ANXA2

Description

The ANXA2 (annexin A2) is a protein-coding gene located on chromosome 15.

Annexin A2, also known as annexin II, is a protein encoded by the ANXA2 gene in humans. It plays a role in various cellular processes, including cell motility, particularly of epithelial cells, linking membrane-associated protein complexes to the actin cytoskeleton, endocytosis, fibrinolysis, ion channel formation, and cell matrix interactions. Annexin A2 is a calcium-dependent phospholipid-binding protein that facilitates the organization of exocytosis, releasing intracellular proteins to the extracellular domain. This protein is pleiotropic, meaning its function is context-dependent. The ANXA2 gene, located on chromosome 15q22.2, has three pseudogenes on chromosomes 4, 9, and 10. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Annexin A2 is a member of the annexin family, known for their role in regulating cellular growth and signal transduction pathways. Annexin A2 acts as an autocrine factor, promoting osteoclast formation and bone resorption. Epigenetic regulation of Annexin A2 has been identified as a key factor in mesenchymal transformation in brain tumors.

Annexin A2 is a calcium-regulated membrane-binding protein with a high affinity for calcium, especially in the presence of anionic phospholipids. It binds two calcium ions with high affinity. Annexin A2 may be involved in the heat-stress response. It inhibits the degradation of low-density lipoprotein receptor (LDLR) by PCSK9, potentially by reducing PCSK9 protein levels through a translational mechanism, and also competes with LDLR for binding with PCSK9.

ANXA2 is also known as ANX2, ANX2L4, CAL1H, HEL-S-270, LIP2, LPC2, LPC2D, P36, PAP-IV.

Associated Diseases

WES Whole Exome Sequencing