BDH2

Chr 4

3-hydroxybutyrate dehydrogenase 2

Also known as: DHRS6, EFA6R, PRO20933, SDR15C1, UCPA-OR, UNQ6308

NCBI Gene: 56898ENSG00000164039UniProt: Q9BUT1

Enables 3-hydroxybutyrate dehydrogenase activity and NAD binding activity. Involved in epithelial cell differentiation and fatty acid beta-oxidation. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.38
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.38LOEUF
pLI 0.000
Z-score 0.52
OE 0.85 (0.54–1.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.88 (0.76–1.02)
121 obs / 137.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.54–1.38)
0≤0.351.4
Missense OE?0.88 (0.76–1.02)
0≤0.61.4
Synonymous OE?0.70
0≤1.21.6
LoF obs/exp: 12 / 14.1Missense obs/exp: 121 / 137.3Syn Z: 1.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BDH2 · 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