TXNDC17
Thioredoxin Domain Containing 17
Gene Information Card
| Symbol | TXNDC17 |
|---|---|
| Full Name | Thioredoxin Domain Containing 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 84817 ncbi.nlm.nih.gov/gene/84817 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q9BRA2 |
| OMIM ID | 617779 |
| HGNC ID | 28759 |
| Aliases | TRP14, TXNL5, FLJ14840 |
Description
TXNDC17 (Thioredoxin Domain Containing 17) is a protein-coding gene located on chromosome 17p13.1. It encodes a member of the thioredoxin family, characterized by a conserved thioredoxin domain. The protein functions as a disulfide reductase, playing a role in redox regulation and cellular stress responses. It is involved in the reduction of oxidized proteins and may participate in signaling pathways related to oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered redox balance; TXNDC17 may modulate tumor cell survival under oxidative stress | Limited; expression changes observed in some cancer types (COSMIC) |
| Neurodegenerative disorders | Potential role in oxidative stress response; thioredoxin family members implicated in neuroprotection | Indirect; based on homology and pathway involvement |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Heart | 9.3 | Low |
| Brain | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| HepG2 | 10.8 | Liver cancer cells |
| K562 | 8.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide oxidoreductase activity | • thioredoxin-disulfide reductase activity |
| • cell redox homeostasis | • response to oxidative stress |
Pathways
• Thioredoxin pathway
• Cellular response to oxidative stress
Protein Summary
The TXNDC17 protein (UniProt Q9BRA2) is a 14 kDa thioredoxin domain-containing protein. It functions as a disulfide reductase, catalyzing the reduction of disulfide bonds in target proteins. The protein is localized in the cytoplasm and nucleus, and is involved in maintaining cellular redox balance. Its structure includes a conserved CXXC active site motif typical of thioredoxins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC17 Knockout HEK293 Cell Line | EDJ-KQ10207 | Human | 84817 | Details Get a Quote |
| TXNDC17 Knockout A-549 Cell Line | EDJ-KQ37357 | Human | 84817 | Details Get a Quote |
| TXNDC17 Knockout HCT 116 Cell Line | EDJ-KQ37358 | Human | 84817 | Details Get a Quote |
| TXNDC17 Knockout HeLa Cell Line | EDJ-KQ37359 | Human | 84817 | Details Get a Quote |
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