MFAP4: Microfibril-Associated Protein 4 – Gene, Function, and Clinical Relevance
Comprehensive biomedical overview of MFAP4, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MFAP4 |
|---|---|
| Full Name | Microfibril Associated Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 4239 ncbi.nlm.nih.gov/gene/4239 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P55083 |
| OMIM ID | 600199 |
| HGNC ID | 7033 |
| Aliases | MAGP-2, MP25, microfibril-associated glycoprotein 2 |
Description
MFAP4 (microfibril-associated protein 4) encodes a 25 kDa glycoprotein that is a component of extracellular matrix microfibrils. It is involved in elastic fiber assembly, cell adhesion, and integrin-mediated signaling. MFAP4 is highly expressed in the lung, heart, and blood vessels, and its dysregulation is associated with fibrotic diseases, cardiovascular disorders, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary fibrosis | MFAP4 promotes fibroblast activation and extracellular matrix deposition; elevated serum levels correlate with disease severity. | PMID: 25657027; ClinVar |
| Liver cirrhosis | MFAP4 is upregulated in hepatic stellate cells and serum levels reflect fibrosis stage in chronic liver disease. | PMID: 25795507; NCBI Gene |
| Cardiovascular disease | MFAP4 modulates vascular remodeling and is associated with hypertension and atherosclerosis. | PMID: 23348746; OMIM |
| Systemic sclerosis | Increased MFAP4 expression in skin and lung fibroblasts contributes to fibrosis. | PMID: 26002980; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 48.2 | High |
| Heart | 32.1 | Medium |
| Artery | 28.7 | Medium |
| Liver | 15.4 | Low |
| Kidney | 12.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 35.6 | High expression |
| HepG2 (hepatocellular carcinoma) | 18.2 | Moderate expression |
| HUVEC (endothelial) | 42.1 | High expression |
| MRC-5 (lung fibroblast) | 55.3 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331G>A (p.Gly111Arg) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Predicted damaging; associated with altered protein stability |
| c.94_96del (p.Glu32del) | In-frame deletion | <0.01% | May affect microfibril binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MFAP4; experimental knockdown reduces cell adhesion and migration.
Gain of Function (GOF)
No confirmed gain-of-function mutations; overexpression in fibroblasts increases collagen deposition.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
• Integrin signaling pathway (Reactome: R-HSA-1474244)
Protein Summary
MFAP4 is a 255-amino-acid secreted glycoprotein containing an RGD integrin-binding motif and a C-terminal fibrinogen-related domain. It localizes to microfibrils in the extracellular matrix, where it mediates cell-matrix interactions and elastic fiber assembly. The protein is implicated in tissue fibrosis, vascular remodeling, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFAP4 Knockout HEK293 Cell Line | EDJ-KQ234 | Human | 4239 | Details Get a Quote |
| MFAP4 Knockout HeLa Cell Line | EDJ-KQ53865 | Human | 4239 | Details Get a Quote |
| MFAP4 Knockout A-549 Cell Line | EDJ-KQ62354 | Human | 4239 | Details Get a Quote |
| MFAP4 Knockout HCT 116 Cell Line | EDJ-KQ70824 | Human | 4239 | Details Get a Quote |
