FBN2 Gene Summary [Human]
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FBN2 |
| Official Name | fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604] |
| Ensembl ID | ENSG00000138829 |
| Bio databases IDs | |
| Aliases | fibrillin 2, fibrillin 5 |
| Synonyms | BC063774, CCA, DA9, EOMD, Fib-2, fibrillin 2, LOC102553271, mKIAA4226, RGD1563221, sne, sy |
| 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 FBN2 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
- calcium ion binding
- TB domain
- hormone
- EGF domain
- protein binding
- hybrid domain
- Fibrillin 1 unique N-terminal domain
- EGF-like domain
- 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
- coronary artery disease
- cancer
- congenital contractural arachnodactyly
- hypertension
- pancreatic cancer
- familial thoracic aortic aneurysms and dissections
- refractive error
- polysyndactyly
- obesity
- cardiovascular disorder
role in cell
- growth
- differentiation
- invasion by
- production 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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sequestering of TGFbeta in extracellular matrix
- embryonic limb morphogenesis
- signal transduction
- embryonic eye morphogenesis
- camera-type eye development
- anatomical structure morphogenesis
- positive regulation of osteoblast differentiation
- bone trabecula formation
- positive regulation of bone mineralization
Cellular Component
Where in the cell the gene product is active
- microfibril
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- extracellular matrix constituent conferring elasticity
- hormone activity
- extracellular matrix structural constituent