Tmem30b, also known as CDC50B, is a two-transmembrane-spanning protein that is predicted to be a component of phospholipid-translocators [5]. It has been associated with various biological processes and diseases.

In the context of odontoblastic differentiation and dentinogenesis, deletion of Creb3l1 in the Wnt1+ lineage led to insufficient root elongation and dentin deposition. Tmem30b was identified as a direct transcriptional regulatory target of CREB3L1. Deletion of Tmem30b in mouse dental papilla cells (mDPCs) impaired the ability of odontoblastic differentiation, protein synthesis, and protein secretion, while overexpressing TMEM30B in CREB3L1-deficient mDPCs partially rescued extracellular protein secretion [1].

In clear cell renal cell carcinoma (ccRCC), TMEM30B was among the most down-regulated genes on the mRNA level. Its down-regulation was more pronounced in advanced ccRCC tumors and was potentially linked to clinical parameters such as Fuhrman grade and overall survival. Mutations in TMEM30B were identified, and deletions in its locus were found in nearly 30% of the tumors. Overexpression studies suggested its potential role in carcinogenesis processes [2].

In newly diagnosed WHO grade 1 meningiomas, lower expression of TMEM30B was associated with local recurrence after gross total resection [3].

In epithelial ovarian cancer, TMEM30B was one of the differentially expressed genes between high-grade serous ovarian cancers and low malignant potential or serous borderline tumors, and its expression was significantly associated with worse overall survival in patients with high-grade serous ovarian cancers [4].

In conclusion, Tmem30b plays important roles in processes like odontoblastic differentiation and in diseases such as ccRCC, meningioma, and epithelial ovarian cancer. Studies using gene-deletion models, like the deletion of Tmem30b in mDPCs, have revealed its functions in specific biological processes and disease-related phenotypes, providing valuable insights into the underlying molecular mechanisms and potential therapeutic targets for these diseases [1,2,3,4].

References:

1. Li, Yuanyuan, Lin, Yuxiu, Guo, Jinqiang, Liu, Huan, Chen, Zhi. 2024. CREB3L1 deficiency impairs odontoblastic differentiation and molar dentin deposition partially through the TMEM30B. In International journal of oral science, 16, 59. doi:10.1038/s41368-024-00322-y. https://pubmed.ncbi.nlm.nih.gov/39384739/

2. Wesoly, Joanna, Pstrąg, Natalia, Derylo, Kamil, Kwias, Zbigniew, Bluyssen, Hans. 2023. Structural, topological, and functional characterization of transmembrane proteins TMEM213, 207, 116, 72 and 30B provides a potential link to ccRCC etiology. In American journal of cancer research, 13, 1863-1883. doi:. https://pubmed.ncbi.nlm.nih.gov/37293153/

3. Morshed, Ramin A, Nguyen, Minh P, Youngblood, Mark W, Chen, William C, Raleigh, David R. 2024. Gene Expression Changes Associated With Recurrence After Gross Total Resection of Newly Diagnosed World Health Organization Grade 1 Meningioma. In Neurosurgery, 96, 521-528. doi:10.1227/neu.0000000000003133. https://pubmed.ncbi.nlm.nih.gov/39101743/

4. Li, Yichao, Jaiswal, Sushil K, Kaur, Rupleen, Welch, Lonnie, Elnitski, Laura. 2021. Differential gene expression identifies a transcriptional regulatory network involving ER-alpha and PITX1 in invasive epithelial ovarian cancer. In BMC cancer, 21, 768. doi:10.1186/s12885-021-08276-8. https://pubmed.ncbi.nlm.nih.gov/34215221/

5. Katoh, Yuriko, Katoh, Masaru. . Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. In Oncology reports, 12, 939-43. doi:. https://pubmed.ncbi.nlm.nih.gov/15375526/