FOXRED2
FAD-dependent oxidoreductase domain containing 2
Gene Information Card
| Symbol | FOXRED2 |
|---|---|
| Full Name | FAD-dependent oxidoreductase domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 80020 ncbi.nlm.nih.gov/gene/80020 |
| Ensembl ID | ENSG00000100350 |
| UniProt ID | Q8IYI6 |
| OMIM ID | 613722 |
| HGNC ID | 28987 |
| Aliases | FLJ22386, MGC13170 |
Description
FOXRED2 encodes a FAD-dependent oxidoreductase domain-containing protein. The protein is predicted to localize to mitochondria and may be involved in redox reactions. Its exact biological function remains under investigation, but it is implicated in cellular metabolism and mitochondrial processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Potential role in electron transport chain assembly or function | Limited; inferred from homology and expression studies |
| Cancer (various) | Altered expression may affect metabolic reprogramming | COSMIC mutation data; no established causal link |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Liver | 6.1 | Low |
| Heart | 4.5 | Low |
| Skeletal muscle | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.3 | Embryonic kidney |
| HeLa | 5.1 | Cervical carcinoma |
| K562 | 4.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | missense | 0.001% (gnomAD) | Unknown functional impact |
| c.1022C>T (p.Thr341Met) | missense | 0.002% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • FAD binding |
| • mitochondrion | • cellular response to oxidative stress |
Pathways
• Metabolic pathways
• Oxidative phosphorylation (inferred)
Protein Summary
FOXRED2 is a 506-amino acid protein containing a FAD-binding domain. It is predicted to be a mitochondrial oxidoreductase, potentially involved in electron transfer or redox homeostasis. Structural studies suggest it may interact with other mitochondrial proteins, but its precise substrate and pathway remain unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXRED2 Knockout HEK293 Cell Line | EDJ-KQ8666 | Human | 80020 | Details Get a Quote |
| FOXRED2 Knockout A-549 Cell Line | EDJ-KQ36090 | Human | 80020 | Details Get a Quote |
| FOXRED2 Knockout HCT 116 Cell Line | EDJ-KQ36092 | Human | 80020 | Details Get a Quote |
| FOXRED2 Knockout HeLa Cell Line | EDJ-KQ36093 | Human | 80020 | Details Get a Quote |
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