Last update 01 Nov 2024

DIP2B

Last update 01 Nov 2024

Basic Info

Synonyms

DIP2 homolog B, DIP2B, disco interacting protein 2 homolog B

+ [3]

Introduction

Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin.

100 Clinical Results associated with DIP2B

100 Translational Medicine associated with DIP2B

0 Patents (Medical) associated with DIP2B

Literatures (Medical) associated with DIP2B

15 Aug 2024·Cancer Research

Large-Scale Alternative Polyadenylation-Wide Association Studies to Identify Putative Cancer Susceptibility Genes

Article

Author: Giles, Graham G. ; Zheng, Wei ; Chen, Zhishan ; Gruber, Stephen B. ; Peters, Ulrike ; Shu, Xiao-Ou ; Pearlman, Rachel ; Casey, Graham ; Yang, Yaohua ; Zhang, Yunjing ; Cai, Qiuyin ; Wen, Wanqing ; Jia, Guochong ; Lin, Weiqiang ; Zhang, Qingrun ; Rennert, Gad ; Long, Jirong ; Guo, Xingyi ; Phipps, Amanda ; Tao, Ran ; He, Jingni ; Vodicka, Pavel ; Su, Xinwan ; Ping, Jie

AbstractAlternative polyadenylation (APA) modulates mRNA processing in the 3′-untranslated regions (3′ UTR), affecting mRNA stability and translation efficiency. Research into genetically regulated APA has the potential to provide insights into cancer risk. In this study, we conducted large APA-wide association studies to investigate associations between APA levels and cancer risk. Genetic models were built to predict APA levels in multiple tissues using genotype and RNA sequencing data from 1,337 samples from the Genotype-Tissue Expression project. Associations of genetically predicted APA levels with cancer risk were assessed by applying the prediction models to data from large genome-wide association studies of six common cancers among European ancestry populations: breast, ovarian, prostate, colorectal, lung, and pancreatic cancers. A total of 58 risk genes (corresponding to 76 APA sites) were associated with at least one type of cancer, including 25 genes previously not linked to cancer susceptibility. Of the identified risk APAs, 97.4% and 26.3% were supported by 3′-UTR APA quantitative trait loci and colocalization analyses, respectively. Luciferase reporter assays for four selected putative regulatory 3′-UTR variants demonstrated that the risk alleles of 3′-UTR variants, rs324015 (STAT6), rs2280503 (DIP2B), rs1128450 (FBXO38), and rs145220637 (LDHA), significantly increased the posttranscriptional activities of their target genes compared with reference alleles. Furthermore, knockdown of the target genes confirmed their ability to promote proliferation and migration. Overall, this study provides insights into the role of APA in the genetic susceptibility to common cancers.Significance: Systematic evaluation of associations of alternative polyadenylation with cancer risk reveals 58 putative susceptibility genes, highlighting the contribution of genetically regulated alternative polyadenylation of 3′UTRs to genetic susceptibility to cancer.

01 Jul 2024·American Journal of Medical Genetics Part A

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

Article

Author: Zweier, Christiane ; Nawaz, Urwah ; Nizon, Mathilde ; Amor, David J ; Pfundt, Rolph ; Reis, André ; Pasquier, Laurent ; Slavotinek, Anne ; Walsh, Matthew B ; Gaspar, Harald ; Cogné, Benjamin ; Gerber, Céline B ; Voineagu, Irina ; Masotto, Barbara ; Schnur, Rhonda E ; Bartos, Meghan N ; Morgan, Angela ; Kopps, Anna M ; Vincent, Marie ; Siu, Victoria Mok ; Rieubland, Claudine ; Ha, Thoa ; Palafoll, Maria Irene Valenzuela ; Beatty, Katelyn ; Braun, Dominique ; Margot, Henri ; de Vries, Bert B A ; Hurst, Anna C E ; Wechsler, Stephanie Burns ; Guillen Sacoto, Maria J ; Tessarech, Marine ; Thompson, Michelle L

AbstractThe disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco‐interacting protein 2 homolog A (DIP2A), Disco‐interacting protein 2 homolog B (DIP2B), and Disco‐interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss‐of‐function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss‐of‐function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10–24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss‐of‐function variants in DIP2C with a neurocognitive phenotype.

01 Jun 2024·Heliyon

Downregulation of DIP2B as a prognostic marker inhibited cancer proliferation and migration and was associated with immune infiltration in lung adenocarcinoma via CCND1 and MMP2

Article

Author: Jiang, Ni ; Chen, Jiu-Ling ; Huang, Huan ; Liu, Zhao ; Guo, Qiang ; Wang, Fang-Ming ; Han, Xu ; Du, Zhi-Peng ; Ye, Guan-Chao ; Wu, Chuang-Yan ; Luo, Wei-Min

BackgroundDIP2B is related to cancer progression. This study investigated the roles and pathways of DIP2B in lung adenocarcinoma (LUAD).MethodsDIP2B expression and the relationship between survival time of cancer patients and DIP2B expression were analyzed. The relationship between DIP2B expression and survival time in LUAD patients was evaluated by a meta-analysis. Cox and survival analyses were used to evaluate the prognostic factors and construct a prognostic nomogram. The mechanisms and effects of DIP2B and the relationship between DIP2B expression and the immune microenvironment were investigated using bioinformatics, CCK-8, western blotting, and transwell experiments.ResultsDIP2B was overexpressed in LUAD tissues. DIP2B overexpression was associated with shorter prognosis and was an unfavorable risk factor for prognosis in LUAD patients. DIP2B co-expressed genes were involved in cell division, DNA repair, cell cycle, and others. Inhibition of DIP2B expression could downregulate the proliferation, migration, and invasion of LUAD A549 and H1299 cells, which was related to the decrease in CCND1 and MMP2 protein expression. BRCA1 overexpression was associated with short prognosis, and the nomogram formed by DIP2B and BRCA1 was associated with a poor prognosis in LUAD patients. DIP2B expression correlated with immune cells (such as CD8 T cells, Tcm, and iDCs) and cell markers.ConclusionDIP2B is a potential biomarker of poor prognosis and the immune microenvironment in LUAD. Inhibition of DIP2B expression downregulated cancer cell proliferation, migration, and invasion, which might be related to the decrease in CCND1 and MMP2 protein expression. DIP2B-related nomograms might be useful tools for predicting the prognosis of LUAD patients.

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DIP2B

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