EFEMP2 Gene Summary [Human]
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | EFEMP2 |
| Official Name | EGF containing fibulin extracellular matrix protein 2 [Source:HGNC Symbol;Acc:HGNC:3219] |
| Ensembl ID | ENSG00000172638 |
| Bio databases IDs | |
| Aliases | EGF containing fibulin extracellular matrix protein 2, fibulin 4 |
| Synonyms | 0610011K11Rik, ARCL1B, EGF containing fibulin extracellular matrix protein 2, epidermal growth factor-containing fibulin-like extracellular matrix protein 2, FBLN4, Fibulin 4, LOC100365465, MBP1, UPH1 |
| 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 EFEMP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- extracellular matrix structural constituent
- protein homodimerization
- EGF domain
- protein binding
- heparin binding
- Coagulation Factor Xa inhibitory site
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- autosomal recessive cutis laxa type 1B
- acute coronary syndrome
- cutis laxa
- synovitis
- epithelial basal cell carcinoma
- epithelial cancer
- bleeding
- polycystic kidney disease
- diffuse systemic sclerosis
role in cell
- transformation
- migration
- apoptosis
- invasion by
- growth
- colony formation by
- differentiation
- processing in
- cell viability
- endoplasmic reticulum stress response
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
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFEMP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- elastic fiber assembly
- aorta development
- vascular smooth muscle cell development
- aorta smooth muscle tissue morphogenesis
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular vesicular exosome
- microfibril
- elastic fiber
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- calcium ion binding
- heparin binding
- extracellular matrix structural constituent