CYB5D2

Chr 17

cytochrome b5 domain containing 2

NCBI Gene: 124936ENSG00000167740UniProt: Q8WUJ1

Predicted to enable heme binding activity and steroid binding activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in endomembrane system and membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.46
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score 0.47
OE 0.84 (0.51–1.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.61Z-score
OE missense 1.13 (1.00–1.27)
193 obs / 170.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.51–1.46)
0≤0.351.4
Missense OE?1.13 (1.00–1.27)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 9 / 10.7Missense obs/exp: 193 / 170.7Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CYB5D2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients