RIMBP3
RIMS Binding Protein 3
Gene Information Card
| Symbol | RIMBP3 |
|---|---|
| Full Name | RIMS Binding Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q9H1Z9 |
| OMIM ID | 612581 |
| HGNC ID | 26763 |
| Aliases | RIM-BP3, KIAA1638 |
Description
RIMBP3 (RIMS Binding Protein 3) is a protein-coding gene located on chromosome 22q11.21. It encodes a member of the RIM-binding protein family, which interacts with RIM (Rab3-interacting molecule) proteins and is involved in the regulation of neurotransmitter release and synaptic vesicle exocytosis. The gene is expressed in multiple tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic function due to RIMBP3 variants may disrupt neurotransmitter release, contributing to disease risk. | ClinVar, OMIM |
| Bipolar disorder | Potential association via synaptic dysfunction; limited direct evidence. | OMIM |
| Autism spectrum disorder | Rare variants in RIMBP3 have been reported in ASD cohorts, suggesting a possible role in neurodevelopmental pathways. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 5.1 | Low |
| Heart | 3.4 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| HEK293 | 2.3 | Embryonic kidney cells |
| HeLa | 1.8 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact; rare in population databases |
| c.567delG (p.Glu189fs) | Frameshift | <0.001% | Predicted loss-of-function; associated with neurodevelopmental phenotypes |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delG) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RIMBP3.
Dominant Negative (DN)
No dominant-negative mutations have been described for RIMBP3.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle exocytosis | • protein binding |
| • calcium ion binding | • regulation of neurotransmitter secretion |
Pathways
• Neurotransmitter release cycle
• Synaptic vesicle cycle
Protein Summary
RIMBP3 encodes a 1,450-amino acid protein that contains SH3 domains and proline-rich regions. It binds to RIM proteins and is implicated in the docking and priming of synaptic vesicles at the active zone. The protein is predominantly expressed in neurons and plays a role in calcium-dependent neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMBP3 Knockout HEK293 Cell Line | EDJ-KQ10349 | Human | 85376 | Details Get a Quote |
| RIMBP3B Knockout HEK293 Cell Line | EDJ-KQ15077 | Human | 440804 | Details Get a Quote |
| RIMBP3C Knockout HEK293 Cell Line | EDJ-KQ52037 | Human | 150221 | Details Get a Quote |
| RIMBP3 Knockout HeLa Cell Line | EDJ-KQ57705 | Human | 85376 | Details Get a Quote |
| RIMBP3C Knockout HeLa Cell Line | EDJ-KQ58652 | Human | 150221 | Details Get a Quote |
| RIMBP3B Knockout HeLa Cell Line | EDJ-KQ60406 | Human | 440804 | Details Get a Quote |
| RIMBP3 Knockout A-549 Cell Line | EDJ-KQ66208 | Human | 85376 | Details Get a Quote |
| RIMBP3C Knockout A-549 Cell Line | EDJ-KQ67133 | Human | 150221 | Details Get a Quote |
| RIMBP3B Knockout A-549 Cell Line | EDJ-KQ68874 | Human | 440804 | Details Get a Quote |
| RIMBP3 Knockout HCT 116 Cell Line | EDJ-KQ74633 | Human | 85376 | Details Get a Quote |
| RIMBP3C Knockout HCT 116 Cell Line | EDJ-KQ75539 | Human | 150221 | Details Get a Quote |
| RIMBP3B Knockout HCT 116 Cell Line | EDJ-KQ77236 | Human | 440804 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
