UGT2A3
protein-codingUDP glucuronosyltransferase family 2 member A3, the group of UDP glucuronosyltransferases
Gene summary
Enables glucuronosyltransferase activity. Involved in xenobiotic metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to UGT2A3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024743.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 82 | 4 | 86 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 83 | 4 | 0 | 87 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_079019.3 | 6 | MANE Select | |
| Ensembl | ENSP00000251566.4 | 6 | MANE Select | |
| Ensembl | ENSP00000424092.1 | 3 | Standard | |
| Ensembl | ENSP00000522473.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Retinol metabolism - Homo sapiens (human)
- Steroid hormone biosynthesis - Homo sapiens (human)
- Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
- Drug metabolism - other enzymes - Homo sapiens (human)
- Drug metabolism - cytochrome P450 - Homo sapiens (human)
Biological Process
- cellular glucuronidation
Molecular Function
- UDP-glycosyltransferase activity
- glucuronosyltransferase activity
Cellular Component
- integral component of membrane
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000251566
- Coding exons
- 6
- Length
- 23329
- Individuals with no LoFs
- 125623
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 103
- Defined
- 125726
- p
- 0.000410
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.75 | 354 | 272 | 1.30 | 0.0000128 | 3448 |
| Missense (PolyPhen) | 128 | 100.05 | 1.2793 | 1379 | ||
| Synonymous | -2.80 | 131 | 96.1 | 1.36 | 0.00000459 | 992 |
| Loss of Function | -0.307 | 22 | 20.5 | 1.07 | 0.00000115 | 252 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00081 | 0.00080 | rare |
| Latino/Admixed American | 0.00038 | 0.00038 | rare |
| Ashkenazi Jewish | 0.00020 | 0.00020 | rare |
| East Asian | 0.00039 | 0.00038 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00044 | 0.00042 | rare |
| South Asian | 0.00060 | 0.00059 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.139
Intolerance Scores
- LoFtool
- 0.828
- RVIS EVS
- 0.38
- RVIS percentile EVS
- 75.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0437
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |