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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PDIA6
protein disulfide isomerase family A member 6
Chromosome 2 · 2p25.1
NCBI Gene: 10130Ensembl: ENSG00000143870.14HGNC: HGNC:30168UniProt: A0A384NPU5
267PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum-Golgi intermediate compartmentGO:0005615protein-disulfide reductase activityneurodegenerative diseasemathematical abilityspondylolisthesisskin disease
✦AI Summary

PDIA6 (protein disulfide isomerase family A member 6) functions as a multifaceted chaperone in the endoplasmic reticulum with critical roles in protein folding homeostasis and disease progression. PDIA6 forms Ca2+-dependent multichaperone condensates in the ER lumen that recruit essential folding machinery components including BiP, ERdj3, PDIA1, and Grp94, enhancing protein folding efficiency and preventing misfolding 1. The protein exhibits dual regulatory functions in cellular stress responses, acting as a chaperone that inhibits protein aggregation while negatively regulating the unfolded protein response through interactions with UPR sensors. Dysregulated PDIA6 expression contributes significantly to multiple disease states. In pancreatic cancer, PDIA6 promotes cell proliferation and immune evasion, with its upregulation mediated by RBM47 binding to its 3'-UTR region 2. Similarly, PDIA6 expression is elevated in prostate adenocarcinoma, where knockdown substantially reduces cancer cell proliferation 3. In breast cancer, increased PDIA6 expression correlates with lymph node metastasis and tumor aggressiveness 4. Additionally, PDIA6 plays a protective role against oxidative stress-induced cellular senescence, as its targeting by miR-181a contributes to hydrogen peroxide-mediated cellular damage 5. PDIA6 has also been implicated in diabetes pathogenesis, where it inhibits pancreatic β-cell proliferation and promotes apoptosis 6.

Sources cited
1
PDIA6 forms Ca2+-dependent multichaperone condensates in the ER lumen that enhance protein folding
PMID: 40789936
2
PDIA6 promotes pancreatic cancer cell proliferation and immune evasion, upregulated by RBM47
PMID: 39741300
3
PDIA6 expression is elevated in prostate adenocarcinoma and its knockdown reduces cancer cell proliferation
PMID: 38030170
4
Increased PDIA6 expression correlates with lymph node metastasis and aggressiveness in breast cancer
PMID: 26125904
5
PDIA6 is targeted by miR-181a and protects against oxidative stress-induced cellular senescence
PMID: 36244946
6
PDIA6 inhibits pancreatic β-cell proliferation and promotes apoptosis in diabetes pathogenesis
PMID: 38742851
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
mathematical abilityOpen Targets
0.36Weak
spondylolisthesisOpen Targets
0.26Weak
skin diseaseOpen Targets
0.26Weak
immune system diseaseOpen Targets
0.25Weak
pachyonychia congenitaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
endometrial cancerOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.05Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.05Suggestive
activated PI3K-delta syndromeOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_005742.4(PDIA6):c.702del (p.Arg235fs)Likely pathogenic
See cases
★☆☆☆2022→ Residue 235
View on ClinVar ↗
Related Genes
ERP27Shared pathway100%HYOU1Protein interaction94%CALRProtein interaction89%ERN1Protein interaction89%HSPA5Protein interaction89%DNAJC3Protein interaction89%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
96%
Heart
93%
Lung
81%
Brain
73%
Ovary
55%
Gene Interaction Network
Click a node to explore
PDIA6ERP27HYOU1CALRERN1HSPA5DNAJC3
PROTEIN STRUCTURE
Preparing viewer…
PDB4EF0 · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.38Tolerant
Observed/Expected LoF0.40 [0.27–0.62]
RankingsWhere PDIA6 stands among ~20K protein-coding genes
  • #1,401of 20,598
    Most Researched267 · top 10%
  • #4,682of 5,498
    Most Pathogenic Variants1
  • #4,329of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedPDIA6
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
ER stress-induced cell death mechanisms.
PMID: 23850759
Biochim Biophys Acta · 2013
1.00
2
Exploration of shared gene signatures and molecular mechanisms between type 2 diabetes and osteoporosis.
PMID: 38742851
J Cell Mol Med · 2024
0.90
3
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig · 2024
0.80
4
A multichaperone condensate enhances protein folding in the endoplasmic reticulum.
PMID: 40789936
Nat Cell Biol · 2025
0.70
5
RBM47 promotes cell proliferation and immune evasion by upregulating PDIA6: a novel mechanism of pancreatic cancer progression.
PMID: 39741300
J Transl Med · 2024
0.60