MARCHF2 Gene - Membrane Associated Ring-CH-Type Finger 2
E3 ubiquitin-protein ligase MARCHF2: Function, expression, and disease relevance
Gene Information Card
| Symbol | MARCHF2 |
|---|---|
| Full Name | Membrane Associated Ring-CH-Type Finger 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 51257 ncbi.nlm.nih.gov/gene/51257 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9P0N8 |
| OMIM ID | 613332 |
| HGNC ID | 6833 |
| Aliases | MARCH-II, RNF172 |
Description
MARCHF2 encodes a member of the membrane-associated RING-CH (MARCH) family of E3 ubiquitin ligases. The protein localizes to endosomal membranes and the plasma membrane, where it ubiquitinates target proteins, including MHC class II molecules, CD86, and transferrin receptor, thereby regulating their trafficking and degradation. MARCHF2 plays roles in immune modulation, endosomal sorting, and protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MARCHF2 overexpression may promote tumor progression through ubiquitination of tumor suppressors; limited evidence from expression studies. | Low; expression data from COSMIC and literature. |
| Infectious diseases (viral) | MARCHF2 downregulates MHC class II and CD86, potentially impairing antigen presentation and facilitating immune evasion. | Indirect; functional studies in cell lines. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.5 | Medium |
| Lung | 7.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.0 | Medium expression |
| K562 | 9.8 | Medium expression |
| MCF7 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | <0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging |
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)
| • E3 ubiquitin-protein ligase activity | • ubiquitin protein ligase activity |
| • zinc ion binding | • protein ubiquitination |
| • endosomal transport | • immune response |
| • negative regulation of antigen presentation |
Pathways
• Endosomal sorting complex required for transport (ESCRT)
• Ubiquitin-proteasome pathway
• Antigen processing and presentation
Protein Summary
MARCHF2 is a 246-amino acid E3 ubiquitin ligase with a RING-CH domain, two transmembrane domains, and a C-terminal PDZ-binding motif. It ubiquitinates lysine residues on substrate proteins, targeting them for lysosomal degradation. The protein is involved in downregulating immune receptors and modulating endocytic trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF2 Knockout HEK293 Cell Line | EDJ-KQ11000 | Human | 51257 | Details Get a Quote |
| MARCHF2 Knockout A-549 Cell Line | EDJ-KQ38862 | Human | 51257 | Details Get a Quote |
| MARCHF2 Knockout HCT 116 Cell Line | EDJ-KQ38863 | Human | 51257 | Details Get a Quote |
| MARCHF2 Knockout HeLa Cell Line | EDJ-KQ38864 | Human | 51257 | Details Get a Quote |
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