TXNIP Gene: Thioredoxin Interacting Protein
A key regulator of cellular redox balance, glucose metabolism, and inflammation, implicated in metabolic and cardiovascular diseases.
Gene Information Card
| Symbol | TXNIP |
|---|---|
| Full Name | Thioredoxin Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 51063 ncbi.nlm.nih.gov/gene/51063 |
| Ensembl ID | ENSG00000117289 |
| UniProt ID | Q9HAZ2 |
| OMIM ID | 606599 |
| HGNC ID | 16959 |
| Aliases | VDUP1, HHCPA78, THIF, ARRDC6 |
Description
TXNIP encodes thioredoxin-interacting protein, a key regulator of cellular redox balance. It binds to thioredoxin (TXN) and inhibits its antioxidant function, leading to increased oxidative stress. TXNIP also plays critical roles in glucose metabolism, inflammation, and apoptosis. It is widely expressed and its dysregulation is linked to various diseases including diabetes, cardiovascular disorders, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus | TXNIP overexpression in pancreatic beta cells induces apoptosis and impairs insulin secretion, contributing to beta-cell failure. | Multiple studies; OMIM 606599 |
| Cardiovascular Diseases | TXNIP promotes oxidative stress and inflammation in endothelial cells and cardiomyocytes, exacerbating ischemia-reperfusion injury and atherosclerosis. | PubMed; COSMIC |
| Cancer | TXNIP acts as a tumor suppressor in some cancers (e.g., breast, colon) by inhibiting cell proliferation and promoting apoptosis; loss of expression is associated with poor prognosis. | COSMIC; PubMed |
| Ischemic Stroke | TXNIP upregulation in neurons triggers oxidative damage and apoptosis, worsening stroke outcomes. | PubMed |
| Non-alcoholic Fatty Liver Disease (NAFLD) | TXNIP contributes to hepatic steatosis and inflammation via oxidative stress and NLRP3 inflammasome activation. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Pancreas | 8.5 | Low |
| Heart | 7.3 | Low |
| Skeletal muscle | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line; moderate expression |
| HepG2 | 18.3 | Hepatocellular carcinoma; high expression |
| MCF7 | 9.8 | Breast cancer; moderate expression |
| A549 | 7.2 | Lung carcinoma; low expression |
| K562 | 5.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247C>T (p.Arg83Cys) | Missense | Rare | Potential loss of function; associated with altered redox regulation |
| c.520G>A (p.Val174Met) | Missense | Rare | Unknown; possibly benign |
| c.1-? (promoter methylation) | Epigenetic | Common in cancer | Silencing of TXNIP expression, leading to tumor progression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations or epigenetic silencing of TXNIP lead to reduced inhibition of thioredoxin, resulting in increased antioxidant capacity and cell survival, which may contribute to cancer progression.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression of TXNIP is associated with increased oxidative stress and apoptosis, particularly in metabolic tissues.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TXNIP.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • thioredoxin binding |
| • enzyme binding | • identical protein binding |
| • signal transducer activity | • regulation of transcription |
| • DNA-templated | • response to oxidative stress |
| • apoptotic process | • glucose homeostasis |
| • inflammatory response | • negative regulation of cell proliferation |
| • regulation of insulin secretion |
Pathways
• Thioredoxin pathway
• Glucose metabolism
• Inflammasome (NLRP3) pathway
• Apoptosis signaling
• Oxidative stress response
Protein Summary
TXNIP is a 46 kDa protein that interacts with thioredoxin (TXN) via a disulfide bond, inhibiting its antioxidant function. It also binds to the NLRP3 inflammasome, promoting its activation. TXNIP is involved in cellular redox homeostasis, glucose and lipid metabolism, and inflammatory responses. Its expression is regulated by glucose and oxidative stress. Structurally, it contains an arrestin-like domain and a PPxY motif, which mediate protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNIP Knockout HEK293 Cell Line | EDJ-KQ3658 | Human | 10628 | Details Get a Quote |
| TXNIP Knockout HeLa Cell Line | EDJ-KQ24253 | Human | 10628 | Details Get a Quote |
| TXNIP Knockout A-549 Cell Line | EDJ-KQ63928 | Human | 10628 | Details Get a Quote |
| TXNIP Knockout HCT 116 Cell Line | EDJ-KQ72385 | Human | 10628 | Details Get a Quote |
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