APC2
Description
The APC2 (APC regulator of WNT signaling pathway 2) is a protein-coding gene located on chromosome 19.
Adenomatous polyposis coli (APC) protein 2, also known as deleted in polyposis 2.5 (DP2.5), is a protein that in humans is encoded by the APC2 gene. APC2 is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. Mutations in the APC2 gene may result in colorectal cancer and desmoid tumors. APC2 is classified as a tumor suppressor gene. Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors. The protein made by the APC2 gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor. The APC2 protein helps control how often a cell divides, how it attaches to other cells within a tissue, how the cell polarizes and the morphogenesis of the 3D structures, or whether a cell moves within or away from tissue. This protein also helps ensure that the chromosome number in cells produced through cell division is correct. The APC2 protein accomplishes these tasks mainly through association with other proteins, especially those that are involved in cell attachment and signaling. The activity of one protein in particular, beta-catenin, is controlled by the APC2 protein (see: Wnt signaling pathway).
APC2 stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases. It may also function in Wnt signaling by promoting the rapid degradation of CTNNB1.
APC2 is also known as APCL, MRT74.
Associated Diseases
- Sotos syndrome
- Cortical dysplasia, complex, with other brain malformations 10
- Intellectual developmental disorder, autosomal recessive 74
