POGLUT3
protein-codingprotein O-glucosyltransferase 3, the group of Glycosyltransferase family 90
Gene summary
Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via glucose. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Jun 2026]
- KDELC2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~26.3 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 POGLUT3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_153705.5. 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 | 1 | 1 | ||||
| missense | 86 | 2 | 88 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 89 | 2 | 0 | 91 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_714916.3 | 8 | MANE Select | |
| Ensembl | ENSP00000315386.5 | 8 | MANE Select | |
| RefSeq | NP_001350431.1 | 6 | Standard | |
| RefSeq | NP_001350432.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- miR-targeted genes in epithelium - TarBase
- miR-targeted genes in lymphocytes - TarBase
- miR-targeted genes in muscle cell - TarBase
- miR-targeted genes in squamous cell - TarBase
Biological Process
- biological_process
- protein O-linked glycosylation via serine
Molecular Function
- molecular_function
- UDP-glucosyltransferase activity
- UDP-xylosyltransferase activity
- glucosyltransferase activity
Cellular Component
- cellular_component
- endoplasmic reticulum lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000323468
- Coding exons
- 8
- Length
- 26328
- Individuals with no LoFs
- 124431
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 362
- Defined
- 124795
- p
- 0.00146
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.490 | 230 | 252 | 0.913 | 0.0000124 | 3273 |
| Missense (PolyPhen) | 111 | 120.19 | 0.92352 | 1510 | ||
| Synonymous | 0.248 | 93 | 96.1 | 0.968 | 0.00000500 | 978 |
| Loss of Function | 0.934 | 18 | 22.8 | 0.789 | 0.00000111 | 298 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.011 | 0.011 | notable |
| Latino/Admixed American | 0.0021 | 0.0020 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00029 | 0.00028 | rare |
| Finnish | 0.00051 | 0.00051 | rare |
| European (Non-Finnish) | 0.00091 | 0.00089 | rare |
| South Asian | 0.00014 | 0.00013 | rare |
| Other | 0.0019 | 0.0018 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.668
- RVIS EVS
- 0.64
- RVIS percentile EVS
- 83.9
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.469
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |