RIMBP2
protein-codingRIMS binding protein 2, the group of Protein phosphatase 1 regulatory subunits
Gene summary
Predicted to enable protein-macromolecule adaptor activity; voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels; and voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in neuromuscular synaptic transmission; regulation of calcium-dependent activation of synaptic vesicle fusion; and regulation of presynaptic membrane potential. Predicted to be located in plasma membrane and synapse. Predicted to be active in several cellular components, including calyx of Held; presynaptic active zone cytoplasmic component; and synaptic ribbon. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~372.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RIMBP2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001393629.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 8 | 11 | |||
| missense | 174 | 10 | 1 | 185 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 180 | 18 | 1 | 199 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001380558.1 | 19 | MANE Select | |
| Ensembl | ENSP00000509157.1 | 19 | MANE Select | |
| RefSeq | NP_001338155.1 | 18 | Standard | |
| RefSeq | NP_001338156.1 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- neuromuscular synaptic transmission
- negative regulation of phosphatase activity
Cellular Component
- plasma membrane
- cell junction
- synapse
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000261655
- Coding exons
- 17
- Length
- 320145
- Individuals with no LoFs
- 125683
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 65
- Defined
- 125748
- p
- 0.000258
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.34 | 562 | 658 | 0.853 | 0.0000439 | 6809 |
| Missense (PolyPhen) | 146 | 240.13 | 0.608 | 2516 | ||
| Synonymous | -1.02 | 310 | 288 | 1.08 | 0.0000223 | 2130 |
| Loss of Function | 4.82 | 9 | 43.2 | 0.208 | 0.00000207 | 513 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00030 | 0.00029 | rare |
| Ashkenazi Jewish | 0.00082 | 0.00079 | rare |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.00023 | 0.00023 | rare |
| European (Non-Finnish) | 0.00028 | 0.00027 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.104
Intolerance Scores
- LoFtool
- 0.418
- RVIS EVS
- -2.07
- RVIS percentile EVS
- 1.62
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.732
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |