UGT2B10

Chr 4

UDP glucuronosyltransferase family 2 member B10

Also known as: UDPGT2B10

NCBI Gene: 7365 ENSG00000109181 UniProt: P36537 OMIM: 600070

The protein functions as a UDP-glucuronosyltransferase that conjugates potentially toxic xenobiotics and endogenous compounds including estrogens for elimination, and is located in the endoplasmic reticulum membrane. The gene shows minimal constraint against loss-of-function variation, and no clear Mendelian disease associations have been established for UGT2B10 mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.64

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.64LOEUF

pLI 0.000

Z-score -0.71

OE 1.17 (0.85–1.64)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-2.86Z-score

OE missense 1.49 (1.38–1.62)

397 obs / 265.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.17 (0.85–1.64)

0≤0.351.4

Missense OE?1.49 (1.38–1.62)

0≤0.61.4

Synonymous OE?1.30

0≤1.21.6

LoF obs/exp: 24 / 20.5Missense obs/exp: 397 / 265.8Syn Z: -2.31

Background carrier burden — how many people carry a rare variant somewhere in UGT2B10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 48

754 rare PASS variants

Rare truncating (LoF)

1 in 230

96 rare PASS variants

Rare synonymous (reference)

1 in 150

235 rare PASS variants

Rare missense and truncating variants are carried at similar rates in UGT2B10; this gene does not show strong loss-of-function constraint by this measure. 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)	~556k	1 in 60	1 in 230
South Asian	~43k	1 in 72	1 in 610
Remaining (unassigned)	~30k	1 in 45	1 in 620
European (Finnish)	~27k	1 in 150	1 in 500
Admixed American	~22k	1 in 66	1 in 1,000
African / African American	~21k	1 in 56	1 in 260
East Asian	~20k	1 in 50	1 in 330
Ashkenazi Jewish	~13k	1 in 650	≈ 1 in 13,000
Middle Eastern	~2,883	1 in 49	≈ 1 in 960

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): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓