Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10130
Gene name Gene Name - the full gene name approved by the HGNC.
Protein disulfide isomerase family A member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDIA6
Synonyms (NCBI Gene) Gene synonyms aliases
ERP5, P5, TXNDC7
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 Microarray, qRT-PCR 22815788
MIRT437663 hsa-miR-195-5p Microarray, qRT-PCR 22815788
Transcription factors
Transcription factor Regulation Reference
YY1 Repression 1330541
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0005515 Function Protein binding IPI 15466936, 21057456, 21670307, 24189400, 30021884, 32296183, 32814053
GO:0005615 Component Extracellular space IDA 19995400
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum TAS 16130169
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611099 30168 ENSG00000143870
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
31374203
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24464223, 34781823
Alzheimer Disease Associate 29725981
Autism Spectrum Disorder Associate 31230729
Carcinogenesis Associate 33761940
Carcinoma Hepatocellular Associate 25225353, 37457742
Carcinoma Non Small Cell Lung Associate 24464223
Carcinoma Renal Cell Associate 34781823
Colorectal Neoplasms Associate 34120619
Diabetes Mellitus Permanent Neonatal Associate 35856135
Fetal Growth Retardation Associate 35856135