SGSM2 Gene Summary [Human]
The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SGSM2 |
| Official Name | small G protein signaling modulator 2 [Source:HGNC Symbol;Acc:HGNC:29026] |
| Ensembl ID | ENSG00000141258 |
| Bio databases IDs | |
| Aliases | small G protein signaling modulator 2 |
| Synonyms | D630003G22Rik, mKIAA0397, RUTBC1, small G protein signaling modulator 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 SGSM2 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 involved in Ras-like GTPase signaling
- Rab-binding domain (RBD)
- enzyme binding
- GTPase activator
- Pleckstrin homology-like domain
- RUN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- multiple sclerosis
- hypertension
- pervasive developmental disorder
- insomnia
- papillary thyroid cancer
- migraines
regulated by
- beta-estradiol
role in cell
- phosphorylation in
- activation in
- proliferation
- migration
- invasion by
- autophagy 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
- melanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGSM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- late endosome to Golgi transport
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- melanosome
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- GTPase activator activity
- small GTPase binding