MFAP2 Gene Summary [Human]
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | MFAP2 |
| Official Name | microfibril associated protein 2 [Source:HGNC Symbol;Acc:HGNC:7033] |
| Ensembl ID | ENSG00000117122 |
| Bio databases IDs | |
| Aliases | microfibril associated protein 2, microfibril-associated glycoprotein-1 |
| Synonyms | MAGP, MAGP-1, microfibril associated protein 2, microfibrillar-associated protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MFAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- matrix binding domain
- binding protein
- protein binding
- fibronectin binding
- Microfibril-associated glycoprotein (MAGP)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- thrombocytopenia
- chronic obstructive pulmonary disease
- abdominal aortic aneurysm
- uterine leiomyoma
- leiomyomatosis
- epithelial cancer
- idiopathic pulmonary fibrosis
- gastroesophageal reflux
- adenoid cystic carcinoma
- hemorrhagic disease
role in cell
- proliferation
- expression in
- phosphorylation in
- differentiation
- formation
- quantity
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- microfibrils
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFAP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic eye morphogenesis
- platelet formation
- post-embryonic eye morphogenesis
Cellular Component
Where in the cell the gene product is active
- microfibril
- extracellular region
Molecular Function
What the gene product does at the molecular level
- fibrinogen binding
- protein binding
- fibronectin binding
- extracellular matrix structural constituent