UGT2B17

Chr 4

UDP glucuronosyltransferase family 2 member B17

Also known as: BMND12, UDPGT2B17

NCBI Gene: 7367 ENSG00000197888 UniProt: O75795 OMIM: 601903

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Bone mineral density QTL 12, osteoporosis}MIM #612560

Active trials

—

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

Background carrier burden — how many people carry a rare variant somewhere in UGT2B17?

gnomAD v4 · ~631k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 50

478 rare PASS variants

Rare truncating (LoF)

1 in 1,100

59 rare PASS variants

Rare synonymous (reference)

1 in 230

163 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UGT2B17. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~502k	1 in 61	1 in 1,400
South Asian	~33k	1 in 70	1 in 1,500
Remaining (unassigned)	~26k	1 in 52	1 in 2,500
European (Finnish)	~23k	1 in 300	none seen
Admixed American	~19k	1 in 63	1 in 450
African / African American	~19k	1 in 60	1 in 440
Ashkenazi Jewish	~11k	1 in 250	none seen
East Asian	~9,121	1 in 300	none seen
Middle Eastern	~2,475	1 in 63	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 6 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5, 6, 7 marginal. Genomes: 0 of 6 (exons 2, 3, 4, 5, 6, 7 below).? see exons ↓