PDIA2: Protein Disulfide Isomerase Family A Member 2
A key oxidoreductase in the endoplasmic reticulum involved in protein folding and redox homeostasis
Gene Information Card
| Symbol | PDIA2 |
|---|---|
| Full Name | Protein Disulfide Isomerase Family A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 64714 ncbi.nlm.nih.gov/gene/64714 |
| Ensembl ID | ENSG00000196411 |
| UniProt ID | Q96C11 |
| OMIM ID | 608012 |
| HGNC ID | 16967 |
| Aliases | PDIp, PDI2, ERp59, TXNDC7 |
Description
PDIA2 encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) oxidoreductases. The encoded protein catalyzes the formation, reduction, and isomerization of disulfide bonds in nascent proteins, facilitating proper protein folding and quality control in the ER. PDIA2 is highly expressed in the pancreas and is involved in the maturation of secretory proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic cancer | Overexpression of PDIA2 may contribute to ER stress adaptation and tumor progression | COSMIC; PMID: 25691885 |
| Diabetes mellitus (type 1) | PDIA2 is a known autoantigen in type 1 diabetes, targeted by autoantibodies | OMIM 608012; PMID: 12663460 |
| Multiple myeloma | Upregulation of PDIA2 supports protein folding in malignant plasma cells | COSMIC; PMID: 28490518 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 68.5 | High |
| Salivary gland | 22.3 | Medium |
| Liver | 12.1 | Medium |
| Kidney | 8.4 | Low |
| Testis | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 45.2 | High expression |
| HepG2 (liver cancer) | 18.7 | Moderate expression |
| HEK293 (embryonic kidney) | 9.5 | Low expression |
| K562 (leukemia) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect; rare population variant |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Predicted benign; no known disease association |
| c.1024_1026del (p.Lys342del) | In-frame deletion | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum protein processing (KEGG: hsa04141)
• Protein processing in endoplasmic reticulum (Reactome: R-HSA-901042)
Protein Summary
PDIA2 is a 525-amino acid protein with a molecular weight of approximately 59 kDa. It contains two thioredoxin-like domains (a and a') with active site CGHC motifs, which mediate thiol-disulfide exchange. The protein localizes to the endoplasmic reticulum and is involved in oxidative protein folding. PDIA2 is particularly abundant in pancreatic acinar cells, where it assists in the maturation of digestive enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDIA2 Knockout HEK293 Cell Line | EDJ-KQ11914 | Human | 64714 | Details Get a Quote |
| PDIA2 Knockout HeLa Cell Line | EDJ-KQ57074 | Human | 64714 | Details Get a Quote |
| PDIA2 Knockout A-549 Cell Line | EDJ-KQ65586 | Human | 64714 | Details Get a Quote |
| PDIA2 Knockout HCT 116 Cell Line | EDJ-KQ74016 | Human | 64714 | Details Get a Quote |
