MON2
MON2 homolog, regulator of endosome-to-Golgi trafficking
Gene Information Card
| Symbol | MON2 |
|---|---|
| Full Name | MON2 homolog, regulator of endosome-to-Golgi trafficking |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 23041 ncbi.nlm.nih.gov/gene/23041 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q86XK2 |
| OMIM ID | 616579 |
| HGNC ID | 25482 |
| Aliases | KIAA1199, MON2 homolog (S. cerevisiae) |
Description
MON2 encodes a peripheral membrane protein that functions as a guanine nucleotide exchange factor (GEF) for the small GTPase ARL1, regulating endosome-to-Golgi trafficking and vesicle-mediated transport. The protein is involved in maintaining Golgi structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | MON2 overexpression may promote tumor growth via altered vesicle trafficking | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Moderate expression |
| HEK293 | 8.9 | Moderate expression |
| A549 | 7.2 | Low expression |
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; likely benign |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations predicted to cause premature truncation and loss of GEF activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MON2.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Golgi organization |
| • endosome to Golgi transport | • vesicle-mediated transport |
Pathways
• Endosome-to-Golgi trafficking
• ARF family signaling
Protein Summary
MON2 is a 1836-amino acid protein with a molecular weight of approximately 206 kDa. It contains a Sec7-like domain that mediates GEF activity toward ARL1. The protein localizes to the Golgi apparatus and endosomal membranes, facilitating retrograde transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MON2 Knockout HEK293 Cell Line | EDJ-KQ7788 | Human | 23041 | Details Get a Quote |
| MON2 Knockout A-549 Cell Line | EDJ-KQ33276 | Human | 23041 | Details Get a Quote |
| MON2 Knockout HCT 116 Cell Line | EDJ-KQ33277 | Human | 23041 | Details Get a Quote |
| MON2 Knockout HeLa Cell Line | EDJ-KQ33278 | Human | 23041 | Details Get a Quote |
