MFAP2: Microfibril-Associated Protein 2 – Structure, Function, and Clinical Relevance
Comprehensive genomic and proteomic overview of MFAP2, a key component of microfibrils in connective tissue.
Gene Information Card
| Symbol | MFAP2 |
|---|---|
| Full Name | Microfibril-Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 4237 ncbi.nlm.nih.gov/gene/4237 |
| Ensembl ID | ENSG00000117122 |
| UniProt ID | P55001 |
| OMIM ID | 156790 |
| HGNC ID | 7033 |
| Aliases | MAGP-1, MAGP1 |
Description
MFAP2 (microfibril-associated protein 2) encodes a major component of microfibrils, which are structural elements of the extracellular matrix. The protein, also known as MAGP-1, binds to fibrillin and is involved in elastic fiber assembly and maintenance. It plays a role in connective tissue integrity and has been implicated in various disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Geleophysic dysplasia 2 | Defective microfibril assembly due to MFAP2 mutations impairs TGF-β signaling and connective tissue development. | OMIM #614185; PMID: 22499340 |
| Acromicric dysplasia | Similar mechanism to geleophysic dysplasia; mutations disrupt microfibril structure and growth factor regulation. | OMIM #102370; PMID: 22499340 |
| Weill-Marchesani syndrome 2 | MFAP2 mutations lead to abnormal microfibril function, affecting lens, heart, and skeletal development. | OMIM #608328; PMID: 22499340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.2 | Medium |
| Skin | 20.1 | High |
| Artery | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts | 22.4 | High expression in dermal fibroblasts |
| Smooth muscle cells | 16.8 | Medium expression |
| Endothelial cells | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.262C>T (p.Arg88Cys) | Missense | Rare | Alters protein folding and microfibril binding |
| c.403G>A (p.Gly135Ser) | Missense | Rare | Disrupts fibrillin interaction |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MFAP2 function, leading to defective microfibril assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by incorporating into microfibrils and disrupting structure.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • protein binding |
| • extracellular region | • microfibril |
| • elastic fiber assembly |
Pathways
• Elastic fibre formation (Reactome: R-HSA-1566948)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
MFAP2 (MAGP-1) is a 183-amino-acid extracellular matrix protein that localizes to microfibrils. It contains an N-terminal signal peptide, a central region rich in proline and glutamine, and a C-terminal domain that mediates binding to fibrillin-1 and other matrix components. The protein is essential for elastic fiber integrity and is highly expressed in tissues rich in connective tissue, such as skin, arteries, and lung.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFAP2 Knockout HEK293 Cell Line | EDJ-KQ5204 | Human | 4237 | Details Get a Quote |
| MFAP2 Knockout HCT 116 Cell Line | EDJ-KQ28201 | Human | 4237 | Details Get a Quote |
| MFAP2 Knockout HeLa Cell Line | EDJ-KQ28202 | Human | 4237 | Details Get a Quote |
| MFAP2 Knockout A-549 Cell Line | EDJ-KQ62353 | Human | 4237 | Details Get a Quote |
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