TBC1D2 Gene Summary [Human]
Enables GTPase activator activity and cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TBC1D2 |
| Official Name | TBC1 domain family member 2 [Source:HGNC Symbol;Acc:HGNC:18026] |
| Ensembl ID | ENSG00000095383 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 2, prostate antigen recognized and identified by SEREX |
| Synonyms | A630005A06Rik, Armus, BC022630, Gm1037, PARIS-1, TBC1D2A, TBC1 domain family member 2, TBC1 domain family, member 2 |
| 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 TBC1D2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab-GTPase-TBC domain
- Domain in Tre-2, BUB2p, and Cdc16p
- PH domain
- GTPase activator
- cadherin binding
- protein binding
- Pleckstrin homology-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Rett syndrome
- systemic sclerosis
- endometrioma
- post-traumatic stress disorder
- lung cancer
- hypertrophic cardiomyopathy
regulates
- RAB7A
- GTPase
role in cell
- morphology
- formation
- degradation
- degradation in
- accumulation in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell junction
- Plasma Membrane
- cytosol
- nucleoplasm
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- anchoring junction
- cell junction
- cytosol
- cytoplasmic vesicle
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- GTPase activator activity