Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ERP29 (endoplasmic reticulum protein 29)

Identity

Alias (NCBI)C12orf8
ERp28
ERp31
HEL-S-107
PDI-DB
PDIA9
HGNC (Hugo) ERP29
HGNC Alias symbERp28
ERp31
ERp29
PDI-DB
PDIA9
HGNC Alias nameprotein disulfide isomerase family A, member 9
HGNC Previous nameC12orf8
HGNC Previous namechromosome 12 open reading frame 8
LocusID (NCBI) 10961
Atlas_Id 46162
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 112013426 and ends at 112023449 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)
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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;12)(p22;q24) WIPI2/ERP29

External links

Nomenclature
HGNC (Hugo)ERP29   13799
Cards
Entrez_Gene (NCBI)ERP29    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]  ENSG00000089248 [Sequence]  chr12:112013426-112023449 [Contig_View]  ERP29 [Vega]
ICGC DataPortalENSG00000089248
TCGA cBioPortalERP29
AceView (NCBI)ERP29
Genatlas (Paris)ERP29
SOURCE (Princeton)ERP29
Genetics Home Reference (NIH)ERP29
Genomic and cartography
GoldenPath hg38 (UCSC)ERP29  -     chr12:112013426-112023449 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERP29  -     12q24.13   [Description]    (hg19-Feb_2009)
GoldenPathERP29 - 12q24.13 [CytoView hg19]  ERP29 - 12q24.13 [CytoView hg38]
ImmunoBaseENSG00000089248
genome Data Viewer NCBIERP29 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000089248
Gene ExpressionERP29 [ NCBI-GEO ]   ERP29 [ EBI - ARRAY_EXPRESS ]   ERP29 [ SEEK ]   ERP29 [ MEM ]
Gene Expression Viewer (FireBrowse)ERP29 [ Firebrowse - Broad ]
GenevisibleExpression of ERP29 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10961
GTEX Portal (Tissue expression)ERP29
Human Protein AtlasENSG00000089248-ERP29 [pathology]   [cell]   [tissue]
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)ERp29    ERp29_C    ERp29_C_sf    ERp29_N    Thioredoxin-like_sf   
Domain families : Pfam (Sanger)ERp29 (PF07749)    ERp29_N (PF07912)   
Domain families : Pfam (NCBI)pfam07749    pfam07912   
Conserved Domain (NCBI)ERP29
Blocks (Seattle)ERP29
PDB (RSDB)2QC7    5V8Z    5V90   
PDB Europe2QC7    5V8Z    5V90   
PDB (PDBSum)2QC7    5V8Z    5V90   
PDB (IMB)2QC7    5V8Z    5V90   
Structural Biology KnowledgeBase2QC7    5V8Z    5V90   
SCOP (Structural Classification of Proteins)2QC7    5V8Z    5V90   
CATH (Classification of proteins structures)2QC7    5V8Z    5V90   
SuperfamilyP30040
Human Protein Atlas [tissue]ENSG00000089248-ERP29 [tissue]
Peptide AtlasP30040
HPRD03794
IPIIPI00024911   IPI01023040   IPI01021912   IPI00654800   
Protein Interaction databases
DIP (DOE-UCLA)P30040
IntAct (EBI)P30040
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  endoplasmic reticulum lumen  smooth endoplasmic reticulum  protein folding  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  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  endoplasmic reticulum lumen  smooth endoplasmic reticulum  protein folding  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  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
HOGENOMP30040
Homologs : HomoloGeneERP29
Homology/Alignments : Family Browser (UCSC)ERP29
Gene fusions - Rearrangements
Fusion : MitelmanWIPI2/ERP29 [7p22.1/12q24.13]  
Fusion : QuiverERP29
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERP29 [hg38]
dbVarERP29
ClinVarERP29
MonarchERP29
1000_GenomesERP29 
Exome Variant ServerERP29
GNOMAD BrowserENSG00000089248
Varsome BrowserERP29
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]  
Somatic Mutations in Cancer : COSMIC3DERP29
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602287   
Orphanet
DisGeNETERP29
MedgenERP29
Genetic Testing Registry ERP29
NextProtP30040 [Medical]
GENETestsERP29
Target ValidationERP29
Huge Navigator ERP29 [HugePedia]
ClinGenERP29
Clinical trials, drugs, therapy
MyCancerGenomeERP29
Protein Interactions : CTD
Pharm GKB GenePA25509
PharosP30040
Clinical trialERP29
Miscellaneous
canSAR (ICR)ERP29 (select the gene name)
HarmonizomeERP29
DataMed IndexERP29
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXERP29
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:14:43 CET 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.