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PDIA6 (protein disulfide isomerase family A member 6)

Identity

Alias (NCBI)ERP5
P5
TXNDC7
HGNC (Hugo) PDIA6
HGNC Alias symbP5
ERp5
HGNC Alias nameprotein disulfide isomerase-related protein
HGNC Previous nameTXNDC7
HGNC Previous namethioredoxin domain containing 7 (protein disulfide isomerase)
 protein disulfide isomerase-associated 6
 protein disulfide isomerase family A, member 6
LocusID (NCBI) 10130
Atlas_Id 52908
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 10783391 and ends at 10812785 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)
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    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]  ENSG00000143870 [Sequence]  chr2:10783391-10812785 [Contig_View]  PDIA6 [Vega]
ICGC DataPortalENSG00000143870
TCGA cBioPortalPDIA6
AceView (NCBI)PDIA6
Genatlas (Paris)PDIA6
SOURCE (Princeton)PDIA6
Genetics Home Reference (NIH)PDIA6
Genomic and cartography
GoldenPath hg38 (UCSC)PDIA6  -     chr2:10783391-10812785 -  2p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDIA6  -     2p25.1   [Description]    (hg19-Feb_2009)
GoldenPathPDIA6 - 2p25.1 [CytoView hg19]  PDIA6 - 2p25.1 [CytoView hg38]
ImmunoBaseENSG00000143870
Genome Data Viewer NCBIPDIA6 [Mapview hg19]  
OMIM611099   
Gene and transcription
Genbank (Entrez)AK125449 AK127433 AK131234 AK225496 AK289428
RefSeq transcript (Entrez)NM_001282704 NM_001282705 NM_001282706 NM_001282707 NM_005742
Consensus coding sequences : CCDS (NCBI)PDIA6
Gene ExpressionPDIA6 [ NCBI-GEO ]   PDIA6 [ EBI - ARRAY_EXPRESS ]   PDIA6 [ SEEK ]   PDIA6 [ MEM ]
Gene Expression Viewer (FireBrowse)PDIA6 [ Firebrowse - Broad ]
GenevisibleExpression of PDIA6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10130
GTEX Portal (Tissue expression)PDIA6
Human Protein AtlasENSG00000143870-PDIA6 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ15084
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    THIOREDOXIN_1 (PS00194)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Disulphide_isomerase    Thioredoxin-like_sf    Thioredoxin_CS    Thioredoxin_domain   
Domain families : Pfam (Sanger)Thioredoxin (PF00085)   
Domain families : Pfam (NCBI)pfam00085   
Conserved Domain (NCBI)PDIA6
PDB (RSDB)1X5D    3VWW    3W8J    4EF0    4GWR   
PDB Europe1X5D    3VWW    3W8J    4EF0    4GWR   
PDB (PDBSum)1X5D    3VWW    3W8J    4EF0    4GWR   
PDB (IMB)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
AlphaFold pdb e-kbQ15084   
Human Protein Atlas [tissue]ENSG00000143870-PDIA6 [tissue]
HPRD07504
Protein Interaction databases
DIP (DOE-UCLA)Q15084
IntAct (EBI)Q15084
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  protein-disulfide reductase activity  endoplasmic reticulum chaperone complex  IRE1-mediated unfolded protein response  melanosome  post-translational protein modification  cellular protein metabolic 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  protein-disulfide reductase activity  endoplasmic reticulum chaperone complex  IRE1-mediated unfolded protein response  melanosome  post-translational protein modification  cellular protein metabolic 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
Homologs : HomoloGenePDIA6
Homology/Alignments : Family Browser (UCSC)PDIA6
Gene fusions - Rearrangements
Fusion : MitelmanPDIA6/TPM2 [2p25.1/9p13.3]  
Fusion : QuiverPDIA6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDIA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDIA6
dbVarPDIA6
ClinVarPDIA6
MonarchPDIA6
1000_GenomesPDIA6 
Exome Variant ServerPDIA6
GNOMAD BrowserENSG00000143870
Varsome BrowserPDIA6
ACMGPDIA6 variants
VarityQ15084
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]  
Somatic Mutations in Cancer : COSMIC3DPDIA6
Mutations and Diseases : HGMDPDIA6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPDIA6
DgiDB (Drug Gene Interaction Database)PDIA6
DoCM (Curated mutations)PDIA6
CIViC (Clinical Interpretations of Variants in Cancer)PDIA6
Cancer3DPDIA6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611099   
Orphanet
DisGeNETPDIA6
MedgenPDIA6
Genetic Testing Registry PDIA6
NextProtQ15084 [Medical]
GENETestsPDIA6
Target ValidationPDIA6
Huge Navigator PDIA6 [HugePedia]
ClinGenPDIA6
Clinical trials, drugs, therapy
MyCancerGenomePDIA6
Protein Interactions : CTDPDIA6
Pharm GKB GenePA134977905
PharosQ15084
Clinical trialPDIA6
Miscellaneous
canSAR (ICR)PDIA6
HarmonizomePDIA6
DataMed IndexPDIA6
Probes
Litterature
PubMed154 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDIA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:48 CEST 2021

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