The GIPC2 gene is located on chromosome 1p31.1 and consists of six exons . The protein encoded by this gene is composed of 315 amino acids and contains a central PDZ domain . This domain is crucial for the protein’s function, as it mediates interactions with other proteins. GIPC2 shares 62% amino acid identity with GIPC1, another member of the GIPC family, and 59.6% identity with Kermit, the Xenopus ortholog of GIPC1 .
GIPC2 is expressed in various tissues, with moderate expression levels detected in the adult human kidney, pancreas, liver, and spleen . It is also expressed throughout the gastrointestinal tract, from the stomach to the rectum, with higher expression levels in the ascending colon . The protein is located in extracellular exosomes, which are small vesicles released into the extracellular environment and play a role in cell-to-cell communication .
GIPC2 is involved in several cellular processes, primarily through its interactions with other proteins. One of its notable interactions is with the insulin-like growth factor 1 receptor (IGF1R), which plays a role in regulating growth and development . GIPC2 has been shown to interact with eukaryotic initiation factor 6 (EIF6), modulating its expression in a dose-dependent manner to regulate eye morphogenesis in Xenopus . This interaction highlights the importance of GIPC2 in developmental processes.
Mutations or dysregulation of the GIPC2 gene have been associated with certain diseases. For example, GIPC2 has been linked to pheochromocytoma, a type of tumor that arises from the adrenal gland . Understanding the role of GIPC2 in these diseases can provide insights into potential therapeutic targets and strategies.
Recombinant GIPC2 refers to the protein that has been genetically engineered and produced in a laboratory setting. This recombinant protein is used in various research applications to study its function, interactions, and potential therapeutic uses. By using recombinant GIPC2, researchers can gain a deeper understanding of its role in cellular processes and disease mechanisms.