UGT2B4

Chr 4

UDP glucuronosyltransferase family 2 member B4

Also known as: HLUG25, UDPGT2B4, UDPGTH1, UDPGTh-1, UGT2B11

NCBI Gene: 7363 ENSG00000156096 UniProt: P06133 OMIM: 600067

The UGT2B4 protein is a UDP-glucuronosyltransferase that conjugates lipophilic substrates with glucuronic acid to facilitate their excretion, playing an essential role in drug detoxification and metabolism of endogenous compounds including estrogen hormones. Mutations in UGT2B4 have not been established as a cause of human disease based on the available data. The gene shows low constraint against loss-of-function variants (LOEUF 1.22), suggesting tolerance to such mutations.

OMIM ResearchSummary from RefSeq, UniProt

Enables glucuronosyltransferase activity. Involved in estrogen metabolic process and xenobiotic metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.22

Clinical Summary— UGT2B4

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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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.84

OE 0.79 (0.53–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.15Z-score

OE missense 1.19 (1.09–1.31)

331 obs / 277.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.79 (0.53–1.22)

0≤0.351.4

Missense OE?1.19 (1.09–1.31)

0≤0.61.4

Synonymous OE?1.25

0≤1.21.6

LoF obs/exp: 15 / 18.9Missense obs/exp: 331 / 277.0Syn Z: -1.93

This gene — mechanism propensity

0.77top 25%

GOF

0.6149th %ile

LOF

0.2387th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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.