Efemp2 Gene Summary [Mouse]
Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development. Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Efemp2 |
| Official Name | epidermal growth factor-containing fibulin-like extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:1891209] |
| Ensembl ID | ENSMUSG00000024909 |
| Bio databases IDs | |
| Aliases | epidermal growth factor-containing fibulin-like extracellular matrix protein 2 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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