PDZD2
Description
The PDZD2 (PDZ domain containing 2) is a protein-coding gene located on chromosome 5.
PDZD2 is a protein that contains six PDZ domains, which are known to bind to the C-termini of transmembrane receptors or ion channels. It shares sequence similarity with pro-interleukin-16 (pro-IL-16) and like pro-IL-16, it localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. This protein has been linked to intracellular signaling and is upregulated in primary prostate tumors, suggesting a potential role in the early stages of prostate tumorigenesis. PDZD2 has been shown to interact with PKP4.
PDZD2 is also known as AIPC, PAPIN, PDZK3, PIN1.
Associated Diseases
- type 2 diabetes mellitus
- hyperinsulinism due to glucokinase deficiency
- hyperinsulinism due to INSR deficiency
- exercise-induced hyperinsulinism
- type 1 diabetes mellitus
- diabetes mellitus, transient neonatal, 2
- hyperinsulinemic hypoglycemia, familial, 2
