TSPAN12 Gene Summary [Human]
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TSPAN12 |
| Official Name | tetraspanin 12 [Source:HGNC Symbol;Acc:HGNC:21641] |
| Ensembl ID | ENSG00000106025 |
| Bio databases IDs | |
| Aliases | tetraspanin 12 |
| Synonyms | 9030619E17, EVR5, NET-2, tetraspanin 12, TM4SF12 |
| 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 TSPAN12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- palmitoylation site
- tetraspanin_LEL
- protein binding
- Tetraspanin family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- uterine leiomyoma
- migraines
- exudative vitreoretinopathy type 5
- TSPAN12-related exudative vitreoretinopathy
- atrophia bulborum hereditaria
- leiomyomatosis
- disrupted blood brain barrier
- retinal dystrophy
- adenomyosis
- systemic lupus erythematosus
role in cell
- proteolysis in
- maturation 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.
- Plasma Membrane
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSPAN12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- angiogenesis
- retina layer formation
- regulation of angiogenesis
- cell surface receptor signaling pathway
- maintenance of blood-brain barrier
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- Wnt-activated receptor activity
- protein binding