UGT2B17
Chr 4UDP glucuronosyltransferase family 2 member B17
Also known as: BMND12, UDPGT2B17
The encoded UDP-glucuronosyltransferase catalyzes glucuronidation of steroid hormones including androgens and estrogens, facilitating their excretion by increasing water solubility. Copy number variation in this gene is associated with susceptibility to osteoporosis and bone mineral density quantitative trait loci, with inheritance patterns related to the specific genomic variation present.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UGT2B17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study of Belzutifan (MK-6482) as Monotherapy and in Combination With Lenvatinib (E7080/MK-7902) With or Without Pembrolizumab (MK-3475) in China Participants With Advanced Renal Cell Carcinoma (MK-6482-010)
ACTIVE NOT RECRUITINGContribution of UGT2B17 to the Pharmacokinetics of Diclofenac
RECRUITINGExternal Resources
Links to major genomics databases and tools