UGT2B7

Chr 4

UDP glucuronosyltransferase family 2 member B7

Also known as: UDPGT 2B7, UDPGT 2B9, UDPGT2B7, UDPGTH2, UDPGTh-2, UGT2B9

NCBI Gene: 7364 ENSG00000171234 UniProt: P16662 OMIM: 600068

This gene encodes UDP-glucuronosyltransferase 2B7, an enzyme that conjugates glucuronic acid to steroid hormones, bile acids, retinoic acid, and various drugs to facilitate their elimination from the body. The gene is not constrained against loss-of-function variants and mutations in UGT2B7 have not been established as a cause of Mendelian disease. A GeneReviews entry exists for this gene, suggesting potential clinical relevance that may involve pharmacogenetic considerations rather than classic genetic disease.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.44

Clinical Summary— UGT2B7

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.44LOEUF

pLI 0.000

Z-score 0.04

OE 0.99 (0.70–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.33Z-score

OE missense 1.22 (1.12–1.34)

338 obs / 275.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.99 (0.70–1.44)

0≤0.351.4

Missense OE?1.22 (1.12–1.34)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 20 / 20.2Missense obs/exp: 338 / 275.9Syn Z: -0.59

This gene — mechanism propensity

0.81top 10%

GOF

0.72top 25%

LOF

0.1994th %ile

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.

DNprediction above median

GOFprediction above median

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.