
LocusID (NCBI) 2037
Atlas_Id 62854
Location 6q23.1  [Link to chromosome band 6q23]
Location_base_pair Starts at 130839348 and ends at 131063322 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)
ARHGAP32 (11q24.3) / EPB41L2 (6q23.1)BPTF (17q24.2) / EPB41L2 (6q23.1)DEDD2 (19q13.2) / EPB41L2 (6q23.1)
DOT1L (19p13.3) / EPB41L2 (6q23.1)EPB41L2 (6q23.1) / LAMA2 (6q22.33)EPB41L2 (6q23.1) / LARP1 (5q33.2)
EPB41L2 (6q23.1) / RXRG (1q23.3)EPB41L2 (6q23.1) / SON (21q22.11)GPR156 (3q13.33) / EPB41L2 (6q23.1)
DOT1L EPB41L2GPR156 EPB41L2

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) [ 3 ]
  t(3;6)(q13;q23) GPR156/EPB41L2
t(6;6)(q22;q23) EPB41L2/LAMA2
t(6;19)(q23;p13) DOT1L/EPB41L2


External links

Nomenclature
HGNC (Hugo)EPB41L2   3379
Cards
Entrez_Gene (NCBI)EPB41L2  2037  erythrocyte membrane protein band 4.1 like 2
Aliases4.1-G; 4.1G
GeneCards (Weizmann)EPB41L2
Ensembl hg19 (Hinxton)ENSG00000079819 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079819 [Gene_View]  ENSG00000079819 [Sequence]  chr6:130839348-131063322 [Contig_View]  EPB41L2 [Vega]
ICGC DataPortalENSG00000079819
TCGA cBioPortalEPB41L2
AceView (NCBI)EPB41L2
Genatlas (Paris)EPB41L2
WikiGenes2037
SOURCE (Princeton)EPB41L2
Genetics Home Reference (NIH)EPB41L2
Genomic and cartography
GoldenPath hg38 (UCSC)EPB41L2  -     chr6:130839348-131063322 -  6q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPB41L2  -     6q23.1   [Description]    (hg19-Feb_2009)
EnsemblEPB41L2 - 6q23.1 [CytoView hg19]  EPB41L2 - 6q23.1 [CytoView hg38]
Mapping of homologs : NCBIEPB41L2 [Mapview hg19]  EPB41L2 [Mapview hg38]
OMIM603237   
Gene and transcription
Genbank (Entrez)AA428071 AB209522 AF027299 AF054999 AJ251209
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB41L2
Cluster EST : UnigeneHs.708219 [ NCBI ]
CGAP (NCI)Hs.708219
Alternative Splicing GalleryENSG00000079819
Gene ExpressionEPB41L2 [ NCBI-GEO ]   EPB41L2 [ EBI - ARRAY_EXPRESS ]   EPB41L2 [ SEEK ]   EPB41L2 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2037
GTEX Portal (Tissue expression)EPB41L2
Human Protein AtlasENSG00000079819-EPB41L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43491   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43491  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43491
Splice isoforms : SwissVarO43491
PhosPhoSitePlusO43491
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_4.1_C    Band_41_domain    E41L2    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    SAB_dom    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)4_1_CTD (PF05902)    FA (PF08736)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)    SAB (PF04382)   
Domain families : Pfam (NCBI)pfam05902    pfam08736    pfam09380    pfam00373    pfam09379    pfam04382   
Domain families : Smart (EMBL)B41 (SM00295)  FA (SM01195)  FERM_C (SM01196)  
Conserved Domain (NCBI)EPB41L2
DMDM Disease mutations2037
Blocks (Seattle)EPB41L2
SuperfamilyO43491
Human Protein Atlas [tissue]ENSG00000079819-EPB41L2 [tissue]
Peptide AtlasO43491
HPRD09126
IPIIPI00015973   IPI00022133   IPI00984820   IPI00556351   IPI00788953   IPI00984894   IPI00975921   IPI00985486   IPI00983432   IPI00976328   IPI00444820   IPI00981072   IPI00976958   IPI00983091   IPI00981766   IPI00975635   IPI00976598   IPI00977096   IPI00977993   IPI00977299   
Protein Interaction databases
DIP (DOE-UCLA)O43491
IntAct (EBI)O43491
FunCoupENSG00000079819
BioGRIDEPB41L2
STRING (EMBL)EPB41L2
ZODIACEPB41L2
Ontologies - Pathways
QuickGOO43491
Ontology : AmiGO###############################################################################################################################################################################################################################################################                                  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                                  
Pathways : KEGGTight junction   
NDEx NetworkEPB41L2
Atlas of Cancer Signalling NetworkEPB41L2
Wikipedia pathwaysEPB41L2
Orthology - Evolution
OrthoDB2037
GeneTree (enSembl)ENSG00000079819
Phylogenetic Trees/Animal Genes : TreeFamEPB41L2
HOVERGENO43491
HOGENOMO43491
Homologs : HomoloGeneEPB41L2
Homology/Alignments : Family Browser (UCSC)EPB41L2
Gene fusions - Rearrangements
Fusion PortalDOT1L EPB41L2
Fusion PortalGPR156 EPB41L2
Fusion : QuiverEPB41L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41L2
dbVarEPB41L2
ClinVarEPB41L2
1000_GenomesEPB41L2 
Exome Variant ServerEPB41L2
ExAC (Exome Aggregation Consortium)ENSG00000079819
GNOMAD BrowserENSG00000079819
Varsome BrowserEPB41L2
Genetic variants : HAPMAP2037
Genomic Variants (DGV)EPB41L2 [DGVbeta]
DECIPHEREPB41L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPB41L2 
Mutations
ICGC Data PortalEPB41L2 
TCGA Data PortalEPB41L2 
Broad Tumor PortalEPB41L2
OASIS PortalEPB41L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB41L2
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 EPB41L2
DgiDB (Drug Gene Interaction Database)EPB41L2
DoCM (Curated mutations)EPB41L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41L2 (select a term)
intoGenEPB41L2
Cancer3DEPB41L2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603237   
Orphanet
DisGeNETEPB41L2
MedgenEPB41L2
Genetic Testing Registry EPB41L2
NextProtO43491 [Medical]
TSGene2037
GENETestsEPB41L2
Target ValidationEPB41L2
Huge Navigator EPB41L2 [HugePedia]
snp3D : Map Gene to Disease2037
BioCentury BCIQEPB41L2
ClinGenEPB41L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2037
Chemical/Pharm GKB GenePA27812
Clinical trialEPB41L2
Miscellaneous
canSAR (ICR)EPB41L2 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41L2
EVEXEPB41L2
GoPubMedEPB41L2
iHOPEPB41L2
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 : Mon Jul 30 13:43:59 CEST 2018

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