MFAP5 Gene - Microfibril Associated Protein 5
A key component of microfibrils involved in connective tissue structure and signaling, with implications in thoracic aortic aneurysms and cancer.
Gene Information Card
| Symbol | MFAP5 |
|---|---|
| Full Name | Microfibril Associated Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 8076 ncbi.nlm.nih.gov/gene/8076 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q13361 |
| OMIM ID | 601103 |
| HGNC ID | 7033 |
| Aliases | MAGP2, MP78, AAT9 |
Description
MFAP5 (Microfibril Associated Protein 5) encodes a 25 kDa glycoprotein, also known as MAGP2, that is a component of microfibrils in the extracellular matrix. It binds to fibrillin and other matrix proteins, contributing to elastic fiber assembly and structural integrity of connective tissues. MFAP5 is also involved in cell adhesion and signaling via integrins, and its dysregulation is linked to thoracic aortic aneurysms and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thoracic Aortic Aneurysm | Loss-of-function mutations in MFAP5 disrupt microfibril assembly, weakening the aortic wall. | OMIM #616166; Guo et al., 2016, Am J Hum Genet |
| Marfan Syndrome (related) | MFAP5 variants may modify fibrillin-1 function, contributing to aortic root dilation. | ClinVar; limited evidence |
| Ovarian Cancer | MFAP5 overexpression promotes tumor angiogenesis and metastasis via integrin signaling. | Leung et al., 2014, Cancer Res |
| Pancreatic Cancer | MFAP5 upregulation correlates with poor prognosis and stromal remodeling. | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Aorta | 18.3 | High |
| Lung | 8.2 | Medium |
| Ovary | 6.7 | Low |
| Pancreas | 4.1 | Low |
| Skeletal Muscle | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells (HASMC) | 15.0 | Primary cells |
| Ovarian cancer cell line (OVCAR3) | 22.5 | Overexpressed |
| Pancreatic cancer cell line (PANC1) | 18.0 | Overexpressed |
| Fibroblasts (HDF) | 10.2 | Normal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | <0.01% | Loss of function; associated with thoracic aortic aneurysm |
| c.527G>A (p.Arg176Gln) | Missense | <0.01% | Uncertain significance; potential dominant negative effect |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; reported in familial aortic aneurysm |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations (e.g., p.Arg148*, p.Met1?) lead to truncated or absent protein, impairing microfibril assembly.
Gain of Function (GOF)
Not reported for MFAP5; overexpression in cancer is likely transcriptional, not mutational.
Dominant Negative (DN)
Missense variants (e.g., p.Arg176Gln) may interfere with fibrillin binding, acting in a dominant negative manner.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • proteinaceous extracellular matrix (GO:0005578) |
| • extracellular matrix constituent conferring elasticity (GO:0030023) | • cell adhesion (GO:0007155) |
| • protein binding (GO:0005515) |
Pathways
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
• Microfibril assembly (Reactome R-HSA-2168880)
Protein Summary
MFAP5 (MAGP2) is a 173-amino acid extracellular matrix glycoprotein that localizes to microfibrils. It contains an N-terminal signal peptide, a central domain rich in proline and glutamine, and a C-terminal domain with a RGD motif that mediates integrin binding. The protein interacts with fibrillin-1 and -2, elastin, and other matrix components, playing a critical role in elastic fiber formation and tissue homeostasis. In cancer, MFAP5 promotes angiogenesis and metastasis through integrin αvβ3 signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFAP5 Knockout HEK293 Cell Line | EDJ-KQ50737 | Human | 8076 | Details Get a Quote |
| MFAP5 Knockout HeLa Cell Line | EDJ-KQ54819 | Human | 8076 | Details Get a Quote |
| MFAP5 Knockout A-549 Cell Line | EDJ-KQ63310 | Human | 8076 | Details Get a Quote |
| MFAP5 Knockout HCT 116 Cell Line | EDJ-KQ71780 | Human | 8076 | Details Get a Quote |
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