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EPB42 (erythrocyte membrane protein band 4.2)

Identity

Alias (NCBI)PA
SPH5
HGNC (Hugo) EPB42
HGNC Alias symbPA
MGC116735
MGC116737
HGNC Alias nameErythrocyte surface protein band 4.2
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)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  TAL1 (1p32) deletion in lymphoid malignancies


External links

 

Nomenclature
HGNC (Hugo)EPB42   3381
Cards
Entrez_Gene (NCBI)EPB42    erythrocyte membrane protein band 4.2
AliasesPA; SPH5
GeneCards (Weizmann)EPB42
Ensembl hg19 (Hinxton)ENSG00000166947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166947 [Gene_View]  ENSG00000166947 [Sequence]  chr15:43197228-43221125 [Contig_View]  EPB42 [Vega]
ICGC DataPortalENSG00000166947
TCGA cBioPortalEPB42
AceView (NCBI)EPB42
Genatlas (Paris)EPB42
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)
GoldenPathEPB42 - 15q15.2 [CytoView hg19]  EPB42 - 15q15.2 [CytoView hg38]
ImmunoBaseENSG00000166947
Genome Data Viewer NCBIEPB42 [Mapview hg19]  
OMIM177070   612690   
Gene and transcription
Genbank (Entrez)AK297146 AK297663 BC096093 BC096094 BC096095
RefSeq transcript (Entrez)NM_000119 NM_001114134
Consensus coding sequences : CCDS (NCBI)EPB42
Gene ExpressionEPB42 [ NCBI-GEO ]   EPB42 [ EBI - ARRAY_EXPRESS ]   EPB42 [ SEEK ]   EPB42 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB42 [ Firebrowse - Broad ]
GenevisibleExpression of EPB42 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2038
GTEX Portal (Tissue expression)EPB42
Human Protein AtlasENSG00000166947-EPB42 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP16452
Domaine pattern : Prosite (Expaxy)TRANSGLUTAMINASES (PS00547)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    Papain-like_cys_pep_sf    Transglutaminase-like    Transglutaminase-like_sf    Transglutaminase_animal    Transglutaminase_AS    Transglutaminase_C    Transglutaminase_C_sf    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
SuperfamilyP16452
AlphaFold pdb e-kbP16452   
Human Protein Atlas [tissue]ENSG00000166947-EPB42 [tissue]
HPRD01517
Protein Interaction databases
DIP (DOE-UCLA)P16452
IntAct (EBI)P16452
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
Homologs : HomoloGeneEPB42
Homology/Alignments : Family Browser (UCSC)EPB42
Gene fusions - Rearrangements
Fusion : QuiverEPB42
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB42
dbVarEPB42
ClinVarEPB42
MonarchEPB42
1000_GenomesEPB42 
Exome Variant ServerEPB42
GNOMAD BrowserENSG00000166947
Varsome BrowserEPB42
ACMGEPB42 variants
VarityP16452
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]  
Somatic Mutations in Cancer : COSMIC3DEPB42
Mutations and Diseases : HGMDEPB42
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEPB42
DgiDB (Drug Gene Interaction Database)EPB42
DoCM (Curated mutations)EPB42
CIViC (Clinical Interpretations of Variants in Cancer)EPB42
Cancer3DEPB42
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM177070    612690   
Orphanet3252   
DisGeNETEPB42
MedgenEPB42
Genetic Testing Registry EPB42
NextProtP16452 [Medical]
GENETestsEPB42
Target ValidationEPB42
Huge Navigator EPB42 [HugePedia]
ClinGenEPB42
Clinical trials, drugs, therapy
MyCancerGenomeEPB42
Protein Interactions : CTDEPB42
Pharm GKB GenePA27814
PharosP16452
Clinical trialEPB42
Miscellaneous
canSAR (ICR)EPB42
HarmonizomeEPB42
ARCHS4EPB42
DataMed IndexEPB42
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEPB42
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:51:46 CET 2022

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