RASD2 Gene Summary [Human]
This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | RASD2 |
| Official Name | RASD family member 2 [Source:HGNC Symbol;Acc:HGNC:18229] |
| Ensembl ID | ENSG00000100302 |
| Bio databases IDs | |
| Aliases | RASD family member 2, tumor endothelial marker 2, Ras homolog enriched in striatum |
| Synonyms | 4930526B11RIK, RASD family member 2, RASD family, member 2, Rhes, TEM-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 RASD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- 50S ribosome-binding GTPase
- enzyme binding
- enzyme
- protein binding
- Ras subfamily of RAS small GTPases
- GTP binding
- phosphoinositide 3-kinase binding
- small GTP-binding protein domain
- Rab subfamily of small GTPases
- Ras of Complex, Roc, domain of DAPkinase
- Rho (Ras homology) subfamily of Ras-like small GTPases
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the RASD2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Agrin Interactions at Neuromuscular Junction
- Angiopoietin Signaling
- Bladder Cancer Signaling
- Chemokine Signaling
- CNTF Signaling
- ERK5 Signaling
- FLT3 Signaling in Hematopoietic Progenitor Cells
- Glucocorticoid Receptor Signaling
- GM-CSF Signaling
- JAK/Stat Signaling
- LPS-stimulated MAPK Signaling
- Neuregulin Signaling
- Neurotrophin/TRK Signaling
- NF-κB Signaling
- Oncostatin M Signaling
- PAK Signaling
- PDGF Signaling
- PEDF Signaling
- PPAR Signaling
- Prolactin Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Role of JAK1 and JAK3 in γc Cytokine Signaling
- TGF-β Signaling
- Thyroid Cancer Signaling
- UVC-Induced MAPK Signaling
- VEGF Family Ligand-Receptor Interactions
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dystonia
- diabetic nephropathy
- Huntington disease
- motor dysfunction
- motor dysfunction or movement disorder
role in cell
- survival
- autophagy by
- sumoylation in
- binding 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.
- Cytoplasm
- cellular membrane
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RASD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, dopaminergic
- locomotory behavior
- regulation of cAMP-mediated signaling
- signal transduction
- positive regulation of protein sumoylation
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- G-protein beta-subunit binding
- GTPase activity