WWC2
Description
The WWC2 (WW and C2 domain containing 2) is a protein-coding gene located on chromosome 4.
WWC2 (WW and C2 domain containing 2) is a human protein encoded by the WWC2 gene located on chromosome 4 at band 4q35.1. While its exact function remains unknown, it is predicted to play a role in cancer. The WWC2 gene spans 8,822 base pairs, comprises 23 exons, and is found on the plus strand of the chromosome. Its locus is complex and appears to produce several proteins with no sequence overlap. The gene is also known as BH3-Only Member B (BOMB). WWC2 is highly conserved among various species, including mammals, birds, reptiles, amphibians, and even the coelacanth. It also shows conservation in some Actinopterygii, Gastropoda, and Bivalvia. WWC2 has two paralogs in humans: WWC1, located on chromosome 5, and WWC3, found on chromosome X. WWC1 is likely involved in regulating the Hippo signaling pathway, which plays a role in tumor suppression by restricting proliferation and promoting apoptosis. The function of WWC3 remains largely unknown.
WWC2 negatively regulates the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. It enhances the phosphorylation of LATS1 and YAP1, ultimately suppressing cell proliferation and organ growth by inhibiting the transcriptional activity of YAP1, the major effector of the Hippo pathway.
WWC2 is also known as BOMB.
Associated Diseases
- Gorham-Stout disease
- melorheostosis
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- spermatogenic failure 72
