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EPB41L4A (erythrocyte membrane protein band 4.1 like 4A)

Identity

Alias_symbol (synonym)NBL4
Other aliasEPB41L4
HGNC (Hugo) EPB41L4A
LocusID (NCBI) 64097
Atlas_Id 62855
Location 5q22.1  [Link to chromosome band 5q22]
Location_base_pair Starts at 112142442 and ends at 112419316 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH1A1 (9q21.13) / EPB41L4A (5q22.1)EPB41L4A (5q22.1) / EPB41L4A (5q22.1)EPB41L4A (5q22.1) / PLAC8L1 (5q32)
PNKD (2q35) / EPB41L4A (5q22.1)

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)EPB41L4A   13278
Cards
Entrez_Gene (NCBI)EPB41L4A  64097  erythrocyte membrane protein band 4.1 like 4A
AliasesEPB41L4; NBL4
GeneCards (Weizmann)EPB41L4A
Ensembl hg19 (Hinxton)ENSG00000129595 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129595 [Gene_View]  chr5:112142442-112419316 [Contig_View]  EPB41L4A [Vega]
ICGC DataPortalENSG00000129595
TCGA cBioPortalEPB41L4A
AceView (NCBI)EPB41L4A
Genatlas (Paris)EPB41L4A
WikiGenes64097
SOURCE (Princeton)EPB41L4A
Genetics Home Reference (NIH)EPB41L4A
Genomic and cartography
GoldenPath hg38 (UCSC)EPB41L4A  -     chr5:112142442-112419316 -  5q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPB41L4A  -     5q22.1   [Description]    (hg19-Feb_2009)
EnsemblEPB41L4A - 5q22.1 [CytoView hg19]  EPB41L4A - 5q22.1 [CytoView hg38]
Mapping of homologs : NCBIEPB41L4A [Mapview hg19]  EPB41L4A [Mapview hg38]
OMIM612141   
Gene and transcription
Genbank (Entrez)AA350575 AA406206 AB030240 AK021578 AK096057
RefSeq transcript (Entrez)NM_001347887 NM_001347888 NM_022140
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB41L4A
Cluster EST : UnigeneHs.584954 [ NCBI ]
CGAP (NCI)Hs.584954
Alternative Splicing GalleryENSG00000129595
Gene ExpressionEPB41L4A [ NCBI-GEO ]   EPB41L4A [ EBI - ARRAY_EXPRESS ]   EPB41L4A [ SEEK ]   EPB41L4A [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41L4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64097
GTEX Portal (Tissue expression)EPB41L4A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCS5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCS5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCS5
Splice isoforms : SwissVarQ9HCS5
PhosPhoSitePlusQ9HCS5
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)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)EPB41L4A
DMDM Disease mutations64097
Blocks (Seattle)EPB41L4A
SuperfamilyQ9HCS5
Human Protein AtlasENSG00000129595
Peptide AtlasQ9HCS5
HPRD09939
IPIIPI00030794   IPI00298393   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCS5
IntAct (EBI)Q9HCS5
FunCoupENSG00000129595
BioGRIDEPB41L4A
STRING (EMBL)EPB41L4A
ZODIACEPB41L4A
Ontologies - Pathways
QuickGOQ9HCS5
Ontology : AmiGOmolecular_function  structural constituent of cytoskeleton  cellular_component  cytoplasm  cytoskeleton  cytoskeletal protein binding  biological_process  extrinsic component of membrane  actomyosin structure organization  
Ontology : EGO-EBImolecular_function  structural constituent of cytoskeleton  cellular_component  cytoplasm  cytoskeleton  cytoskeletal protein binding  biological_process  extrinsic component of membrane  actomyosin structure organization  
NDEx NetworkEPB41L4A
Atlas of Cancer Signalling NetworkEPB41L4A
Wikipedia pathwaysEPB41L4A
Orthology - Evolution
OrthoDB64097
GeneTree (enSembl)ENSG00000129595
Phylogenetic Trees/Animal Genes : TreeFamEPB41L4A
HOVERGENQ9HCS5
HOGENOMQ9HCS5
Homologs : HomoloGeneEPB41L4A
Homology/Alignments : Family Browser (UCSC)EPB41L4A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41L4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41L4A
dbVarEPB41L4A
ClinVarEPB41L4A
1000_GenomesEPB41L4A 
Exome Variant ServerEPB41L4A
ExAC (Exome Aggregation Consortium)EPB41L4A (select the gene name)
Genetic variants : HAPMAP64097
Genomic Variants (DGV)EPB41L4A [DGVbeta]
DECIPHEREPB41L4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPB41L4A 
Mutations
ICGC Data PortalEPB41L4A 
TCGA Data PortalEPB41L4A 
Broad Tumor PortalEPB41L4A
OASIS PortalEPB41L4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41L4A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB41L4A
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 EPB41L4A
DgiDB (Drug Gene Interaction Database)EPB41L4A
DoCM (Curated mutations)EPB41L4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41L4A (select a term)
intoGenEPB41L4A
Cancer3DEPB41L4A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612141   
Orphanet
MedgenEPB41L4A
Genetic Testing Registry EPB41L4A
NextProtQ9HCS5 [Medical]
TSGene64097
GENETestsEPB41L4A
Huge Navigator EPB41L4A [HugePedia]
snp3D : Map Gene to Disease64097
BioCentury BCIQEPB41L4A
ClinGenEPB41L4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64097
Chemical/Pharm GKB GenePA134994123
Clinical trialEPB41L4A
Miscellaneous
canSAR (ICR)EPB41L4A (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41L4A
EVEXEPB41L4A
GoPubMedEPB41L4A
iHOPEPB41L4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:09:54 CEST 2017

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