ITPR2

Inositol 1,4,5-trisphosphate receptor type 2 (ITPR2) is a protein that in humans is encoded by the ITPR2 gene. This protein is an integral membrane protein and part of the inositol 1,4,5-trisphosphate receptor family, which plays a crucial role in intracellular calcium signaling.

Function

The ITPR2 gene encodes a receptor for inositol 1,4,5-trisphosphate (IP3), a molecule often involved in the transmission of intracellular signals. These receptors are found on the membrane of the endoplasmic reticulum (ER) and mediate the release of calcium ions from the ER when activated by IP3. Calcium ions, in turn, act as secondary messengers in various signaling pathways, influencing processes such as muscle contraction, neuronal activity, and cell growth.

Structure

The ITPR2 protein is characterized by its large size and complex structure, which includes multiple transmembrane domains, an IP3-binding domain, and a modulatory domain. This structure allows it to effectively bind IP3 and regulate calcium ion channels within the ER membrane.

Clinical Significance

Alterations in the ITPR2 gene have been associated with various diseases. Abnormalities in IP3 signaling, potentially due to mutations in the ITPR2 gene, can lead to disrupted calcium homeostasis, which has been implicated in conditions such as spinocerebellar ataxia and Gilles de la Tourette syndrome. Furthermore, the role of ITPR2 in calcium signaling makes it a potential target for therapeutic interventions in diseases characterized by abnormal calcium signaling.

Research

Research on ITPR2 has focused on understanding its role in calcium signaling pathways and its implications in disease. Studies have explored how mutations in the ITPR2 gene affect receptor function and contribute to disease pathogenesis. Additionally, there is interest in developing drugs that can modulate ITPR2 activity as a means to treat diseases associated with abnormal calcium signaling.

See Also

• Inositol 1,4,5-trisphosphate receptor
• Calcium signaling
• Endoplasmic reticulum