GXYLT2
Glucoside Xylosyltransferase 2
Gene Information Card
| Symbol | GXYLT2 |
|---|---|
| Full Name | Glucoside Xylosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 727936 ncbi.nlm.nih.gov/gene/727936 |
| Ensembl ID | ENSG00000186868 |
| UniProt ID | Q5VZK9 |
| OMIM ID | 612346 |
| HGNC ID | 26862 |
| Aliases | XylT2, GXYLT2, xylT-II |
Description
GXYLT2 encodes glucoside xylosyltransferase 2, an enzyme that catalyzes the transfer of xylose from UDP-xylose to a glucosyl residue on Notch EGF repeats, initiating O-glucose glycan elongation. This modification is critical for proper Notch receptor trafficking and signaling. The gene is located on chromosome 3p21.31 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Notch-related developmental disorders | Altered O-glucosylation of Notch EGF repeats may impair Notch signaling | Limited; inferred from functional studies |
| Cancer (e.g., colorectal, breast) | Dysregulated GXYLT2 expression may affect Notch pathway activity in tumorigenesis | Observational expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Lung | 9.7 | Low |
| Pancreas | 4.8 | Low |
| Spleen | 7.0 | Low |
| Testis | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney |
| HeLa | 11.2 | Cervical carcinoma |
| HepG2 | 8.5 | Hepatocellular carcinoma |
| K562 | 6.0 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional impact |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • UDP-xylosyltransferase activity (GO:0035252) | • protein glycosylation (GO:0006486) |
| • Golgi apparatus (GO:0005794) | • Notch signaling pathway (GO:0007219) |
Pathways
• Notch O-glycosylation (R-HSA-1912408)
• O-linked glycosylation of Notch (R-HSA-1987651)
Protein Summary
Glucoside xylosyltransferase 2 (GXYLT2) is a type II transmembrane protein localized to the Golgi apparatus. It transfers xylose from UDP-xylose to O-glucose on Notch EGF repeats, a key step in the elongation of O-glucose glycans. This modification modulates Notch receptor activity and is essential for proper cell-cell communication during development and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GXYLT2 Knockout HEK293 Cell Line | EDJ-KQ13701 | Human | 727936 | Details Get a Quote |
| GXYLT2 Knockout A-549 Cell Line | EDJ-KQ43421 | Human | 727936 | Details Get a Quote |
| GXYLT2 Knockout HCT 116 Cell Line | EDJ-KQ43422 | Human | 727936 | Details Get a Quote |
| GXYLT2 Knockout HeLa Cell Line | EDJ-KQ43423 | Human | 727936 | Details Get a Quote |
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