TXNDC12 (Thioredoxin Domain Containing 12)
A gene encoding a thioredoxin domain-containing protein involved in redox regulation and protein folding.
Gene Information Card
| Symbol | TXNDC12 |
|---|---|
| Full Name | Thioredoxin Domain Containing 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 51060 ncbi.nlm.nih.gov/gene/51060 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q9C0B1 |
| OMIM ID | 614584 |
| HGNC ID | 28673 |
| Aliases | TLP19, ERP19, PDIA15, TXNDC12 |
Description
TXNDC12 encodes a 19 kDa thioredoxin domain-containing protein localized to the endoplasmic reticulum. It functions as a protein disulfide isomerase (PDI) family member, catalyzing thiol-disulfide exchange reactions essential for proper protein folding and redox homeostasis. The protein is also known as ERp19 or TLP19.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of TXNDC12 expression may alter ER stress response and apoptosis, promoting tumorigenesis. | COSMIC; literature review |
| Neurodegenerative disorders | Impaired redox balance and protein misfolding in ER may contribute to pathology. | UniProt; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Pancreas | 9.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma |
| HEK 293 | 11.7 | Embryonic kidney |
| HeLa | 9.8 | Cervical adenocarcinoma |
| A549 | 8.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.389G>A (p.Arg130His) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • protein folding (GO:0006457) | • cell redox homeostasis (GO:0045454) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Unfolded protein response (Reactome: R-HSA-381119)
Protein Summary
TXNDC12 encodes a 172-amino acid protein (ERp19) with a single thioredoxin-like domain containing a CXXC active site motif. It localizes to the endoplasmic reticulum and acts as a chaperone and oxidoreductase, facilitating disulfide bond formation and rearrangement during protein folding. The protein is ubiquitously expressed with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC12 Knockout HEK293 Cell Line | EDJ-KQ10895 | Human | 51060 | Details Get a Quote |
| TXNDC12 Knockout A-549 Cell Line | EDJ-KQ37300 | Human | 51060 | Details Get a Quote |
| TXNDC12 Knockout HCT 116 Cell Line | EDJ-KQ38595 | Human | 51060 | Details Get a Quote |
| TXNDC12 Knockout HeLa Cell Line | EDJ-KQ38596 | Human | 51060 | Details Get a Quote |
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