Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EPB41L4B (erythrocyte membrane protein band 4.1 like 4B)

Identity

Alias_symbol (synonym)EHM2
Other aliasCG1
HGNC (Hugo) EPB41L4B
LocusID (NCBI) 54566
Atlas_Id 40459
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 112002007 and ends at 112083244 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC146 (7q11.23) / EPB41L4B (9q31.3)EPB41L4B (9q31.3) / AP3B1 (5q14.1)EPB41L4B (9q31.3) / PTPN3 (9q31.3)
EPB41L4B (9q31.3) / UBE2R2 (9p13.3)TRAF2 (9q34.3) / EPB41L4B (9q31.3)EPB41L4B 9q31.3 / PTPN3 9q31.3

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

 


External links

Nomenclature
HGNC (Hugo)EPB41L4B   19818
Cards
Entrez_Gene (NCBI)EPB41L4B  54566  erythrocyte membrane protein band 4.1 like 4B
AliasesCG1; EHM2
GeneCards (Weizmann)EPB41L4B
Ensembl hg19 (Hinxton)ENSG00000095203 [Gene_View]  chr9:112002007-112083244 [Contig_View]  EPB41L4B [Vega]
Ensembl hg38 (Hinxton)ENSG00000095203 [Gene_View]  chr9:112002007-112083244 [Contig_View]  EPB41L4B [Vega]
ICGC DataPortalENSG00000095203
TCGA cBioPortalEPB41L4B
AceView (NCBI)EPB41L4B
Genatlas (Paris)EPB41L4B
WikiGenes54566
SOURCE (Princeton)EPB41L4B
Genetics Home Reference (NIH)EPB41L4B
Genomic and cartography
GoldenPath hg19 (UCSC)EPB41L4B  -     chr9:112002007-112083244 -  9q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPB41L4B  -     9q31.3   [Description]    (hg38-Dec_2013)
EnsemblEPB41L4B - 9q31.3 [CytoView hg19]  EPB41L4B - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIEPB41L4B [Mapview hg19]  EPB41L4B [Mapview hg38]
OMIM610340   
Gene and transcription
Genbank (Entrez)AA588823 AB032179 AB209187 AF153416 AF153418
RefSeq transcript (Entrez)NM_018424 NM_019114
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)EPB41L4B
Cluster EST : UnigeneHs.591901 [ NCBI ]
CGAP (NCI)Hs.591901
Alternative Splicing GalleryENSG00000095203
Gene ExpressionEPB41L4B [ NCBI-GEO ]   EPB41L4B [ EBI - ARRAY_EXPRESS ]   EPB41L4B [ SEEK ]   EPB41L4B [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41L4B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54566
GTEX Portal (Tissue expression)EPB41L4B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H329   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H329  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H329
Splice isoforms : SwissVarQ9H329
PhosPhoSitePlusQ9H329
Domaine pattern : Prosite (Expaxy)FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band4.1-like4B    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)  
Conserved Domain (NCBI)EPB41L4B
DMDM Disease mutations54566
Blocks (Seattle)EPB41L4B
SuperfamilyQ9H329
Human Protein AtlasENSG00000095203
Peptide AtlasQ9H329
HPRD09940
IPIIPI00152953   IPI00100362   IPI00874276   IPI00015743   IPI00102391   
Protein Interaction databases
DIP (DOE-UCLA)Q9H329
IntAct (EBI)Q9H329
FunCoupENSG00000095203
BioGRIDEPB41L4B
STRING (EMBL)EPB41L4B
ZODIACEPB41L4B
Ontologies - Pathways
QuickGOQ9H329
Ontology : AmiGOstructural constituent of cytoskeleton  cytoplasm  cytoskeleton  bicellular tight junction  cytoskeletal protein binding  positive regulation of gene expression  regulation of keratinocyte proliferation  extrinsic component of membrane  actomyosin structure organization  wound healing  apical part of cell  positive regulation of cell adhesion  positive regulation of keratinocyte migration  
Ontology : EGO-EBIstructural constituent of cytoskeleton  cytoplasm  cytoskeleton  bicellular tight junction  cytoskeletal protein binding  positive regulation of gene expression  regulation of keratinocyte proliferation  extrinsic component of membrane  actomyosin structure organization  wound healing  apical part of cell  positive regulation of cell adhesion  positive regulation of keratinocyte migration  
NDEx NetworkEPB41L4B
Atlas of Cancer Signalling NetworkEPB41L4B
Wikipedia pathwaysEPB41L4B
Orthology - Evolution
OrthoDB54566
GeneTree (enSembl)ENSG00000095203
Phylogenetic Trees/Animal Genes : TreeFamEPB41L4B
HOVERGENQ9H329
HOGENOMQ9H329
Homologs : HomoloGeneEPB41L4B
Homology/Alignments : Family Browser (UCSC)EPB41L4B
Gene fusions - Rearrangements
Fusion : MitelmanEPB41L4B/PTPN3 [9q31.3/9q31.3]  
Fusion: TCGAEPB41L4B 9q31.3 PTPN3 9q31.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41L4B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41L4B
dbVarEPB41L4B
ClinVarEPB41L4B
1000_GenomesEPB41L4B 
Exome Variant ServerEPB41L4B
ExAC (Exome Aggregation Consortium)EPB41L4B (select the gene name)
Genetic variants : HAPMAP54566
Genomic Variants (DGV)EPB41L4B [DGVbeta]
DECIPHER (Syndromes)9:112002007-112083244  ENSG00000095203
CONAN: Copy Number AnalysisEPB41L4B 
Mutations
ICGC Data PortalEPB41L4B 
TCGA Data PortalEPB41L4B 
Broad Tumor PortalEPB41L4B
OASIS PortalEPB41L4B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41L4B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB41L4B
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 EPB41L4B
DgiDB (Drug Gene Interaction Database)EPB41L4B
DoCM (Curated mutations)EPB41L4B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41L4B (select a term)
intoGenEPB41L4B
Cancer3DEPB41L4B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610340   
Orphanet
MedgenEPB41L4B
Genetic Testing Registry EPB41L4B
NextProtQ9H329 [Medical]
TSGene54566
GENETestsEPB41L4B
Huge Navigator EPB41L4B [HugePedia]
snp3D : Map Gene to Disease54566
BioCentury BCIQEPB41L4B
ClinGenEPB41L4B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54566
Chemical/Pharm GKB GenePA134986250
Clinical trialEPB41L4B
Miscellaneous
canSAR (ICR)EPB41L4B (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41L4B
EVEXEPB41L4B
GoPubMedEPB41L4B
iHOPEPB41L4B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:00:10 CEST 2017

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