RIMBP3B Gene - RIMS Binding Protein 3B
Comprehensive genomic and functional annotation of RIMBP3B
Gene Information Card
| Symbol | RIMBP3B |
|---|---|
| Full Name | RIMS Binding Protein 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q9HAP8 |
| OMIM ID | 611879 |
| HGNC ID | 26782 |
| Aliases | RIM-BP3B, RIMBP3, RIMBP3A |
Description
RIMBP3B (RIMS Binding Protein 3B) is a protein-coding gene located on chromosome 22q11.21. It encodes a member of the RIM-binding protein family, which is involved in synaptic vesicle exocytosis and neurotransmitter release. The protein contains SH3 domains that interact with RIM proteins and voltage-gated calcium channels, playing a role in regulating synaptic transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic function due to RIMBP3B dysregulation | Association study (PMID: 20468064) |
| Bipolar disorder | Potential involvement in synaptic plasticity | GWAS (PMID: 21926972) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 0.8 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 1.5 | Neuronal cell line |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown |
| c.567_568del | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to nonsense-mediated decay or truncated protein.
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)
| • synaptic vesicle exocytosis (GO:0030672) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04721)
Protein Summary
RIMBP3B is a 1,200-amino acid protein containing three SH3 domains. It localizes to presynaptic active zones and binds to RIM1/2 and voltage-gated calcium channels, facilitating vesicle docking and calcium-dependent exocytosis. Expression is primarily neuronal.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMBP3B Knockout HEK293 Cell Line | EDJ-KQ15077 | Human | 440804 | Details Get a Quote |
| RIMBP3B Knockout HeLa Cell Line | EDJ-KQ60406 | Human | 440804 | Details Get a Quote |
| RIMBP3B Knockout A-549 Cell Line | EDJ-KQ68874 | Human | 440804 | Details Get a Quote |
| RIMBP3B Knockout HCT 116 Cell Line | EDJ-KQ77236 | Human | 440804 | Details Get a Quote |
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