UGT2B28
protein-codingUDP glucuronosyltransferase family 2 member B28, the group of UDP glucuronosyltransferases
Gene summary
This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~14.6 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 UGT2B28 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_053039.2. 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 | 4 | 1 | 5 | |||
| missense | 89 | 13 | 2 | 104 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 3 | 3 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 92 | 17 | 3 | 112 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_444267.1 | 6 | MANE Select | |
| Ensembl | ENSP00000334276.5 | 6 | MANE Select | |
| RefSeq | NP_001193933.1 | 4 | Standard | |
| Ensembl | ENSP00000427399.1 | 4 | 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
- steroid metabolic process
- xenobiotic glucuronidation
Molecular Function
- UDP-glycosyltransferase activity
- glucuronosyltransferase activity
Cellular Component
- nuclear outer membrane
- endoplasmic reticulum
- endoplasmic reticulum membrane
- integral component of membrane
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000335568
- Coding exons
- 6
- Length
- 14552
- Individuals with no LoFs
- 122995
- Homozygous LoFs
- 17
- Heterozygous LoFs
- 107
- Defined
- 123119
- p
- 0.000504
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -2.18 | 373 | 272 | 1.37 | 0.0000125 | 3481 |
| Missense (PolyPhen) | 116 | 88.112 | 1.3165 | 1199 | ||
| Synonymous | -2.55 | 125 | 93.6 | 1.34 | 0.00000449 | 967 |
| Loss of Function | -0.877 | 24 | 19.8 | 1.21 | 0.00000102 | 228 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0018 | 0.0012 | notable |
| Latino/Admixed American | 0.00041 | 0.00039 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00073 | 0.00061 | rare |
| Finnish | 0.00015 | 0.00014 | rare |
| European (Non-Finnish) | 0.00063 | 0.00054 | rare |
| South Asian | 0.00069 | 0.00055 | rare |
| Other | 0.00035 | 0.00017 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta- diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active. {ECO:0000269|PubMed:11300766}.;
Intolerance Scores
- LoFtool
- 0.884
- RVIS EVS
- 1.53
- RVIS percentile EVS
- 95.56
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0676
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |