HSD17B11

Chr 4

hydroxysteroid 17-beta dehydrogenase 11

Also known as: 17-BETA-HSD11, 17-BETA-HSDXI, 17BHSD11, DHRS8, PAN1B, RETSDR2, SDR16C2

NCBI Gene: 51170ENSG00000198189UniProt: Q8NBQ5OMIM: 612831

Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.46
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score 0.37
OE 0.89 (0.56–1.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.84Z-score
OE missense 0.81 (0.70–0.94)
125 obs / 154.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.89 (0.56–1.46)
0≤0.351.4
Missense OE?0.81 (0.70–0.94)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 11 / 12.4Missense obs/exp: 125 / 154.5Syn Z: 1.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSD17B11 · 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