Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERP44 (endoplasmic reticulum protein 44)

Identity

Alias_namesmember 10
TXNDC4
Alias_symbol (synonym)KIAA0573
PDIA10
Other alias
HGNC (Hugo) ERP44
LocusID (NCBI) 23071
Atlas_Id 54289
Location 9q31.1  [Link to chromosome band 9q31]
Location_base_pair Starts at 99979181 and ends at 100099052 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGTRAP (1p36.22) / ERP44 (9q31.1)EGFR (7p11.2) / ERP44 (9q31.1)ERP44 (9q31.1) / CHRDL2 (11q13.4)
MRPL50 (9q31.1) / ERP44 (9q31.1)EGFR 7p11.2 / ERP44 9q31.1ERP44 9q31.1 / CHRDL2 11q13.4
MRPL50 9q31.1 / ERP44 9q31.1

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)ERP44   18311
Cards
Entrez_Gene (NCBI)ERP44  23071  endoplasmic reticulum protein 44
AliasesPDIA10; TXNDC4
GeneCards (Weizmann)ERP44
Ensembl hg19 (Hinxton)ENSG00000023318 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023318 [Gene_View]  chr9:99979181-100099052 [Contig_View]  ERP44 [Vega]
ICGC DataPortalENSG00000023318
TCGA cBioPortalERP44
AceView (NCBI)ERP44
Genatlas (Paris)ERP44
WikiGenes23071
SOURCE (Princeton)ERP44
Genetics Home Reference (NIH)ERP44
Genomic and cartography
GoldenPath hg38 (UCSC)ERP44  -     chr9:99979181-100099052 -  9q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERP44  -     9q31.1   [Description]    (hg19-Feb_2009)
EnsemblERP44 - 9q31.1 [CytoView hg19]  ERP44 - 9q31.1 [CytoView hg38]
Mapping of homologs : NCBIERP44 [Mapview hg19]  ERP44 [Mapview hg38]
OMIM609170   
Gene and transcription
Genbank (Entrez)AB011145 AJ344330 AK075024 AY359048 BC005374
RefSeq transcript (Entrez)NM_015051
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERP44
Cluster EST : UnigeneHs.154023 [ NCBI ]
CGAP (NCI)Hs.154023
Alternative Splicing GalleryENSG00000023318
Gene ExpressionERP44 [ NCBI-GEO ]   ERP44 [ EBI - ARRAY_EXPRESS ]   ERP44 [ SEEK ]   ERP44 [ MEM ]
Gene Expression Viewer (FireBrowse)ERP44 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23071
GTEX Portal (Tissue expression)ERP44
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BS26   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BS26  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BS26
Splice isoforms : SwissVarQ9BS26
PhosPhoSitePlusQ9BS26
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Thioredoxin-like_fold    Thioredoxin_domain   
Domain families : Pfam (Sanger)Thioredoxin (PF00085)   
Domain families : Pfam (NCBI)pfam00085   
Conserved Domain (NCBI)ERP44
DMDM Disease mutations23071
Blocks (Seattle)ERP44
PDB (SRS)2R2J    5HQP   
PDB (PDBSum)2R2J    5HQP   
PDB (IMB)2R2J    5HQP   
PDB (RSDB)2R2J    5HQP   
Structural Biology KnowledgeBase2R2J    5HQP   
SCOP (Structural Classification of Proteins)2R2J    5HQP   
CATH (Classification of proteins structures)2R2J    5HQP   
SuperfamilyQ9BS26
Human Protein AtlasENSG00000023318
Peptide AtlasQ9BS26
HPRD10290
IPIIPI00401264   
Protein Interaction databases
DIP (DOE-UCLA)Q9BS26
IntAct (EBI)Q9BS26
FunCoupENSG00000023318
BioGRIDERP44
STRING (EMBL)ERP44
ZODIACERP44
Ontologies - Pathways
QuickGOQ9BS26
Ontology : AmiGOprotein disulfide isomerase activity  protein binding  extracellular region  endoplasmic reticulum lumen  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  protein folding  response to unfolded protein  glycoprotein metabolic process  cell surface  response to endoplasmic reticulum stress  specific granule lumen  neutrophil degranulation  cell redox homeostasis  extracellular exosome  
Ontology : EGO-EBIprotein disulfide isomerase activity  protein binding  extracellular region  endoplasmic reticulum lumen  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  protein folding  response to unfolded protein  glycoprotein metabolic process  cell surface  response to endoplasmic reticulum stress  specific granule lumen  neutrophil degranulation  cell redox homeostasis  extracellular exosome  
NDEx NetworkERP44
Atlas of Cancer Signalling NetworkERP44
Wikipedia pathwaysERP44
Orthology - Evolution
OrthoDB23071
GeneTree (enSembl)ENSG00000023318
Phylogenetic Trees/Animal Genes : TreeFamERP44
HOVERGENQ9BS26
HOGENOMQ9BS26
Homologs : HomoloGeneERP44
Homology/Alignments : Family Browser (UCSC)ERP44
Gene fusions - Rearrangements
Fusion : MitelmanEGFR/ERP44 [7p11.2/9q31.1]  [t(7;9)(p11;q31)]  
Fusion : MitelmanERP44/CHRDL2 [9q31.1/11q13.4]  [t(9;11)(q31;q13)]  
Fusion : MitelmanMRPL50/ERP44 [9q31.1/9q31.1]  [t(9;9)(q31;q31)]  
Fusion: TCGAEGFR 7p11.2 ERP44 9q31.1 GBM
Fusion: TCGAERP44 9q31.1 CHRDL2 11q13.4 HNSC
Fusion: TCGAMRPL50 9q31.1 ERP44 9q31.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERP44 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERP44
dbVarERP44
ClinVarERP44
1000_GenomesERP44 
Exome Variant ServerERP44
ExAC (Exome Aggregation Consortium)ERP44 (select the gene name)
Genetic variants : HAPMAP23071
Genomic Variants (DGV)ERP44 [DGVbeta]
DECIPHERERP44 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERP44 
Mutations
ICGC Data PortalERP44 
TCGA Data PortalERP44 
Broad Tumor PortalERP44
OASIS PortalERP44 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERP44  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERP44
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
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch ERP44
DgiDB (Drug Gene Interaction Database)ERP44
DoCM (Curated mutations)ERP44 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERP44 (select a term)
intoGenERP44
Cancer3DERP44(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609170   
Orphanet
MedgenERP44
Genetic Testing Registry ERP44
NextProtQ9BS26 [Medical]
TSGene23071
GENETestsERP44
Target ValidationERP44
Huge Navigator ERP44 [HugePedia]
snp3D : Map Gene to Disease23071
BioCentury BCIQERP44
ClinGenERP44
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23071
Chemical/Pharm GKB GenePA164719295
Clinical trialERP44
Miscellaneous
canSAR (ICR)ERP44 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERP44
EVEXERP44
GoPubMedERP44
iHOPERP44
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 12:32:52 CEST 2017

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