POPDC2
Description
The POPDC2 (popeye domain containing 2) is a protein-coding gene located on chromosome 3.
POPDC2 is a gene that encodes a protein belonging to the POP family, characterized by three putative transmembrane domains. This membrane-associated protein is primarily expressed in skeletal and cardiac muscle. The Popeye domain, located in the protein's cytoplasmic region, shares limited sequence homology with other proteins, but Popeye proteins exhibit significant sequence conservation (40-60%). Functionally, POPDC2 shares similarities with bacterial CAP or CRP proteins, which act as cyclic nucleotide-regulated transcription factors. The Popeye domain binds cyclic nucleotides, particularly cAMP, with an affinity comparable to that of PKA and HCN4. The protein interacts with the two-pore potassium channel TREK-1.
POPDC2 is also known as POP2.
Associated Diseases
- Brugada syndrome
- familial atrial fibrillation
- familial sick sinus syndrome
- long QT syndrome 9
- long QT syndrome 15
- hypertrophic cardiomyopathy 6
- long QT syndrome 5
- sick sinus syndrome 2, autosomal dominant
- sick sinus syndrome 1
- sinoatrial node dysfunction and deafness
- arrhythmogenic right ventricular dysplasia 5
- His bundle tachycardia
- catecholaminergic polymorphic ventricular tachycardia 1
