PDIA6: Protein Disulfide Isomerase Family A Member 6
A key regulator of protein folding and endoplasmic reticulum stress response
Gene Information Card
| Symbol | PDIA6 |
|---|---|
| Full Name | Protein Disulfide Isomerase Family A Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 10130 ncbi.nlm.nih.gov/gene/10130 |
| Ensembl ID | ENSG00000143870 |
| UniProt ID | Q15084 |
| OMIM ID | 609546 |
| HGNC ID | 30185 |
| Aliases | ERP5, P5, TXNDC7 |
Description
PDIA6 encodes a member of the protein disulfide isomerase (PDI) family, which catalyzes the formation, reduction, and isomerization of disulfide bonds in the endoplasmic reticulum (ER). It plays a critical role in protein folding and the unfolded protein response (UPR), particularly under ER stress conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus Type 2 | PDIA6 regulates insulin biosynthesis and ER stress in pancreatic beta cells; altered expression may contribute to beta-cell dysfunction. | PMID: 25687212 |
| Cancer (various) | Overexpression in multiple cancers (e.g., breast, lung) promotes cell survival under ER stress and chemoresistance. | PMID: 29367603 |
| Neurodegenerative diseases | PDIA6 modulates ER stress and protein aggregation in models of Alzheimer's and Parkinson's disease. | PMID: 31073084 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Brain | 7.1 | Low |
| Heart | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Moderate expression |
| MCF7 | 11.4 | Moderate expression |
| A549 | 10.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113G>A (p.Arg38His) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Predicted damaging; may affect disulfide isomerase activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in promoting cell survival.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Unfolded Protein Response (UPR) - Reactome R-HSA-381119
• Endoplasmic Reticulum Stress Pathway - KEGG hsa04141
• Protein Processing in Endoplasmic Reticulum - KEGG hsa04141
Protein Summary
PDIA6 is a 440-amino acid protein localized to the endoplasmic reticulum. It contains two thioredoxin-like domains (a and a') with active site CGHC motifs, enabling it to catalyze disulfide bond formation and isomerization. PDIA6 interacts with ER stress sensors (e.g., IRE1α) and modulates the UPR, influencing cell fate decisions under stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDIA6 Knockout HEK293 Cell Line | EDJ-KQ6907 | Human | 10130 | Details Get a Quote |
| PDIA6 Knockout A-549 Cell Line | EDJ-KQ31536 | Human | 10130 | Details Get a Quote |
| PDIA6 Knockout HCT 116 Cell Line | EDJ-KQ31537 | Human | 10130 | Details Get a Quote |
| PDIA6 Knockout HeLa Cell Line | EDJ-KQ31538 | Human | 10130 | Details Get a Quote |
