TXNDC5 Gene (Thioredoxin Domain Containing 5)
A key regulator of endoplasmic reticulum stress and redox homeostasis
Gene Information Card
| Symbol | TXNDC5 |
|---|---|
| Full Name | Thioredoxin Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 81567 ncbi.nlm.nih.gov/gene/81567 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8NBS9 |
| OMIM ID | 615834 |
| HGNC ID | 25435 |
| Aliases | ERP46, FLJ32130, MGC3178, UNQ323 |
Description
TXNDC5 encodes a member of the thioredoxin family of redox-active enzymes. The protein localizes to the endoplasmic reticulum (ER) and functions as a disulfide isomerase, playing a critical role in protein folding and redox homeostasis. It is induced by ER stress and hypoxia, and its expression is associated with various cancers and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression promotes cell proliferation and metastasis via ER stress pathway | PMID: 25944712 |
| Lung cancer | Upregulation correlates with poor prognosis and chemoresistance | PMID: 27323851 |
| Cardiac fibrosis | Induced by TGF-β1, contributes to fibroblast activation | PMID: 28467929 |
| Diabetic nephropathy | Increased expression in renal tubules under high glucose | PMID: 25635068 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.7 | Medium |
| Heart | 4.2 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| HEK293 | 7.1 | Embryonic kidney cells |
| MCF7 | 5.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional effect |
| c.538G>A (p.Gly180Ser) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity | • endoplasmic reticulum lumen |
| • response to endoplasmic reticulum stress | • cell redox homeostasis |
| • protein folding |
Pathways
• Endoplasmic reticulum stress response
• Unfolded protein response (UPR)
• TGF-β signaling pathway
Protein Summary
TXNDC5 is a 46 kDa thioredoxin domain-containing protein localized to the ER. It catalyzes disulfide bond formation and rearrangement during protein folding, and its expression is upregulated under ER stress. The protein interacts with ER chaperones and is implicated in cellular protection against oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC5 Knockout HEK293 Cell Line | EDJ-KQ3556 | Human | 81567 | Details Get a Quote |
| TXNDC5 Knockout A-549 Cell Line | EDJ-KQ25416 | Human | 81567 | Details Get a Quote |
| TXNDC5 Knockout HCT 116 Cell Line | EDJ-KQ25417 | Human | 81567 | Details Get a Quote |
| TXNDC5 Knockout HeLa Cell Line | EDJ-KQ25418 | Human | 81567 | Details Get a Quote |
