POGLUT2
Protein O-Glucosyltransferase 2
Gene Information Card
| Symbol | POGLUT2 |
|---|---|
| Full Name | Protein O-Glucosyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6UWU4 |
| OMIM ID | 618249 |
| HGNC ID | HGNC:37227 |
| Aliases | C13orf31, FLJ39632, KDELC2 |
Description
POGLUT2 encodes protein O-glucosyltransferase 2, an enzyme that catalyzes the addition of glucose to serine residues in EGF-like domains of proteins, including Notch receptors. This post-translational modification is critical for proper Notch signaling and cell fate determination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dowling-Degos disease 4 | Loss-of-function mutations in POGLUT2 impair Notch signaling, leading to reticulate pigmentation and skin abnormalities. | OMIM #618525; PMID: 31006510 |
| Notch-related developmental disorders | Disrupted O-glucosylation of Notch receptors alters ligand binding and signaling. | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 2.1 | Low |
| Brain | 1.5 | Low |
| Heart | 0.8 | Not detected |
| Liver | 0.6 | Not detected |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.4 | Moderate expression |
| HaCaT (keratinocytes) | 5.2 | High expression |
| SH-SY5Y | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Impaired enzymatic activity; associated with Dowling-Degos disease |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations reduce or abolish glucosyltransferase activity, disrupting Notch signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • glucosyltransferase activity (GO:0046527) | • endoplasmic reticulum lumen (GO:0005788) |
| • Notch signaling pathway (GO:0007219) | • protein O-linked glycosylation (GO:0006493) |
Pathways
• Notch signaling (Reactome R-HSA-157118)
• O-glycosylation of proteins (Reactome R-HSA-5173105)
Protein Summary
POGLUT2 is a 419-amino acid protein localized to the endoplasmic reticulum. It belongs to the KDELC family and contains a DXD motif essential for catalytic activity. The enzyme specifically adds glucose to O-fucose residues on EGF repeats of Notch receptors, modulating receptor trafficking and signaling strength.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POGLUT2 Knockout HEK293 Cell Line | EDJ-KQ14829 | Human | 79070 | Details Get a Quote |
| POGLUT2 Knockout A-549 Cell Line | EDJ-KQ45268 | Human | 79070 | Details Get a Quote |
| POGLUT2 Knockout HCT 116 Cell Line | EDJ-KQ45269 | Human | 79070 | Details Get a Quote |
| POGLUT2 Knockout HeLa Cell Line | EDJ-KQ45270 | Human | 79070 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
