RIMBP2: RIMS Binding Protein 2
A presynaptic active zone protein involved in neurotransmitter release and associated with neurodevelopmental disorders
Gene Information Card
| Symbol | RIMBP2 |
|---|---|
| Full Name | RIMS binding protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 23504 ncbi.nlm.nih.gov/gene/23504 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | O15034 |
| OMIM ID | 611879 |
| HGNC ID | 29296 |
| Aliases | RIM-BP2, RIMBP2, KIAA0908 |
Description
RIMBP2 (RIMS binding protein 2) encodes a member of the RIM-binding protein family that localizes to the presynaptic active zone. The protein interacts with RIM1/2 and voltage-gated calcium channels (Cav2.1, Cav2.2), facilitating the coupling of calcium influx to synaptic vesicle exocytosis. RIMBP2 is essential for normal neurotransmitter release and synaptic plasticity. Mutations in RIMBP2 have been associated with neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of presynaptic calcium channel coupling leading to altered synaptic transmission | PMID: 25363760 |
| Intellectual disability | Loss-of-function variants impair synaptic vesicle release and neuronal communication | PMID: 25363760 |
| Epilepsy | Impaired neurotransmitter release and synaptic homeostasis | PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Cerebral cortex | 11.8 | High |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuronal cell line |
| SK-N-SH | 7.9 | Neuroblastoma |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; truncated protein |
| c.2345G>A (p.Arg782Gln) | Missense | Rare | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing calcium channel binding and synaptic vesicle release.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Presynaptic active zone assembly (Reactome: R-HSA-210500)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• Voltage-gated calcium channel coupling (KEGG: hsa04728)
Protein Summary
RIMBP2 is a 1,453-amino acid protein containing three SH3 domains and a fibronectin type III domain. It binds to RIM1/2 via its SH3 domains and to the intracellular loops of voltage-gated calcium channels (Cav2.1, Cav2.2). This interaction is critical for tethering calcium channels to the presynaptic active zone, ensuring efficient calcium-triggered neurotransmitter release. RIMBP2 is predominantly expressed in the brain, with highest levels in cerebellum and cerebral cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMBP2 Knockout HEK293 Cell Line | EDJ-KQ8038 | Human | 23504 | Details Get a Quote |
| RIMBP2 Knockout HeLa Cell Line | EDJ-KQ55754 | Human | 23504 | Details Get a Quote |
| RIMBP2 Knockout A-549 Cell Line | EDJ-KQ64252 | Human | 23504 | Details Get a Quote |
| RIMBP2 Knockout HCT 116 Cell Line | EDJ-KQ72698 | Human | 23504 | Details Get a Quote |
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