Gnb2, the Guanine-nucleotide binding protein 2, encodes for the β2 subunit (Gβ2) of the G-protein complex. G-proteins mediate signalling pathways involved in diverse cellular functions [1,2,4,6]. The G-protein complex, with Gnb2 as part of it, participates in integrating signals between receptors and effector proteins, and is thus of great biological importance [6]. Genetic models can be valuable for studying Gnb2's functions.

Research has found that Gnb2 is notably up-regulated relative to controls in twenty-three cancer types, and its elevated expression is associated with reduced overall survival in Liver Hepatocellular Carcinoma (LIHC) and Rectum Adenocarcinoma (READ), indicating its role in the tumorigenesis of these cancers [1]. In addition, recurrent de novo missense variants in Gnb2 can cause syndromic intellectual disability [2]. A somatic mutation in Gnb2 has been discovered in a patient with Sturge-Weber syndrome (SWS), which may shed light on the pathogenesis of SWS [5]. Also, Gnb2 is a mediator of lidocaine-induced apoptosis in rat pheochromocytoma PC12 cells [3].

In conclusion, Gnb2 plays essential roles in multiple biological processes and disease conditions. Its involvement in cancer, neurodevelopmental disorders like syndromic intellectual disability, and SWS, as well as its role in lidocaine-induced apoptosis, has been revealed through various studies. These findings contribute to our understanding of the biological functions of Gnb2 and its significance in different disease areas.

References:

1. Zhang, L, Sahar, A M, Li, C, Feng, W, Hameed, Y. 2022. A detailed multi-omics analysis of GNB2 gene in human cancers. In Brazilian journal of biology = Revista brasleira de biologia, 84, e260169. doi:10.1590/1519-6984.260169. https://pubmed.ncbi.nlm.nih.gov/35730811/

2. Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Christodoulou, John, White, Susan M. 2021. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. In Journal of medical genetics, 59, 511-516. doi:10.1136/jmedgenet-2020-107462. https://pubmed.ncbi.nlm.nih.gov/34183358/

3. Tan, Yonghong, Wang, Qiong, Zhao, Baisong, She, Yingjun, Bi, Xiaobao. 2016. GNB2 is a mediator of lidocaine-induced apoptosis in rat pheochromocytoma PC12 cells. In Neurotoxicology, 54, 53-64. doi:10.1016/j.neuro.2016.03.015. https://pubmed.ncbi.nlm.nih.gov/27018092/

4. Lansdon, Lisa A, Fleming, Emily A, Viso, Florencia Del, Sullivan, Bonnie R, Saunders, Carol J. 2021. Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association. In European journal of medical genetics, 64, 104243. doi:10.1016/j.ejmg.2021.104243. https://pubmed.ncbi.nlm.nih.gov/33971351/

5. Fjær, Roar, Marciniak, Katarzyna, Sundnes, Olav, Haraldsen, Guttorm, Selmer, Kaja Kristine. . A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. In Human molecular genetics, 30, 1919-1931. doi:10.1093/hmg/ddab144. https://pubmed.ncbi.nlm.nih.gov/34124757/

6. Fukuda, Tokiko, Hiraide, Takuya, Yamoto, Kaori, Ogata, Tsutomu, Saitsu, Hirotomo. 2019. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. In European journal of medical genetics, 63, 103804. doi:10.1016/j.ejmg.2019.103804. https://pubmed.ncbi.nlm.nih.gov/31698099/