TIMP3 Gene Summary
This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TIMP3 |
| Official Name | TIMP metallopeptidase inhibitor 3 [Source:HGNC Symbol;Acc:HGNC:11822] |
| Ensembl ID | ENSG00000100234 |
| Bio databases IDs | |
| Aliases | TIMP metallopeptidase inhibitor 3 |
| Synonyms | HSMRK222,K222,K222TA2,SFD,TIMP metallopeptidase inhibitor 3,tissue inhibitor of metalloproteinase 3 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NTR_like
- zinc ion binding
- protein binding
- metalloendopeptidase inhibitor
- Tissue inhibitor of metalloproteinase
Pathways
Biological processes and signaling networks where the TIMP3 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- squamous cell cancer of the oral cavity
- asthma
- prostate cancer
- breast cancer
- colon cancer
- lung adenocarcinoma
- pancreatic epithelial cancer
- heart failure
role in cell
- growth
- quantity
- morphology
- cell death
- expression in
- degradation in
- phosphorylation in
- cellular infiltration by
- proliferation
- apoptosis
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
- secretory granule lumen
- cell surface
- basal compartment
- extracellular matrix
- perikaryon
- dendrites
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the TIMP3 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- response to cytokine stimulus
- negative regulation of membrane protein ectodomain proteolysis
- negative regulation of endopeptidase activity
- response to hormone stimulus
- visual perception
cellular COMPONENT
Where in the cell the gene product is active
- nucleus
- extracellular space
- basement membrane
- platelet dense granule lumen
- extracellular matrix
- extracellular region
molecular FUNCTION
What the gene product does at the molecular level
- protein binding
- metal ion binding
- protease binding
- metalloendopeptidase inhibitor activity