RIMBP2 Gene Summary [Human]
Predicted to be involved in neuromuscular synaptic transmission. Predicted to be located in plasma membrane and synapse. Predicted to be active in presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RIMBP2 |
| Official Name | RIMS binding protein 2 [Source:HGNC Symbol;Acc:HGNC:30339] |
| Ensembl ID | ENSG00000060709 |
| Bio databases IDs | |
| Aliases | RIMS binding protein 2, protein phosphatase 1, regulatory subunit 133 |
| Synonyms | A930033C01Rik, KIAA0318, LOC102724399, mKIAA0318, PPP1R133, RBP2, RIMS binding protein 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 RIMBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated calcium channel
- Modifier of rudimentary (Mod(r)) protein
- Ezrin/radixin/moesin, alpha-helical domain
- FN3
- Coiled-coiled domain of autophagy-related 16 (Atg16) family proteins
- protein binding
- Fibronectin type 3 domain
- structural molecule
- voltage-gated ion channel
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- psychosis
- acute myeloid leukemia
- refractive error
- phobic anxiety disorder
- Parkinson disease
- tension headaches
regulated by
- IL1B
- bucladesine
- calmodulin
regulates
role in cell
- paired-pulse facilitation
- paired-pulse facilitation in
- clustering in
- transmission
- plasticity
- release
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
- glutaminergic synapse
- synaptic membrane
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RIMBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular synaptic transmission
Cellular Component
Where in the cell the gene product is active
- synapse
- plasma membrane