RIMS2 Gene Summary [Human]
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | RIMS2 |
| Official Name | regulating synaptic membrane exocytosis 2 [Source:HGNC Symbol;Acc:HGNC:17283] |
| Ensembl ID | ENSG00000176406 |
| Bio databases IDs | |
| Aliases | regulating synaptic membrane exocytosis 2 |
| Synonyms | 2810036I15Rik, CRSDS, KIAA0751, LOC100504393, LOC103692905, mKIAA0751, Nim2, OBOE, Rab3ip2, RAB3IP3, regulating synaptic membrane exocytosis 2, RIM2, Rim2(+40A), Rim2(+44A), Rim2(+4A), Rim2 gamma, Rim2 α, Rim2 γ, Serg2, Syt3-rs |
| 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 RIMS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein binding activity, bridging
- canonical PDZ domain
- BRcat_Rcat_RBR
- protein domain specific binding
- protein binding
- PDZ domain
- binding protein
- Rab binding domain
- ion channel binding
- PHD finger superfamily
- zinc finger domain
- structural molecule
- cpPDZ_Deg_HtrA-like
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- small cell lung cancer
- cocaine dependence
- congenital nonprogressive cone-rod synaptic disorder syndrome
- hyperplasia
- androgenic alopecia
- paraproteinemia
- behavioral deficit
- restless legs syndrome
role in cell
- quantity
- number
- morphology
- transmembrane potential
- innervation
- action potential
- exocytosis by
- docking
- extension
- neurotransmission
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
- presynaptic active zone
- glutaminergic synapse
- synapse
- transport vesicles
- ribbon synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RIMS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- insulin secretion
- positive regulation of synaptic transmission
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- intracellular protein transport
- positive regulation of inhibitory postsynaptic membrane potential
- calcium ion-dependent exocytosis of neurotransmitter
- regulation of membrane potential
- regulation of synaptic plasticity
- cell differentiation
- regulation of synaptic vesicle exocytosis
- calcium ion-dependent exocytosis
- positive regulation of excitatory postsynaptic membrane potential
- regulation of exocytosis
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- extracellular vesicular exosome
- presynaptic active zone
- presynaptic cytoskeletal matrix assembled at active zones
- cell projection
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- small GTPase binding
- ion channel binding