CHRNB2, encoding the β2 subunit of the α4β2 nicotine acetylcholine receptor, is involved in controlling neurotransmitter release. It plays a role in various physiological and pathologic processes, such as being associated with pathways like the β -catenin pathway, PI3K -AKT, and JAK -STAT pathways [1,3]. Genetic models, especially gene knockout models, can be valuable for studying its function.

In pancreatic cancer, knockdown of CHRNB2 expression acetylcholine-independently increases cell migration and invasion, while overexpression decreases these abilities. CHRNB2 negatively regulates the β -catenin pathway, EMT, migration, and invasion of pancreatic cancer cells [1].

In gastric cancer, knockdown of CHRNB2 attenuates cell proliferation, and knockout significantly influences cell survival and metastasis-related functions. Blockade of CHRNB2 signaling with a monoclonal antibody shows promise for controlling metastasis [3].

In mice, exposure to nicotine vapor reduces CHRNB2 expression, and in humans, rare coding variants in CHRNB2 reduce the likelihood of heavy smoking [2,5]. Also, variants in CHRNB2 are found in patients with epilepsy, including insular epilepsy and autosomal dominant nocturnal frontal lobe epilepsy, and in a Chinese boy with refractory seizures and developmental delay [4,6,7].

In conclusion, CHRNB2 is crucial in regulating cell migration, invasion, and proliferation in cancer, and in influencing smoking behavior and epilepsy-related phenotypes. Gene knockout and other functional studies in model organisms and humans have provided insights into its role in these disease areas, helping to understand the underlying molecular mechanisms and potentially guiding the development of new therapeutic strategies.