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PDIA6 (protein disulfide isomerase family A member 6)

Identity

Alias_namesTXNDC7
thioredoxin domain containing 7 (protein disulfide isomerase)
protein disulfide isomerase-associated 6
protein disulfide isomerase family A, member 6
Alias_symbol (synonym)P5
ERp5
Other aliasERP5
HGNC (Hugo) PDIA6
LocusID (NCBI) 10130
Atlas_Id 52908
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 10783391 and ends at 10832485 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
E2F6 (2p25.1) / PDIA6 (2p25.1)PDIA6 (2p25.1) / ATP6V1C2 (2p25.1)PDIA6 (2p25.1) / BANP (16q24.2)
PDIA6 (2p25.1) / TPM2 (9p13.3)SMYD3 (1q44) / PDIA6 (2p25.1)

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)PDIA6   30168
Cards
Entrez_Gene (NCBI)PDIA6  10130  protein disulfide isomerase family A member 6
AliasesERP5; P5; TXNDC7
GeneCards (Weizmann)PDIA6
Ensembl hg19 (Hinxton)ENSG00000143870 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143870 [Gene_View]  chr2:10783391-10832485 [Contig_View]  PDIA6 [Vega]
ICGC DataPortalENSG00000143870
TCGA cBioPortalPDIA6
AceView (NCBI)PDIA6
Genatlas (Paris)PDIA6
WikiGenes10130
SOURCE (Princeton)PDIA6
Genetics Home Reference (NIH)PDIA6
Genomic and cartography
GoldenPath hg38 (UCSC)PDIA6  -     chr2:10783391-10832485 -  2p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDIA6  -     2p25.1   [Description]    (hg19-Feb_2009)
EnsemblPDIA6 - 2p25.1 [CytoView hg19]  PDIA6 - 2p25.1 [CytoView hg38]
Mapping of homologs : NCBIPDIA6 [Mapview hg19]  PDIA6 [Mapview hg38]
OMIM611099   
Gene and transcription
Genbank (Entrez)AK125449 AK127433 AK131234 AK225496 AK289428
RefSeq transcript (Entrez)NM_001282704 NM_001282705 NM_001282706 NM_001282707 NM_005742
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDIA6
Cluster EST : UnigeneHs.580464 [ NCBI ]
CGAP (NCI)Hs.580464
Alternative Splicing GalleryENSG00000143870
Gene ExpressionPDIA6 [ NCBI-GEO ]   PDIA6 [ EBI - ARRAY_EXPRESS ]   PDIA6 [ SEEK ]   PDIA6 [ MEM ]
Gene Expression Viewer (FireBrowse)PDIA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10130
GTEX Portal (Tissue expression)PDIA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15084   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15084  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15084
Splice isoforms : SwissVarQ15084
PhosPhoSitePlusQ15084
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    THIOREDOXIN_1 (PS00194)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Disulphide_isomerase    Thioredoxin-like_fold    Thioredoxin_CS    Thioredoxin_domain   
Domain families : Pfam (Sanger)Thioredoxin (PF00085)   
Domain families : Pfam (NCBI)pfam00085   
Conserved Domain (NCBI)PDIA6
DMDM Disease mutations10130
Blocks (Seattle)PDIA6
PDB (SRS)1X5D    3VWW    3W8J    4EF0    4GWR   
PDB (PDBSum)1X5D    3VWW    3W8J    4EF0    4GWR   
PDB (IMB)1X5D    3VWW    3W8J    4EF0    4GWR   
PDB (RSDB)1X5D    3VWW    3W8J    4EF0    4GWR   
Structural Biology KnowledgeBase1X5D    3VWW    3W8J    4EF0    4GWR   
SCOP (Structural Classification of Proteins)1X5D    3VWW    3W8J    4EF0    4GWR   
CATH (Classification of proteins structures)1X5D    3VWW    3W8J    4EF0    4GWR   
SuperfamilyQ15084
Human Protein AtlasENSG00000143870
Peptide AtlasQ15084
HPRD07504
IPIIPI00644989   IPI00299571   IPI01013559   IPI01011902   IPI01010189   IPI00892972   
Protein Interaction databases
DIP (DOE-UCLA)Q15084
IntAct (EBI)Q15084
FunCoupENSG00000143870
BioGRIDPDIA6
STRING (EMBL)PDIA6
ZODIACPDIA6
Ontologies - Pathways
QuickGOQ15084
Ontology : AmiGOprotein disulfide isomerase activity  protein binding  extracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  cytosol  plasma membrane  protein folding  peptide disulfide oxidoreductase activity  endoplasmic reticulum chaperone complex  response to endoplasmic reticulum stress  IRE1-mediated unfolded protein response  melanosome  apoptotic cell clearance  cell redox homeostasis  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIprotein disulfide isomerase activity  protein binding  extracellular space  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  cytosol  plasma membrane  protein folding  peptide disulfide oxidoreductase activity  endoplasmic reticulum chaperone complex  response to endoplasmic reticulum stress  IRE1-mediated unfolded protein response  melanosome  apoptotic cell clearance  cell redox homeostasis  oxidation-reduction process  extracellular exosome  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkPDIA6
Atlas of Cancer Signalling NetworkPDIA6
Wikipedia pathwaysPDIA6
Orthology - Evolution
OrthoDB10130
GeneTree (enSembl)ENSG00000143870
Phylogenetic Trees/Animal Genes : TreeFamPDIA6
HOVERGENQ15084
HOGENOMQ15084
Homologs : HomoloGenePDIA6
Homology/Alignments : Family Browser (UCSC)PDIA6
Gene fusions - Rearrangements
Fusion : MitelmanPDIA6/TPM2 [2p25.1/9p13.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDIA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDIA6
dbVarPDIA6
ClinVarPDIA6
1000_GenomesPDIA6 
Exome Variant ServerPDIA6
ExAC (Exome Aggregation Consortium)PDIA6 (select the gene name)
Genetic variants : HAPMAP10130
Genomic Variants (DGV)PDIA6 [DGVbeta]
DECIPHERPDIA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDIA6 
Mutations
ICGC Data PortalPDIA6 
TCGA Data PortalPDIA6 
Broad Tumor PortalPDIA6
OASIS PortalPDIA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDIA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDIA6
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 PDIA6
DgiDB (Drug Gene Interaction Database)PDIA6
DoCM (Curated mutations)PDIA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDIA6 (select a term)
intoGenPDIA6
Cancer3DPDIA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611099   
Orphanet
MedgenPDIA6
Genetic Testing Registry PDIA6
NextProtQ15084 [Medical]
TSGene10130
GENETestsPDIA6
Target ValidationPDIA6
Huge Navigator PDIA6 [HugePedia]
snp3D : Map Gene to Disease10130
BioCentury BCIQPDIA6
ClinGenPDIA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10130
Chemical/Pharm GKB GenePA134977905
Clinical trialPDIA6
Miscellaneous
canSAR (ICR)PDIA6 (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDIA6
EVEXPDIA6
GoPubMedPDIA6
iHOPPDIA6
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 12:48:58 CEST 2017

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