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ERP29 (endoplasmic reticulum protein 29)

Identity

/TR>J
Alias_namesmember 9
C12orf8
Alias_symbol (synonym)ERp28
ERp31
ERp29
PDI-DB
PDIA9
Other aliasHEL-S-107
HGNC (Hugo) ERP29
LocusID (NCBI) 10961
Atlas_Id 46162
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 112013348 and ends at 112023220 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APH1B (15q22.2) / ERP29 (12q24.13)ERP29 (12q24.13) / ACAD10 (12q24.12)ERP29 (12q24.13) / SLC6A14 (Xq23)
WIPI2 (7p22.1) / ERP29 (12q24.13)ZSWIM6 (5q12.1) / ERP29 (12q24.13)

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)ERP29   13799
Cards
Entrez_Gene (NCBI)ERP29  10961  endoplasmic reticulum protein 29
AliasesC12orf8; ERp28; ERp31; HEL-S-107; 
PDI-DB; PDIA9
GeneCards (Weizmann)ERP29
Ensembl hg19 (Hinxton)ENSG00000089248 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089248 [Gene_View]  chr12:112013348-112023220 [Contig_View]  ERP29 [Vega]
ICGC DataPortalENSG00000089248
TCGA cBioPortalERP29
AceView (NCBI)ERP29
Genatlas (Paris)ERP29
WikiGenes10961
SOURCE (Princeton)ERP29
Genetics Home Reference (NIH)ERP29
Genomic and cartography
GoldenPath hg38 (UCSC)ERP29  -     chr12:112013348-112023220 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERP29  -     12q24.13   [Description]    (hg19-Feb_2009)
EnsemblERP29 - 12q24.13 [CytoView hg19]  ERP29 - 12q24.13 [CytoView hg38]
Mapping of homologs : NCBIERP29 [Mapview hg19]  ERP29 [Mapview hg38]
OMIM602287   
Gene and transcription
Genbank (Entrez)AA412124 AK309426 BC101493 BC101495 BE794579
RefSeq transcript (Entrez)NM_001034025 NM_006817
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERP29
Cluster EST : UnigeneHs.75841 [ NCBI ]
CGAP (NCI)Hs.75841
Alternative Splicing GalleryENSG00000089248
Gene ExpressionERP29 [ NCBI-GEO ]   ERP29 [ EBI - ARRAY_EXPRESS ]   ERP29 [ SEEK ]   ERP29 [ MEM ]
Gene Expression Viewer (FireBrowse)ERP29 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10961
GTEX Portal (Tissue expression)ERP29
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30040   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30040  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30040
Splice isoforms : SwissVarP30040
PhosPhoSitePlusP30040
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)ER_p29    ER_p29_C    ERp29_N    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)ERp29 (PF07749)    ERp29_N (PF07912)   
Domain families : Pfam (NCBI)pfam07749    pfam07912   
Conserved Domain (NCBI)ERP29
DMDM Disease mutations10961
Blocks (Seattle)ERP29
PDB (SRS)2QC7   
PDB (PDBSum)2QC7   
PDB (IMB)2QC7   
PDB (RSDB)2QC7   
Structural Biology KnowledgeBase2QC7   
SCOP (Structural Classification of Proteins)2QC7   
CATH (Classification of proteins structures)2QC7   
SuperfamilyP30040
Human Protein AtlasENSG00000089248
Peptide AtlasP30040
HPRD03794
IPIIPI00024911   IPI01023040   IPI01021912   IPI00654800   
Protein Interaction databases
DIP (DOE-UCLA)P30040
IntAct (EBI)P30040
FunCoupENSG00000089248
BioGRIDERP29
STRING (EMBL)ERP29
ZODIACERP29
Ontologies - Pathways
QuickGOP30040
Ontology : AmiGOactivation of MAPK activity  positive regulation of protein phosphorylation  protein disulfide isomerase activity  endoplasmic reticulum  endoplasmic reticulum lumen  smooth endoplasmic reticulum  protein folding  protein folding  intracellular protein transport  intracellular protein transport  protein secretion  cell surface  positive regulation of gene expression  negative regulation of gene expression  membrane  transport vesicle  melanosome  protein homodimerization activity  protein unfolding  negative regulation of protein secretion  chaperone binding  extracellular exosome  regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIactivation of MAPK activity  positive regulation of protein phosphorylation  protein disulfide isomerase activity  endoplasmic reticulum  endoplasmic reticulum lumen  smooth endoplasmic reticulum  protein folding  protein folding  intracellular protein transport  intracellular protein transport  protein secretion  cell surface  positive regulation of gene expression  negative regulation of gene expression  membrane  transport vesicle  melanosome  protein homodimerization activity  protein unfolding  negative regulation of protein secretion  chaperone binding  extracellular exosome  regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkERP29
Atlas of Cancer Signalling NetworkERP29
Wikipedia pathwaysERP29
Orthology - Evolution
OrthoDB10961
GeneTree (enSembl)ENSG00000089248
Phylogenetic Trees/Animal Genes : TreeFamERP29
HOVERGENP30040
HOGENOMP30040
Homologs : HomoloGeneERP29
Homology/Alignments : Family Browser (UCSC)ERP29
Gene fusions - Rearrangements
Fusion : MitelmanWIPI2/ERP29 [7p22.1/12q24.13]  [t(7;12)(p22;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERP29 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERP29
dbVarERP29
ClinVarERP29
1000_GenomesERP29 
Exome Variant ServerERP29
ExAC (Exome Aggregation Consortium)ERP29 (select the gene name)
Genetic variants : HAPMAP10961
Genomic Variants (DGV)ERP29 [DGVbeta]
DECIPHERERP29 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERP29 
Mutations
ICGC Data PortalERP29 
TCGA Data PortalERP29 
Broad Tumor PortalERP29
OASIS PortalERP29 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERP29  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERP29
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERP29
DgiDB (Drug Gene Interaction Database)ERP29
DoCM (Curated mutations)ERP29 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERP29 (select a term)
intoGenERP29
Cancer3DERP29(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602287   
Orphanet
MedgenERP29
Genetic Testing Registry ERP29
NextProtP30040 [Medical]
TSGene10961
GENETestsERP29
Target ValidationERP29
Huge Navigator ERP29 [HugePedia]
snp3D : Map Gene to Disease10961
BioCentury BCIQERP29
ClinGenERP29
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10961
Chemical/Pharm GKB GenePA25509
Clinical trialERP29
Miscellaneous
canSAR (ICR)ERP29 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERP29
EVEXERP29
GoPubMedERP29
iHOPERP29
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:07:15 CEST 2017

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