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EPB42 (erythrocyte membrane protein band 4.2)

Identity

Alias_symbol (synonym)PA
MGC116735
MGC116737
Other aliasSPH5
HGNC (Hugo) EPB42
LocusID (NCBI) 2038
Atlas_Id 62858
Location 15q15.2  [Link to chromosome band 15q15]
Location_base_pair Starts at 43197228 and ends at 43221125 bp from pter ( according to hg38-Dec_2013)

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)EPB42   3381
Cards
Entrez_Gene (NCBI)EPB42  2038  erythrocyte membrane protein band 4.2
AliasesPA; SPH5
GeneCards (Weizmann)EPB42
Ensembl hg19 (Hinxton)ENSG00000166947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166947 [Gene_View]  chr15:43197228-43221125 [Contig_View]  EPB42 [Vega]
ICGC DataPortalENSG00000166947
TCGA cBioPortalEPB42
AceView (NCBI)EPB42
Genatlas (Paris)EPB42
WikiGenes2038
SOURCE (Princeton)EPB42
Genetics Home Reference (NIH)EPB42
Genomic and cartography
GoldenPath hg38 (UCSC)EPB42  -     chr15:43197228-43221125 -  15q15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPB42  -     15q15.2   [Description]    (hg19-Feb_2009)
EnsemblEPB42 - 15q15.2 [CytoView hg19]  EPB42 - 15q15.2 [CytoView hg38]
Mapping of homologs : NCBIEPB42 [Mapview hg19]  EPB42 [Mapview hg38]
OMIM177070   612690   
Gene and transcription
Genbank (Entrez)AK297146 AK297663 BC096093 BC096094 BC096095
RefSeq transcript (Entrez)NM_000119 NM_001114134
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB42
Cluster EST : UnigeneHs.368642 [ NCBI ]
CGAP (NCI)Hs.368642
Alternative Splicing GalleryENSG00000166947
Gene ExpressionEPB42 [ NCBI-GEO ]   EPB42 [ EBI - ARRAY_EXPRESS ]   EPB42 [ SEEK ]   EPB42 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB42 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2038
GTEX Portal (Tissue expression)EPB42
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16452   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16452  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16452
Splice isoforms : SwissVarP16452
PhosPhoSitePlusP16452
Domaine pattern : Prosite (Expaxy)TRANSGLUTAMINASES (PS00547)   
Domains : Interpro (EBI)Gln_gamma-glutamylTfrase_euk    Ig-like_fold    Ig_E-set    Transglutaminase-like    Transglutaminase_AS    Transglutaminase_C    Transglutaminase_N   
Domain families : Pfam (Sanger)Transglut_C (PF00927)    Transglut_core (PF01841)    Transglut_N (PF00868)   
Domain families : Pfam (NCBI)pfam00927    pfam01841    pfam00868   
Domain families : Smart (EMBL)TGc (SM00460)  
Conserved Domain (NCBI)EPB42
DMDM Disease mutations2038
Blocks (Seattle)EPB42
SuperfamilyP16452
Human Protein AtlasENSG00000166947
Peptide AtlasP16452
HPRD01517
IPIIPI00827872   IPI00028120   IPI01013794   IPI00619961   
Protein Interaction databases
DIP (DOE-UCLA)P16452
IntAct (EBI)P16452
FunCoupENSG00000166947
BioGRIDEPB42
STRING (EMBL)EPB42
ZODIACEPB42
Ontologies - Pathways
QuickGOP16452
Ontology : AmiGOcell morphogenesis  protein-glutamine gamma-glutamyltransferase activity  structural constituent of cytoskeleton  protein binding  ATP binding  cytoskeleton  plasma membrane  cytoskeleton organization  regulation of cell shape  peptide cross-linking  hemoglobin metabolic process  cortical cytoskeleton  erythrocyte maturation  spleen development  iron ion homeostasis  
Ontology : EGO-EBIcell morphogenesis  protein-glutamine gamma-glutamyltransferase activity  structural constituent of cytoskeleton  protein binding  ATP binding  cytoskeleton  plasma membrane  cytoskeleton organization  regulation of cell shape  peptide cross-linking  hemoglobin metabolic process  cortical cytoskeleton  erythrocyte maturation  spleen development  iron ion homeostasis  
NDEx NetworkEPB42
Atlas of Cancer Signalling NetworkEPB42
Wikipedia pathwaysEPB42
Orthology - Evolution
OrthoDB2038
GeneTree (enSembl)ENSG00000166947
Phylogenetic Trees/Animal Genes : TreeFamEPB42
HOVERGENP16452
HOGENOMP16452
Homologs : HomoloGeneEPB42
Homology/Alignments : Family Browser (UCSC)EPB42
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB42
dbVarEPB42
ClinVarEPB42
1000_GenomesEPB42 
Exome Variant ServerEPB42
ExAC (Exome Aggregation Consortium)EPB42 (select the gene name)
Genetic variants : HAPMAP2038
Genomic Variants (DGV)EPB42 [DGVbeta]
DECIPHEREPB42 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPB42 
Mutations
ICGC Data PortalEPB42 
TCGA Data PortalEPB42 
Broad Tumor PortalEPB42
OASIS PortalEPB42 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB42  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB42
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 EPB42
DgiDB (Drug Gene Interaction Database)EPB42
DoCM (Curated mutations)EPB42 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB42 (select a term)
intoGenEPB42
Cancer3DEPB42(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM177070    612690   
Orphanet3252   
MedgenEPB42
Genetic Testing Registry EPB42
NextProtP16452 [Medical]
TSGene2038
GENETestsEPB42
Target ValidationEPB42
Huge Navigator EPB42 [HugePedia]
snp3D : Map Gene to Disease2038
BioCentury BCIQEPB42
ClinGenEPB42
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2038
Chemical/Pharm GKB GenePA27814
Clinical trialEPB42
Miscellaneous
canSAR (ICR)EPB42 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB42
EVEXEPB42
GoPubMedEPB42
iHOPEPB42
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:47:14 CEST 2017

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