MFNG Gene - MFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase
Gene encoding a glycosyltransferase involved in Notch signaling and developmental processes
Gene Information Card
| Symbol | MFNG |
|---|---|
| Full Name | MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 4242 ncbi.nlm.nih.gov/gene/4242 |
| Ensembl ID | ENSG00000100060 |
| UniProt ID | Q00587 |
| OMIM ID | 602202 |
| HGNC ID | 7038 |
| Aliases | MFNG, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
Description
The MFNG gene encodes a glycosyltransferase that adds N-acetylglucosamine to O-fucose residues on Notch receptors, modulating Notch signaling. This gene is involved in cell differentiation, proliferation, and developmental processes. Mutations and altered expression of MFNG have been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dowling-Degos disease | Loss-of-function mutations in MFNG disrupt Notch signaling in keratinocytes, leading to reticulate pigmentation abnormalities. | PMID: 23548203 |
| Breast cancer | MFNG overexpression alters Notch signaling, promoting tumor cell proliferation and invasion. | PMID: 25605248 |
| Colorectal cancer | MFNG downregulation correlates with poor prognosis and altered Notch pathway activity. | PMID: 29187736 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 1.1 | Not detected |
| Lung | 4.5 | Low |
| Kidney | 6.0 | Low |
| Testis | 12.3 | Medium |
| Pancreas | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 8.5 | Medium |
| HeLa | 6.2 | Low |
| MCF7 | 10.1 | Medium |
| A549 | 4.8 | Low |
| HepG2 | 3.0 | Low |
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% | Associated with Dowling-Degos disease |
| c.346G>A (p.Gly116Arg) | Missense | <0.01% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MFNG, such as those causing Dowling-Degos disease, impair Notch signaling and lead to abnormal cell differentiation.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in certain cancers may act as a dominant effect.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MFNG.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Glycosylation of Notch receptors (Reactome: R-HSA-1912422)
Protein Summary
MFNG is a 321-amino acid type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the addition of N-acetylglucosamine to O-fucose residues on Notch receptors, a modification essential for proper Notch receptor activation. The protein contains a catalytic domain and a transmembrane domain, and its activity modulates Notch signaling in various developmental and homeostatic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFNG Knockout HEK293 Cell Line | EDJ-KQ432 | Human | 4242 | Details Get a Quote |
| MFNG Knockout A-549 Cell Line | EDJ-KQ18000 | Human | 4242 | Details Get a Quote |
| MFNG Knockout HCT 116 Cell Line | EDJ-KQ18726 | Human | 4242 | Details Get a Quote |
| MFNG Knockout HeLa Cell Line | EDJ-KQ53867 | Human | 4242 | Details Get a Quote |
