TXNDC16 Gene - Thioredoxin Domain Containing 16
Comprehensive genomic and proteomic analysis of TXNDC16
Gene Information Card
| Symbol | TXNDC16 |
|---|---|
| Full Name | Thioredoxin Domain Containing 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 57544 ncbi.nlm.nih.gov/gene/57544 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P0J0 |
| OMIM ID | 617392 |
| HGNC ID | 28397 |
| Aliases | FLJ10707, MGC138290, MGC138291 |
Description
TXNDC16 encodes a protein containing a thioredoxin domain, which is involved in redox regulation and protein folding. The gene is located on chromosome 14q22.3 and is expressed in various tissues. Its exact biological function is not fully characterized, but it may play a role in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Thyroid | 8.5 | Medium |
| Adrenal gland | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| A549 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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 |
Pathways
• No specific pathways curated in Reactome or KEGG
Protein Summary
The TXNDC16 protein contains a thioredoxin domain and is predicted to be involved in redox regulation. It is localized in the cytoplasm and possibly the endoplasmic reticulum. Its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC16 Knockout HEK293 Cell Line | EDJ-KQ15995 | Human | 57544 | Details Get a Quote |
| TXNDC16 Knockout A-549 Cell Line | EDJ-KQ47049 | Human | 57544 | Details Get a Quote |
| TXNDC16 Knockout HCT 116 Cell Line | EDJ-KQ47050 | Human | 57544 | Details Get a Quote |
| TXNDC16 Knockout HeLa Cell Line | EDJ-KQ47051 | Human | 57544 | Details Get a Quote |
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