RIMBP2

Last update 08 May 2025

Basic Info

Synonyms

KIAA0318, MGC15831, PPP1R133

+ [5]

Introduction

Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.

100 Clinical Results associated with RIMBP2

100 Translational Medicine associated with RIMBP2

0 Patents (Medical) associated with RIMBP2

Literatures (Medical) associated with RIMBP2

01 Jan 2025·Cancer Gene Therapy

N6-methyladenosine modification of RIMS binding protein 2 promotes head and neck squamous cell carcinoma proliferation and radiotherapy tolerance through endoplasmic reticulum stress

Article

Author: Wang, Xu ; Sun, Xinyu ; Liang, Yuntong ; Lu, Hanqiang ; Liu, Hao ; Zhang, Yanshu ; Wang, Huirong ; Yuan, Xiao ; Pu, Xi

Insulin-like growth factor binding protein 2 (IGF2BP2) fulfills a key role in the development of head and neck squamous cell carcinoma (HNSCC). Radiotherapy is an effective method to treat HNSCC; however, radiation resistance is the main reason for treatment failure. At present, the carcinogenic role of IGF2BP2 in terms of the proliferation of HNSCC and the radioresistance of its therapy remain poorly understood. In the present study, patients with HNSCC with higher IGF2BP2 expression levels were associated with shorter survival times. IGF2BP2 is significantly upregulated in HNSCC cells compared with irradiated cell. Based on functional studies, IGF2BP2 was found to promote HNSCC cell proliferation and tolerance to radiotherapy both in vitro and in vivo. In terms of the underlying mechanism, RIMS binding protein 2 (RIMBP2) was found to be highly expressed in HNSCC and to promote the proliferation of HNSCC and radiotherapy resistance. RIMBP2 was shown to be a direct target of IGF2BP2, activating endoplasmic reticulum stress in HNSCC. In addition, it has been demonstrated that IGF2BP2, as m6A reader, is able to promote RIMBP2 stability via binding to m6A sites in the RIMBP2-coding sequence region. Therefore, the present study has unveiled a potential mechanism via which IGF2BP2 promotes HNSCC development and radiotherapy resistance; moreover, from a therapeutic perspective, IGF2BP2 may serve as a potential therapeutic target and a valuable prognostic biomarker for patients with HNSCC who have developed tolerance towards radiotherapy.

01 Apr 2024·Biological Psychiatry

TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons

Article

Author: Davis, Brittany A ; Sripathy, Srinidhi Rao ; Chen, Huei-Ying ; Das, Debamitra ; Wang, Yanhong ; Moses, Rebecca L ; Martin, Jacqueline M ; Maher, Brady J ; Panchwagh, Neel M ; Farinelli, Federica ; Bohlen, Joseph F ; Ye, Zengyou ; Jaffe, Andrew E ; Shim, Gina ; Tippani, Madhavi ; Li, Meijie ; Luikart, Bryan W ; Ostlund, Isaac

BACKGROUNDGenetic variation in the TCF4 (transcription factor 4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of autism spectrum disorder called Pitt-Hopkins syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed during cortical development and in animal models has been shown to regulate various aspects of neuronal development and function. However, our understanding of how disease-causing mutations in TCF4 confer pathophysiology in a human context is lacking.METHODSTo model PTHS, we differentiated human cortical neurons from human induced pluripotent stem cells that were derived from patients with PTHS and neurotypical individuals. To identify pathophysiology and disease mechanisms, we assayed cortical neurons with whole-cell electrophysiology, Ca²⁺ imaging, multielectrode arrays, immunocytochemistry, and RNA sequencing.RESULTSCortical neurons derived from patients with TCF4 mutations showed deficits in spontaneous synaptic transmission, network excitability, and homeostatic plasticity. Transcriptomic analysis indicated that these phenotypes resulted in part from altered expression of genes involved in presynaptic neurotransmission and identified the presynaptic binding protein RIMBP2 as the most differentially expressed gene in PTHS neurons. Remarkably, TCF4-dependent deficits in spontaneous synaptic transmission and network excitability were rescued by increasing RIMBP2 expression in presynaptic neurons.CONCLUSIONSTaken together, these results identify TCF4 as a critical transcriptional regulator of human synaptic development and plasticity and specifically identifies dysregulation of presynaptic function as an early pathophysiology in PTHS.

31 Dec 2023·COPD: Journal of Chronic Obstructive Pulmonary Disease

Sex-Specific Genetic Determinants of Asthma-COPD Phenotype and COPD in Middle-Aged and Older Canadian Adults: An Analysis of CLSA Data

Article

Author: Odimba, Ugochukwu ; Senthilselvan, Ambikaipakan ; Farrell, Jamie ; Gao, Zhiwei

The etiology of sex differences in the risk of asthma-COPD phenotype and COPD is still not completely understood. Genetic and environmental risk factors are commonly believed to play an important role. This study aims to identify sex-specific genetic markers associated with asthma-COPD phenotype and COPD using the Canadian Longitudinal Study on Aging (CLSA) Baseline Comprehensive and Genomic data. There were a total of 1,415 COPD cases. Out of them, 504 asthma-COPD phenotype cases were identified. 20,524 participants without a diagnosis of asthma and COPD served as controls. We performed genome-wide SNP-by-sex interaction analysis. SNPs with an interaction p-value < 10^-5 were included in a sex-stratified multivariable logistic regression for asthma-COPD phenotype and COPD outcomes. 18 and 28 SNPs had a significant interaction term p-value < 10^-5 with sex in the regression analyses of asthma-COPD phenotype and COPD outcomes, respectively. Sex-stratified multivariable analysis of asthma-COPD phenotype showed that 7 SNPs in/near SMYD3, FHIT, ZNF608, RIMBP2, ZNF133, BPIFB1, and S100B loci were significant in males. Sex-stratified multivariable analysis of COPD showed that 8 SNPs in/near MAGI1, COX18, OSTC, ELOVL5, C7orf72 FGF14, and NKAIN4 were significant in males, and 4 SNPs in/near genes CAMTA1, SATB2, PDE10A, and LINC00908 were significant in females. An SNP in the ZPBP gene was associated with COPD in both males and females. Identification of sex-specific loci associated with asthma-COPD phenotype and COPD may offer valuable evidence toward a better understanding of the sex-specific differences in the pathophysiology of the diseases.

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RIMBP2

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