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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYB5D1
cytochrome b5 domain containing 1
Chromosome 17 Β· 17p13.1
NCBI Gene: 124637Ensembl: ENSG00000182224.12HGNC: HGNC:26516UniProt: Q6P9G0
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium movementregulation of cilium beat frequencyflagellated sperm motilityciliummusculoskeletal system diseaseBack painhypertensionCOVID-19
✦AI Summary

Based on limited published evidence, CYB5D1 encodes a radial spoke stalk protein containing a cytochrome b5 domain that binds heme under oxidizing conditions. UniProt annotations indicate it functions in ciliary motility, potentially regulating cilium beat frequency through redox signaling pathways in motile cilia and flagellated sperm. CYB5D1 has been identified as a hypomethylated gene associated with renal aging and kidney function decline 1, and notably demonstrated strong prognostic value as a single-gene survival predictor in breast cancer analysis 2. However, mechanistic details of its biological functions remain largely unexplored.

Sources cited
1
CYB5D1 identified as hypomethylated in participants with higher eGFR decline rate and older age, suggesting association with renal aging and renal function decline
PMID: 38879526
2
CYB5D1 expression showed the best prognostic performance as a single-gene predictor for breast cancer survival prediction
PMID: 19851466
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
musculoskeletal system diseaseOpen Targets
0.24Weak
Back painOpen Targets
0.22Weak
hypertensionOpen Targets
0.21Weak
COVID-19Open Targets
0.16Weak
clonal hematopoiesisOpen Targets
0.14Weak
cardiovascular diseaseOpen Targets
0.11Weak
essential hypertensionOpen Targets
0.10Suggestive
goutOpen Targets
0.08Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.05Suggestive
Ascher syndromeOpen Targets
0.05Suggestive
thyroid diseaseOpen Targets
0.04Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.04Suggestive
X-linked intellectual disability - epilepsyOpen Targets
0.04Suggestive
amelogenesis imperfectaOpen Targets
0.04Suggestive
OligodontiaOpen Targets
0.04Suggestive
tooth agenesisOpen Targets
0.04Suggestive
lissencephaly 10Open Targets
0.03Suggestive
developmental and epileptic encephalopathy 104Open Targets
0.03Suggestive
chorea-acanthocytosisOpen Targets
0.03Suggestive
ChoreoacanthocytosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CFAP43Shared pathway75%DNALI1Protein interaction70%CFAP251Shared pathway67%DYDC1Shared pathway67%DRC10Shared pathway67%DRC8Shared pathway67%
Tissue Expression6 tissues
Heart
100%
Ovary
68%
Lung
48%
Brain
47%
Liver
43%
Bone Marrow
38%
Gene Interaction Network
Click a node to explore
CYB5D1CFAP43DNALI1CFAP251DYDC1DRC10DRC8
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.58LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.17 [0.87–1.58]
RankingsWhere CYB5D1 stands among ~20K protein-coding genes
  • #17,567of 20,598
    Most Researched8
  • #15,588of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedCYB5D1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
DNA methylation in peripheral blood is associated with renal aging and renal function decline: a national community study.
PMID: 38879526
Clin Epigenetics Β· 2024
1.00
2
Can survival prediction be improved by merging gene expression data sets?
PMID: 19851466
PLoS One Β· 2009
0.50