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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RIMBP2
RIMS binding protein 2
Chromosome 12 · 12q24.33
NCBI Gene: 23504Ensembl: ENSG00000060709.17HGNC: HGNC:30339UniProt: A0A2R8Y6Z0
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neuromuscular synaptic transmissionplasma membranesynapseAbnormality of refractionneurodegenerative diseaseintracranial hemorrhagebenign prostatic hyperplasia
✦AI Summary

RIMBP2 (RIMS binding protein 2) functions as a presynaptic bifunctional linker protein that simultaneously interacts with RIMS1, RIMS2, and voltage-gated calcium channels (CACNA1D and CACNA1B) to regulate synaptic transmission 12. The protein is critical for normal neuromuscular synaptic function and plays an essential role in synaptic development and plasticity in cortical neurons. RIMBP2 dysregulation has significant disease relevance across multiple conditions. In Pitt-Hopkins syndrome (PTHS), caused by TCF4 mutations, RIMBP2 emerges as the most differentially expressed gene in patient-derived neurons, with reduced expression contributing to deficits in spontaneous synaptic transmission, network excitability, and homeostatic plasticity 12. Remarkably, restoring RIMBP2 expression rescues these synaptic deficits, identifying it as a critical therapeutic target. RIMBP2 dysfunction has also been associated with anxiety disorders, as altered DNA methylation at RIMBP2 loci correlates with anxiety disorder status independent of depression comorbidity 3. Additionally, RIMBP2 shows potential clinical relevance in hearing function and appears implicated in various cancers and pulmonary disease susceptibility based on genetic studies 45. These findings position RIMBP2 as a crucial regulator of presynaptic function with broad implications for neuropsychiatric and developmental disorders.

Sources cited
1
TCF4 mutations dysregulate RIMBP2 expression, which is the most differentially expressed gene in PTHS patient neurons and controls spontaneous synaptic transmission and network excitability
PMID: 36712024
2
RIMBP2 functions as a presynaptic binding protein; its increased expression rescues TCF4-dependent synaptic deficits in cortical neurons
PMID: 37573005
3
RIMBP2 DNA methylation is significantly associated with anxiety disorder status independent of depression comorbidity
PMID: 40281224
4
RIMBP2 is expressed in multiple cochlear cell types and genetic variants show association with normal hearing function
PMID: 24454846
5
RIMBP2 SNPs show sex-specific associations with asthma-COPD phenotype in males
PMID: 37466093
Disease Associationsⓘ20
Abnormality of refractionOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.29Weak
intracranial hemorrhageOpen Targets
0.28Weak
benign prostatic hyperplasiaOpen Targets
0.27Weak
Phenotypic abnormalityOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.26Weak
thrombophiliaOpen Targets
0.26Weak
liver cancerOpen Targets
0.25Weak
response to antihypertensive drugOpen Targets
0.24Weak
vitamin B deficiencyOpen Targets
0.24Weak
Tension-type headacheOpen Targets
0.24Weak
ocular hypotensionOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.21Weak
idiopathic aplastic anemiaOpen Targets
0.19Weak
phobic disorderOpen Targets
0.18Weak
glioblastoma multiformeOpen Targets
0.04Suggestive
lung carcinomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.03Suggestive
medulloblastomaOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB3CProtein interaction84%RAB3AProtein interaction76%RIMS2Protein interaction76%UNC13BProtein interaction76%RIMS1Protein interaction76%CACNA1AProtein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
22%
Bone Marrow
8%
Liver
2%
Heart
2%
Lung
1%
Gene Interaction Network
Click a node to explore
RIMBP2RAB3CRAB3ARIMS2UNC13BRIMS1CACNA1A
PROTEIN STRUCTURE
Preparing viewer…
PDB1WIE · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.46 [0.36–0.59]
RankingsWhere RIMBP2 stands among ~20K protein-coding genes
  • #14,520of 20,598
    Most Researched19
  • #4,015of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedRIMBP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenetic markers of disease risk and psychotherapy response in anxiety disorders - a longitudinal analysis of the DNA methylome.
PMID: 40281224
Mol Psychiatry · 2025
1.00
2
TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons.
PMID: 36712024
bioRxiv · 2023
0.90
3
TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
PMID: 37573005
Biol Psychiatry · 2024
0.80
4
Multi-omics analysis at epigenomics and transcriptomics levels reveals prognostic subtypes of lung squamous cell carcinoma.
PMID: 32036209
Biomed Pharmacother · 2020
0.70
5
Radial Data Visualization-Based Step-by-Step Eliminative Algorithm to Predict Colorectal Cancer Patients' Response to FOLFOX Therapy.
PMID: 39596218
Int J Mol Sci · 2024
0.60