Gene Gene information from NCBI Gene database.
Entrez ID 10130
Gene name Protein disulfide isomerase family A member 6
Gene symbol PDIA6
Synonyms (NCBI Gene)
ERP5P5TXNDC7
Chromosome 2
Chromosome location 2p25.1
Summary This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically
miRNA miRNA information provided by mirtarbase database.
528
miRTarBase ID miRNA Experiments Reference
MIRT031810 hsa-miR-16-5p Proteomics 18668040
MIRT035870 hsa-miR-1304-5p CLASH 23622248
MIRT035802 hsa-miR-1909-3p CLASH 23622248
MIRT437628 hsa-miR-150-5p MicroarrayqRT-PCR 22815788
MIRT437663 hsa-miR-195-5p MicroarrayqRT-PCR 22815788
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Repression 1330541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0003756 Function Protein disulfide isomerase activity TAS 7590364
GO:0005515 Function Protein binding IPI 15466936, 21057456, 21670307, 24189400, 30021884, 32296183, 32814053, 33961781
GO:0005615 Component Extracellular space IDA 19995400
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611099 30168 ENSG00000143870
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15084
Protein name Protein disulfide-isomerase A6 (EC 5.3.4.1) (Endoplasmic reticulum protein 5) (ER protein 5) (ERp5) (Protein disulfide isomerase P5) (Thioredoxin domain-containing protein 7)
Protein function May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed
PDB 1X5D , 3VWW , 3W8J , 4EF0 , 4GWR , 8CPQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 26 129 Thioredoxin Domain
PF00085 Thioredoxin 161 267 Thioredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in platelets (at protein level). {ECO:0000269|PubMed:15466936}.
Sequence
MALLVLGLVSCTFFLAVNGLYSSSDDVIELTPSNFNREVIQSDSLWLVEFYAPWCGHCQR
LTPEWKKAATALKDVVKVGAVDADKHHSLGGQYGVQGFPTIKIFGSNKNRPEDYQGGRTG
EAIVDAALS
ALRQLVKDRLGGRSGGYSSGKQGRSDSSSKKDVIELTDDSFDKNVLDSEDV
WMVEFYAPWCGHCKNLEPEWAAAASEVKEQTKGKVKLAAVDATVNQVLASRYGIRGFPTI
KIFQKGESPVDYDGGRTRSDIVSRALD
LFSDNAPPPELLEIINEDIAKRTCEEHQLCVVA
VLPHILDTGAAGRNSYLEVLLKLADKYKKKMWGWLWTEAGAQSELETALGIGGFGYPAMA
AINARKMKFALLKGSFSEQGINEFLRELSFGRGSTAPVGGGAFPTIVEREPWDGRDGELP
VEDDIDLSDVELDDLGKDEL
Sequence length 440
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   XBP1(S) activates chaperone genes
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 29725981 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31230729 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 27760590
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17420453
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33761940 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25225353, 37457742 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 27760590
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34781823 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34120619 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Permanent Neonatal Neonatal diabetes mellitus Pubtator 35856135 Associate
★☆☆☆☆
Found in Text Mining only