CYB5RL (Cytochrome b5 Reductase Like)
A pseudogene-derived gene with potential roles in redox metabolism and cancer
Gene Information Card
| Symbol | CYB5RL |
|---|---|
| Full Name | Cytochrome b5 reductase like |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 340533 ncbi.nlm.nih.gov/gene/340533 |
| Ensembl ID | ENSG00000203727 |
| UniProt ID | A6NGB9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37279 |
| Aliases | CYB5R4L, MGC16169 |
Description
CYB5RL is a protein-coding gene located on chromosome 1p36.31. It is predicted to encode a protein similar to cytochrome b5 reductases, which are involved in electron transfer and redox metabolism. The gene is expressed in various tissues, with notable levels in the liver and kidney. Its function is not fully characterized, but it may play a role in cellular redox balance and has been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential mutation may affect redox metabolism, promoting tumorigenesis. | COSMIC database lists somatic mutations in CYB5RL across multiple cancer types. |
| Not associated with specific Mendelian disorders | No disease-causing germline mutations have been reported in ClinVar. | ClinVar has no pathogenic variants for CYB5RL. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.1 | Low |
| Lung | 5.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.3 | High expression |
| A549 (lung cancer) | 6.7 | Moderate expression |
| MCF7 (breast cancer) | 3.2 | Low expression |
| K562 (leukemia) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ser41Phe) | Missense | 0.001% (gnomAD) | Unknown; may affect protein stability |
| c.456A>G (p.Ile152Val) | Missense | 0.002% (gnomAD) | Unknown; possibly benign |
| c.789delC (p.Pro264LeufsTer5) | Frameshift | Rare | Predicted loss-of-function; may lead to nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing redox regulation.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CYB5RL.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • electron transfer activity |
| • heme binding | • membrane |
Pathways
• Metabolic pathways
• Oxidative stress response
Protein Summary
The CYB5RL protein is predicted to be a membrane-bound oxidoreductase with a cytochrome b5-like heme-binding domain. It likely participates in electron transfer reactions, possibly in lipid metabolism or detoxification. Its exact substrate and physiological role remain to be determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYB5RL Knockout HEK293 Cell Line | EDJ-KQ13067 | Human | 606495 | Details Get a Quote |
| CYB5RL Knockout A-549 Cell Line | EDJ-KQ42340 | Human | 606495 | Details Get a Quote |
| CYB5RL Knockout HCT 116 Cell Line | EDJ-KQ42341 | Human | 606495 | Details Get a Quote |
| CYB5RL Knockout HeLa Cell Line | EDJ-KQ42342 | Human | 606495 | Details Get a Quote |
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