UGT2B7

Chr 4

UDP glucuronosyltransferase family 2 member B7

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

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]

GeneReviewsResearchGenerating clinical summary…
1
Active trials
62
Pubs (1 yr)
P/LP submissions
P/LP missense
1.44
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — UGT2B7
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.000
Z-score 0.04
OE 0.99 (0.701.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.33Z-score
OE missense 1.22 (1.121.34)
338 obs / 275.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.701.44)
00.351.4
Missense OE?1.22 (1.121.34)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 20 / 20.2Missense obs/exp: 338 / 275.9Syn Z: -0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UGT2B7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.