QSOX2: Quiescin Sulfhydryl Oxidase 2
A flavin-dependent sulfhydryl oxidase involved in oxidative protein folding and redox regulation.
Gene Information Card
| Symbol | QSOX2 |
|---|---|
| Full Name | Quiescin Sulfhydryl Oxidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 169714 ncbi.nlm.nih.gov/gene/169714 |
| Ensembl ID | ENSG00000165661 |
| UniProt ID | Q6ZRP7 |
| OMIM ID | 611240 |
| HGNC ID | 25451 |
| Aliases | SOXN, QSCN6L1, FLJ14675 |
Description
QSOX2 (Quiescin Sulfhydryl Oxidase 2) encodes a flavin-dependent sulfhydryl oxidase that catalyzes the formation of disulfide bonds in proteins, playing a key role in oxidative protein folding in the endoplasmic reticulum. It is involved in redox homeostasis and cell proliferation. The gene is located on chromosome 9q34.3 and is expressed in various tissues, with highest levels in the placenta, kidney, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of QSOX2 may promote tumor growth by enhancing oxidative protein folding and reducing oxidative stress in cancer cells. | COSMIC; literature |
| Neuroblastoma | QSOX2 expression is associated with poor prognosis and may contribute to tumor progression. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 38.2 | High |
| Kidney | 22.1 | Medium |
| Testis | 18.5 | Medium |
| Liver | 12.3 | Medium |
| Lung | 8.7 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| A549 | 10.2 | Lung cancer cells |
| MCF7 | 9.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional effect |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp189*) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oxidative protein folding (Reactome: R-HSA-8866423)
• Endoplasmic reticulum protein processing (KEGG: hsa04141)
Protein Summary
QSOX2 is a 604-amino acid flavoprotein containing a thioredoxin domain and an ERV1-like domain. It localizes to the endoplasmic reticulum and extracellular space, where it introduces disulfide bonds into substrate proteins. It is implicated in redox regulation and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QSOX2 Knockout HEK293 Cell Line | EDJ-KQ14973 | Human | 169714 | Details Get a Quote |
| QSOX2 Knockout A-549 Cell Line | EDJ-KQ45461 | Human | 169714 | Details Get a Quote |
| QSOX2 Knockout HCT 116 Cell Line | EDJ-KQ45462 | Human | 169714 | Details Get a Quote |
| QSOX2 Knockout HeLa Cell Line | EDJ-KQ45463 | Human | 169714 | Details Get a Quote |
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