Ppfia2, also known as Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting-Protein Alpha-2 or Liprin alfa 2, is a gene with potential involvement in multiple biological processes. It belongs to the PPFIA gene family, and proteins in this family are related to functions like trafficking of LAR subfamily PTPases and AMPA-type glutamate receptors [4]. However, its exact core function and associated pathways are still being explored, and genetic models would be valuable for in-depth study.

In prostate cancer, Ppfia2 was identified as one of the crucial genes associated with Gleason score (GS) upgrading. The genetic analysis across PCa section sites showed that genes like Ppfia2 were related to the spatial patterns of histological structures with different GSs, and its role in the progression of GS might be through functions such as cadherin binding, Golgi vesicle transport, protein folding, and cell adhesion molecules [1].

In a study on cannabis use, Ppfia2 mRNA expression was significantly higher in heavy cannabis users. Its expression level was negatively correlated with estimated intelligence, both in users and non-users. In vitro, exposure of monocytes to CBD led to an increase in Ppfia2 expression, suggesting a putative mechanism by which cannabis could influence neuropsychological functions [2].

In high-grade myopia research, an intronic SNP within Ppfia2 was associated with high-grade myopia in both qualitative and quantitative testing, and Ppfia2 was identified as a differentially expressed gene in normal rapidly growing fetal relative to normal adult ocular tissue [3].

In a GWAS of Luning chickens, Ppfia2 was identified as an important candidate gene for the growth of chickens [5].

In conclusion, Ppfia2 appears to play important roles in various biological processes and disease conditions, including cancer progression, neuropsychological function, myopia development, and chicken growth. Although no KO/CKO mouse model-based findings were presented in the references, the existing studies suggest that further exploration using such models could potentially reveal more precise mechanisms of Ppfia2's functions in these disease areas.

References:

1. Quan, Yongjun, Zhang, Hong, Wang, Mingdong, Ping, Hao. 2023. Visium spatial transcriptomics reveals intratumor heterogeneity and profiles of Gleason score progression in prostate cancer. In iScience, 26, 108429. doi:10.1016/j.isci.2023.108429. https://pubmed.ncbi.nlm.nih.gov/38077153/

2. He, Yujie, de Witte, Lot D, Schubart, Chris D, Hol, Elly M, Boks, Marco P. 2019. Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function. In European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology, 29, 643-652. doi:10.1016/j.euroneuro.2019.03.004. https://pubmed.ncbi.nlm.nih.gov/30879928/

3. Hawthorne, Felicia, Feng, Sheng, Metlapally, Ravikanth, Hammond, Christopher J, Young, Terri L. 2013. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. In Investigative ophthalmology & visual science, 54, 2076-86. doi:10.1167/iovs.12-11102. https://pubmed.ncbi.nlm.nih.gov/23422819/

4. Katoh, Masuko, Katoh, Masaru. . Identification and characterization of human PPFIA4 gene in silico. In International journal of molecular medicine, 12, 1009-14. doi:. https://pubmed.ncbi.nlm.nih.gov/14612982/

5. Li, Zhiyi, Nong, Yi, Liu, Yuan, Wang, Jiayan, Li, Zhixiong. 2025. Genome-Wide Association Study of Body Size Traits in Luning Chickens Using Whole-Genome Sequencing. In Animals : an open access journal from MDPI, 15, . doi:10.3390/ani15070972. https://pubmed.ncbi.nlm.nih.gov/40218365/