MFAP4 Gene Summary [Human]
This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | MFAP4 |
| Official Name | microfibril associated protein 4 [Source:HGNC Symbol;Acc:HGNC:7035] |
| Ensembl ID | ENSG00000166482 |
| Bio databases IDs | |
| Aliases | microfibril associated protein 4, microfibril-associated glycoprotein 4 |
| Synonyms | 1110007F23RIK, LOC100911714, LOC102553715, Magp-36, microfibril associated protein 4, microfibrillar-associated protein 4 |
| 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 MFAP4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- FReD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- non-small cell lung cancer
- endometrial cancer
- uterine serous papillary cancer
- androgenic alopecia
- bladder cancer
- Marfan syndrome
- small cell lung cancer
role in cell
- expression in
- organization
- organization in
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
- microfibrils
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFAP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to UV-B
- elastic fiber assembly
- UV protection
- cell adhesion
- regulation of collagen metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- microfibril
- elastic fiber
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- extracellular matrix structural constituent