UGT2A1

Chr 4

UDP glucuronosyltransferase family 2 member A1 complex locus

Also known as: UDPGT2A1

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.53
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.000
Z-score -0.40
OE 1.09 (0.791.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.40Z-score
OE missense 1.24 (1.131.35)
340 obs / 274.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.791.53)
00.351.4
Missense OE?1.24 (1.131.35)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 24 / 22.0Missense obs/exp: 340 / 274.7Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UGT2A1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →