NXN (Nucleoredoxin) Gene
A comprehensive resource on NXN gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | NXN |
|---|---|
| Full Name | Nucleoredoxin |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 64359 ncbi.nlm.nih.gov/gene/64359 |
| Ensembl ID | ENSG00000167693 |
| UniProt ID | Q6DKJ4 |
| OMIM ID | 612160 |
| HGNC ID | 18011 |
| Aliases | NRX, TRX2, thioredoxin-like protein 2 |
Description
NXN (nucleoredoxin) encodes a member of the thioredoxin family of redox proteins. It functions as a negative regulator of the Wnt/β-catenin signaling pathway by interacting with Dishevelled (DVL) in a redox-dependent manner. NXN is involved in cellular responses to oxidative stress, cell proliferation, and differentiation. Its dysregulation has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of NXN expression leads to aberrant Wnt/β-catenin activation, promoting tumorigenesis. | PMID: 20010870, COSMIC |
| Hepatocellular carcinoma | Reduced NXN levels correlate with increased β-catenin activity and poor prognosis. | PMID: 23431147 |
| Breast cancer | NXN downregulation associated with aggressive tumor phenotypes and metastasis. | PMID: 25636800 |
| Neurodevelopmental disorders | Mutations in NXN linked to intellectual disability and microcephaly. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Colon | 15.2 | Medium |
| Breast | 6.7 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 9.2 | Medium expression |
| HCT116 | 5.1 | Low expression |
| MCF7 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | missense | 0.02% | Impaired DVL binding, reduced Wnt inhibition |
| c.487_489del (p.Lys163del) | deletion | <0.01% | In-frame deletion, altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Most reported NXN mutations result in loss of function, leading to unchecked Wnt/β-catenin signaling.
Gain of Function (GOF)
No gain-of-function mutations have been documented in NXN.
Dominant Negative (DN)
No dominant-negative mutations have been reported for NXN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Oxidative stress response (Reactome: R-HSA-3371511)
Protein Summary
Nucleoredoxin (NXN) is a 434-amino acid protein belonging to the thioredoxin family. It contains a conserved thioredoxin domain and a C-terminal redox-active site. NXN acts as a redox sensor, modulating the Wnt/β-catenin pathway by binding to Dishevelled (DVL) under oxidative conditions. It is widely expressed, with highest levels in testis and brain. NXN also interacts with other proteins such as p53 and NF-κB, linking redox status to cell survival and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXNL1 Knockout HEK293 Cell Line | EDJ-KQ7539 | Human | 115861 | Details Get a Quote |
| NXN Knockout HEK293 Cell Line | EDJ-KQ14533 | Human | 64359 | Details Get a Quote |
| NXNL2 Knockout HEK293 Cell Line | EDJ-KQ14534 | Human | 158046 | Details Get a Quote |
| NXN Knockout A-549 Cell Line | EDJ-KQ44813 | Human | 64359 | Details Get a Quote |
| NXN Knockout HCT 116 Cell Line | EDJ-KQ44814 | Human | 64359 | Details Get a Quote |
| NXN Knockout HeLa Cell Line | EDJ-KQ44815 | Human | 64359 | Details Get a Quote |
| NXNL2 Knockout HeLa Cell Line | EDJ-KQ44816 | Human | 158046 | Details Get a Quote |
| NXNL1 Knockout HeLa Cell Line | EDJ-KQ57964 | Human | 115861 | Details Get a Quote |
| NXNL1 Knockout A-549 Cell Line | EDJ-KQ66455 | Human | 115861 | Details Get a Quote |
| NXNL2 Knockout A-549 Cell Line | EDJ-KQ67257 | Human | 158046 | Details Get a Quote |
| NXNL1 Knockout HCT 116 Cell Line | EDJ-KQ74877 | Human | 115861 | Details Get a Quote |
| NXNL2 Knockout HCT 116 Cell Line | EDJ-KQ75656 | Human | 158046 | Details Get a Quote |
