CYB5R2: Cytochrome b5 Reductase 2
A member of the cytochrome b5 reductase family involved in lipid metabolism and redox regulation
Gene Information Card
| Symbol | CYB5R2 |
|---|---|
| Full Name | Cytochrome b5 reductase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 51700 ncbi.nlm.nih.gov/gene/51700 |
| Ensembl ID | ENSG00000166394 |
| UniProt ID | Q6BCY4 |
| OMIM ID | 608343 |
| HGNC ID | 2873 |
| Aliases | B5R.2, CYB5R, b5R2 |
Description
CYB5R2 encodes a member of the cytochrome b5 reductase family, which catalyzes the reduction of cytochrome b5 using NADH as an electron donor. This enzyme is involved in lipid desaturation, cholesterol biosynthesis, and drug metabolism. The protein localizes to the endoplasmic reticulum and is expressed in multiple tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Methemoglobinemia (recessive) | Deficiency in CYB5R2 leads to impaired reduction of methemoglobin, causing cyanosis. | OMIM #608343; case reports in ClinVar |
| Lipid metabolism disorders | Altered CYB5R2 activity affects fatty acid desaturation and cholesterol synthesis. | NCBI Gene; UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Medium |
| Brain | 2.4 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte-derived line |
| HEK293 | 7.6 | Embryonic kidney line |
| K562 | 3.1 | Leukemia line |
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.287G>A (p.Arg96His) | Missense | <0.01% | Reduced enzyme activity; associated with methemoglobinemia |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce NADH-cytochrome b5 reductase activity, leading to methemoglobinemia.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NADH-cytochrome b5 reductase pathway (Reactome: R-HSA-1483248)
• Fatty acid desaturation (KEGG: hsa01040)
Protein Summary
CYB5R2 is a 34 kDa flavoprotein that transfers electrons from NADH to cytochrome b5, which then participates in various reduction reactions including fatty acid desaturation and cholesterol biosynthesis. The protein contains an N-terminal membrane anchor for ER localization and a conserved FAD-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYB5R2 Knockout HEK293 Cell Line | EDJ-KQ11197 | Human | 51700 | Details Get a Quote |
| CYB5R2 Knockout A-549 Cell Line | EDJ-KQ39257 | Human | 51700 | Details Get a Quote |
| CYB5R2 Knockout HCT 116 Cell Line | EDJ-KQ39258 | Human | 51700 | Details Get a Quote |
| CYB5R2 Knockout HeLa Cell Line | EDJ-KQ39259 | Human | 51700 | Details Get a Quote |
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