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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYB5R4
cytochrome b5 reductase 4
Chromosome 6 · 6q14.2
NCBI Gene: 51167Ensembl: ENSG00000065615.15HGNC: HGNC:20147UniProt: Q7L1T6
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
superoxide metabolic processNAD(P)H oxidase H2O2-forming activityperinuclear region of cytoplasmoxidoreductase activity, acting on NAD(P)H, heme protein as acceptorneurodegenerative diseasemultiple sclerosisParkinson diseaseAlzheimer disease
✦AI Summary

CYB5R4 (cytochrome b5 reductase 4) is an NADH-dependent oxidoreductase that functions as a critical regulator of cellular redox homeostasis and endothelial proliferation. The enzyme reduces diverse substrates including cytochrome c and methemoglobin, with localization to the endoplasmic reticulum and cytoplasm 1. In endothelial cells, CYB5R4 sustains proliferation and ischemia-induced angiogenesis through an RRM2-dependent mechanism involving nucleotide pool balance rather than through its canonical stearoyl-CoA desaturase-promoting function 1. CYB5R4 is implicated in protection against oxidative stress and appears essential for podocyte cytoskeletal integrity, with silencing causing significant downregulation of synaptopodin 2. Clinically, CYB5R4 emerges as a key endoplasmic reticulum stress-related gene in osteoporosis pathogenesis, upregulated in disease models and included in a seven-gene diagnostic model with >0.9 AUC for early osteoporosis detection 3. CYB5R4 variants also show associations with energy-balance regulation and glucose-induced hormonal responses in human populations 4. Additionally, de novo truncation variants in CYB5R4 have been identified in neurodevelopmental disorders 5, and under-expression of CYB5R4 occurs in infertile males with defective spermatogenesis 6, suggesting roles in cellular development and gametogenesis. These findings position CYB5R4 as a multifunctional redox enzyme with therapeutic potential in vascular and metabolic diseases.

Sources cited
1
CYB5R4 sustains endothelial proliferation and ischemia-induced angiogenesis by maintaining RRM2-dependent nucleotide balance through an SCD-independent mechanism
PMID: 41000936
2
CYB5R4 is an endoplasmic reticulum stress-related gene upregulated in osteoporosis and part of a seven-gene diagnostic model with AUC >0.9 for osteoporosis detection
PMID: 40918403
3
CYB5R4 is essential for podocyte cytoskeletal structure and function, with deficiency causing downregulation of synaptopodin
PMID: 28709640
4
CYB5R4 variants are marked with signals of gene-environment interactions in energy-balance regulation
PMID: 25222615
5
CYB5R4 is under-expressed in infertile males and classified as a DNA repair gene with implications for spermatogenesis
PMID: 30031388
6
De novo truncation variants in CYB5R4 have been identified in neurodevelopmental disorder patients
PMID: 32530565
7
CYB5R4 can be efficiently expressed in primary vascular endothelial cells using plasmid transfection with STING inhibition
PMID: 38990864
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
multiple sclerosisOpen Targets
0.38Weak
Parkinson diseaseOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
response to antihypertensive drugOpen Targets
0.25Weak
esophageal diseaseOpen Targets
0.24Weak
MODYOpen Targets
0.06Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.05Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
chronic pancreatitisOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
ovarian cancerOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.05Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
hereditary chronic pancreatitisOpen Targets
0.05Suggestive
Partial pancreatic agenesisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CYB5BProtein interaction100%PORProtein interaction97%SCDProtein interaction97%DHODHProtein interaction94%FDXRProtein interaction94%UMPSProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
73%
Lung
65%
Heart
48%
Liver
30%
Ovary
28%
Gene Interaction Network
Click a node to explore
CYB5R4CYB5BPORSCDDHODHFDXRUMPS
PROTEIN STRUCTURE
Preparing viewer…
PDB3LF5 · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.42–0.81]
RankingsWhere CYB5R4 stands among ~20K protein-coding genes
  • #13,639of 20,598
    Most Researched22
  • #6,883of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedCYB5R4
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Identification of Endoplasmic Reticulum Stress-Related Genes in Osteoporosis Pathogenesis.
PMID: 40918403
Mediators Inflamm · 2025
1.00
2
Adaptive human CDKAL1 variants underlie hormonal response variations at the enteroinsular axis.
PMID: 25222615
PLoS One · 2014
0.88
3
Genetic and epigenetic profiling of the infertile male.
PMID: 30897172
PLoS One · 2019
0.75
4
CYB5R4 sustains endothelial proliferation and ischemia-induced angiogenesis by maintaining RRM2-dependent nucleotide balance.
PMID: 41000936
bioRxiv · 2025
0.63
5
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
PMID: 32530565
Ann Clin Transl Neurol · 2020
0.50