UGT2B17

Chr 4

UDP glucuronosyltransferase family 2 member B17

Also known as: BMND12, UDPGT2B17

NCBI Gene: 7367ENSG00000197888UniProt: O75795OMIM: 601903

This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Bone mineral density QTL 12, osteoporosis}MIM #612560
2
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.05
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.38
OE 0.67 (0.44–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.88 (0.79–0.98)
238 obs / 269.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.44–1.05)
0≤0.351.4
Missense OE?0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 14 / 20.8Missense obs/exp: 238 / 269.9Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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