UGGT2: UDP-Glucose Glycoprotein Glucosyltransferase 2
A key regulator of glycoprotein quality control in the endoplasmic reticulum
Gene Information Card
| Symbol | UGGT2 |
|---|---|
| Full Name | UDP-Glucose Glycoprotein Glucosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 55757 ncbi.nlm.nih.gov/gene/55757 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | Q9NYU2 |
| OMIM ID | 605896 |
| HGNC ID | 15677 |
| Aliases | HUGT2, UGGT2_HUMAN, UGGT-2 |
Description
UGGT2 encodes UDP-glucose glycoprotein glucosyltransferase 2, an endoplasmic reticulum (ER) resident enzyme that acts as a folding sensor in the glycoprotein quality control pathway. It reglucosylates misfolded glycoproteins to retain them in the calnexin/calreticulin cycle, facilitating proper folding. UGGT2 is paralogous to UGGT1 and shares similar enzymatic activity but may have distinct substrate specificity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered UGGT2 expression may disrupt glycoprotein folding, contributing to ER stress and tumor progression. | COSMIC; literature |
| Congenital disorders of glycosylation (CDG) | Potential role due to involvement in N-glycan processing; direct evidence limited. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Testis | 5.1 | Low |
| Brain | 3.8 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma cell line |
| HEK293 | 5.4 | Embryonic kidney cells |
| K562 | 3.2 | Chronic myelogenous leukemia |
| A549 | 2.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.2567A>G (p.Asn856Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair glucosyltransferase activity, reducing glycoprotein folding efficiency.
Gain of Function (GOF)
Not documented.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • UDP-glucose:glycoprotein glucosyltransferase activity | • calnexin binding |
| • endoplasmic reticulum lumen | • protein folding in endoplasmic reticulum |
| • glycoprotein metabolic process |
Pathways
• Calnexin/calreticulin cycle
• N-glycan biosynthesis
• ER quality control
Protein Summary
UGGT2 is a 160 kDa soluble ER luminal protein that recognizes misfolded glycoproteins and adds a glucose residue to the N-glycan, allowing re-entry into the calnexin cycle. It contains a catalytic domain and a thioredoxin-like domain. Unlike UGGT1, UGGT2 may have broader substrate specificity and is less studied.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGGT2 Knockout HEK293 Cell Line | EDJ-KQ16023 | Human | 55757 | Details Get a Quote |
| UGGT2 Knockout A-549 Cell Line | EDJ-KQ45900 | Human | 55757 | Details Get a Quote |
| UGGT2 Knockout HCT 116 Cell Line | EDJ-KQ47121 | Human | 55757 | Details Get a Quote |
| UGGT2 Knockout HeLa Cell Line | EDJ-KQ47122 | Human | 55757 | Details Get a Quote |
