Cacng3, without common aliases mentioned in the provided references, is likely related to synaptic transmission based on functional annotation and pathway enrichment analysis of differently expressed genes, suggesting its importance in neural-related biological processes [1]. It is also associated with voltage-gated calcium channels, which are crucial in neuronal electrical activity [3,6,7]. Genetic models can be valuable in further exploring its functions.

In glioma, Cacng3 is expressed at low levels in the tumor group, and patients with low Cacng3 expression have shorter overall survival. Its expression is negatively associated with glioma grades, and it can serve as a biomarker for the mesenchymal molecular subtype. Additionally, temozolomide, a glioma treatment drug, increases Cacng3 expression in a dose-and time-dependent manner [1].

In childhood absence epilepsy, linkage and association analysis support Cacng3 as a susceptibility locus in a subset of patients, though no putative causal variants were identified in coding exons [3].

In age-related macular degeneration, evidence from linkage and association studies suggests Cacng3 is a candidate risk gene within the 16p12 linkage peak [4].

In pancreatic cancer, Cacng3 is among the genes with negative regulation identified by machine-learning algorithms, and its role in the disease pathogenesis is indicated [2].

In autism spectrum disorder (ASD) iPSC-derived neurons with NRXN1α+/- deletion, Cacng3 is among the genes with significant up-regulation of glutamatergic synapse and ion channels/transporter activity, likely contributing to increased neuronal excitability [5].

In conclusion, Cacng3 plays significant roles in multiple disease conditions. In glioma, it is related to prognosis and can potentially be a biomarker and therapeutic target. In epilepsy, it may contribute to susceptibility. In age-related macular degeneration, it could be a risk gene. In pancreatic cancer, it is involved in disease-related regulation, and in ASD-related neuronal excitability, it has a part to play. These findings from various research models, including in-vivo-like studies in human patients, help understand the complex functions of Cacng3 in different biological processes and disease mechanisms.

References:

1. Shan, Enfang, Cao, Yi-Nan, Zhang, Yang, Zhi, Tongle, Li, Xianwen. 2023. Integrated profiling identifies CACNG3 as a prognostic biomarker for patients with glioma. In BMC cancer, 23, 846. doi:10.1186/s12885-023-10896-1. https://pubmed.ncbi.nlm.nih.gov/37697240/

2. Khojasteh-Leylakoohi, Fatemeh, Mohit, Reza, Khalili-Tanha, Nima, Batra, Jyotsna, Avan, Amir. 2023. Down regulation of Cathepsin W is associated with poor prognosis in pancreatic cancer. In Scientific reports, 13, 16678. doi:10.1038/s41598-023-42928-y. https://pubmed.ncbi.nlm.nih.gov/37794108/

3. Everett, Kate V, Chioza, Barry, Aicardi, Jean, Rees, Michele, Gardiner, Mark. 2007. Linkage and association analysis of CACNG3 in childhood absence epilepsy. In European journal of human genetics : EJHG, 15, 463-72. doi:. https://pubmed.ncbi.nlm.nih.gov/17264864/

4. Spencer, Kylee L, Olson, Lana M, Schnetz-Boutaud, Nathalie, Pericak-Vance, Margaret A, Haines, Jonathan L. 2011. Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. In Investigative ophthalmology & visual science, 52, 1748-54. doi:10.1167/iovs.09-5112. https://pubmed.ncbi.nlm.nih.gov/21169531/

5. Avazzadeh, Sahar, Quinlan, Leo R, Reilly, Jamie, Shen, Sanbing, Gallagher, Louise. 2021. NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons. In BMC neuroscience, 22, 56. doi:10.1186/s12868-021-00661-0. https://pubmed.ncbi.nlm.nih.gov/34525970/

6. Yalçın, Ozlem. 2011. Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies. In Seizure, 21, 79-86. doi:10.1016/j.seizure.2011.12.002. https://pubmed.ncbi.nlm.nih.gov/22206818/

7. Robinson, Robert, Taske, Nichole, Sander, Thomas, Rees, Michele, Gardiner, R Mark. . Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. In Epilepsy research, 48, 169-79. doi:. https://pubmed.ncbi.nlm.nih.gov/11904235/