RFNG (RFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase)
A key regulator of Notch signaling through O-fucosylation and Fringe activity.
Gene Information Card
| Symbol | RFNG |
|---|---|
| Full Name | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 5986 ncbi.nlm.nih.gov/gene/5986 |
| Ensembl ID | ENSG00000108349 |
| UniProt ID | Q9Y644 |
| OMIM ID | 602576 |
| HGNC ID | 9979 |
| Aliases | FNG, fringe homolog |
Description
The RFNG gene encodes a member of the fringe family of glycosyltransferases, which modulate Notch signaling by adding N-acetylglucosamine to O-fucose residues on epidermal growth factor-like repeats of Notch receptors. This modification alters the affinity of Notch for its ligands, thereby influencing cell fate decisions during development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebral cavernous malformations | Altered Notch signaling due to RFNG mutations may contribute to vascular malformations. | ClinVar, OMIM |
| Cancer (various) | Dysregulated RFNG expression affects Notch pathway activity, promoting tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 8.5 | Low |
| Liver | 3.1 | Low |
| Lung | 12.4 | Medium |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.3 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 5.2 | Low expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.200C>T | Nonsense | <0.01% | Premature truncation |
| c.350G>A | Missense | 0.02% | Altered enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish glycosyltransferase activity, impairing Notch modulation.
Gain of Function (GOF)
Not well documented; rare variants may enhance activity.
Dominant Negative (DN)
Not reported for RFNG.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Glycosylation of Notch receptors
Protein Summary
RFNG is a 321-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the addition of N-acetylglucosamine to O-fucose residues on Notch receptors, a modification that modulates Notch-ligand interactions. This enzyme is critical for proper Notch signaling during embryonic development and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFNG Knockout HEK293 Cell Line | EDJ-KQ50568 | Human | 5986 | Details Get a Quote |
| RFNG Knockout HeLa Cell Line | EDJ-KQ54313 | Human | 5986 | Details Get a Quote |
| RFNG Knockout A-549 Cell Line | EDJ-KQ62807 | Human | 5986 | Details Get a Quote |
| RFNG Knockout HCT 116 Cell Line | EDJ-KQ71272 | Human | 5986 | Details Get a Quote |
