TBL2 Gene Summary [Human]
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBL2 |
| Official Name | transducin beta like 2 [Source:HGNC Symbol;Acc:HGNC:11586] |
| Ensembl ID | ENSG00000106638 |
| Bio databases IDs | |
| Aliases | transducin beta like 2, Williams-Beuren syndrome chromosome region 13 |
| Synonyms | C76179, transducin (beta)-like 2, transducin beta like 2, transducin (β)-like 2, transducin β like 2, WBSCR13, WS-betaTRP, WS-bTRP |
| 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 TBL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- WD40 repeats
- WD domain, G-beta repeat
- phosphoprotein binding
- WD40
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- pH resistant lipid raft fraction
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endoplasmic reticulum unfolded protein response
- cellular response to hypoxia
- cellular response to glucose starvation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- RNA binding
- phosphoprotein binding
- translation initiation factor binding