TXNDC11
Thioredoxin Domain Containing 11
Gene Information Card
| Symbol | TXNDC11 |
|---|---|
| Full Name | Thioredoxin Domain Containing 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51061 ncbi.nlm.nih.gov/gene/51061 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q6PKC3 |
| OMIM ID | 617745 |
| HGNC ID | 28850 |
| Aliases | FLJ11273, MGC131971, dJ222E13.1 |
Description
TXNDC11 encodes a protein containing a thioredoxin domain, which is involved in redox regulation and may function as a protein disulfide isomerase in the endoplasmic reticulum. The gene is located on chromosome 16p13.3 and is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 8.1 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.0 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.2045C>T (p.Pro682Leu) | Missense | <0.01% (gnomAD) | Unknown functional effect |
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 confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity | • thioredoxin-disulfide reductase activity |
| • endoplasmic reticulum lumen | • protein folding |
| • cell redox homeostasis |
Pathways
• Protein processing in endoplasmic reticulum (Reactome: R-HSA-901042)
Protein Summary
The TXNDC11 protein (UniProt Q6PKC3) is a 506-amino acid thioredoxin domain-containing protein localized to the endoplasmic reticulum. It possesses protein disulfide isomerase activity and is involved in redox homeostasis and protein folding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNDC11 Knockout HEK293 Cell Line | EDJ-KQ10896 | Human | 51061 | Details Get a Quote |
| TXNDC11 Knockout A-549 Cell Line | EDJ-KQ38597 | Human | 51061 | Details Get a Quote |
| TXNDC11 Knockout HCT 116 Cell Line | EDJ-KQ38598 | Human | 51061 | Details Get a Quote |
| TXNDC11 Knockout HeLa Cell Line | EDJ-KQ38599 | Human | 51061 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
