Efcab2, an EF-hand calcium-binding domain-containing gene, encodes a protein with potential roles in various biological processes. Calcium-binding proteins, like the one encoded by Efcab2, are crucial for regulating ion metabolism and necessary signaling pathways, especially in sperm maturation [1]. Efcab2 may also be involved in bone microarchitecture regulation in a gender-specific manner [3].

In mouse studies, Efcab2 was found to be a novel calcium-binding protein in testis and sperm. It has definitive structural features, including seven α-helices and two EF-hand motifs, and is conserved among eukaryotes. Its mRNA was detected only in the testis. The protein was localized specifically in spermatogenic cells from primary spermatocytes to elongate spermatids and in the principal piece of cauda epididymal sperm flagellum, suggesting its involvement in sperm flagellar movement [1]. In mouse osteoblastic cell line MC3T3-E1, Efcab2 was identified as an up-regulated gene in genistein-treated cells, enhancing osteoblastic cell differentiation [4]. In addition, Efcab2 was significantly associated with gemcitabine/carboplatin-induced leukopenia in non-small cell lung cancer patients [2].

In conclusion, Efcab2 is important for sperm-related functions and may play roles in bone differentiation and drug-induced leukopenia. Mouse models have been valuable in uncovering these functions, providing insights into biological processes and potential disease associations related to Efcab2.

References:

1. Shawki, Hossam H, Ishikawa-Yamauchi, Yu, Kawashima, Akihiro, Takahashi, Satoru, Oishi, Hisashi. 2019. EFCAB2 is a novel calcium-binding protein in mouse testis and sperm. In PloS one, 14, e0214687. doi:10.1371/journal.pone.0214687. https://pubmed.ncbi.nlm.nih.gov/30933994/

2. Svedberg, Anna, Björn, Niclas, Sigurgeirsson, Benjamín, Lundeberg, Joakim, Gréen, Henrik. 2020. Genetic association of gemcitabine/carboplatin-induced leukopenia and neutropenia in non-small cell lung cancer patients using whole-exome sequencing. In Lung cancer (Amsterdam, Netherlands), 147, 106-114. doi:10.1016/j.lungcan.2020.07.005. https://pubmed.ncbi.nlm.nih.gov/32683206/

3. Mohan, Subburaman, Hu, Yan, Edderkaoui, Bouchra. 2012. Identification of gender-specific candidate genes that influence bone microarchitecture in chromosome 1. In Calcified tissue international, 92, 362-71. doi:10.1007/s00223-012-9687-1. https://pubmed.ncbi.nlm.nih.gov/23263656/

4. Kim, Myungsuk, Lim, Jisun, Lee, Jung-Hee, Nho, Chu Won, Cho, Yoon Shin. 2018. Understanding the functional role of genistein in the bone differentiation in mouse osteoblastic cell line MC3T3-E1 by RNA-seq analysis. In Scientific reports, 8, 3257. doi:10.1038/s41598-018-21601-9. https://pubmed.ncbi.nlm.nih.gov/29459627/