RAB3GAP2 Gene Summary [Human]
The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | RAB3GAP2 |
| Official Name | RAB3 GTPase activating non-catalytic protein subunit 2 [Source:HGNC Symbol;Acc:HGNC:17168] |
| Ensembl ID | ENSG00000118873 |
| Bio databases IDs | |
| Aliases | RAB3 GTPase activating non-catalytic protein subunit 2 |
| Synonyms | 1110059F07Rik, 2010002H18Rik, 5830469C09, MARTS1, mKIAA0839, p150, RAB3-GAP150, RAB3 GTPase activating non-catalytic protein subunit 2, RAB3 GTPase activating protein subunit 2, RGD1311518, SPG69, WARBM2 |
| 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 RAB3GAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab3 GTPase-activating protein regulatory subunit C-terminus
- guanyl-nucleotide exchange factor
- Rab3 GTPase-activating protein regulatory subunit N-terminus
- enzyme binding
- GTPase activator
- enzyme
- protein binding
- enzyme regulator activity
- enzyme activator activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- breast cancer
- warburg micro syndrome type 2
- Martsolf syndrome
- organismal death
- gigantomastia
- Warburg Micro syndrome
regulates
role in cell
- assembly
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
- Plasma Membrane
- cytosol
- endoplasmic reticulum membrane
- transport vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB3GAP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of GTPase activity
- positive regulation of autophagic vacuole assembly
- intracellular protein transport
- establishment of protein localization in endoplasmic reticulum membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytosol
- macromolecular complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity
- small GTPase binding
- enzyme activator activity
- enzyme regulator activity