KCNJ2
Encyclopedia
The Kir2.1 inward-rectifier potassium ion channel
is encoded by the gene.
.
A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome
.
with DLG4
, TRAK2
and Interleukin 16
.
Inward-rectifier potassium ion channel
Inwardly rectifying potassium channels are a specific subset of potassium selective ion channels. To date, seven subfamilies have been identified in various mammalian cell types...
is encoded by the gene.
Clinical significance
A defect in this gene is associated with Andersen-Tawil syndromeAndersen-Tawil syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern.- Presentation :...
.
A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome
Short QT syndrome
Short QT syndrome is a genetic disease of the electrical system of the heart. It consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart...
.
Interactions
Kir2.1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with DLG4
DLG4
PSD-95 also known as SAP-90 is a protein that in humans is encoded by the DLG4 gene....
, TRAK2
TRAK2
Trafficking kinesin-binding protein 2 is a protein that in humans is encoded by the TRAK2 gene.-Interactions:TRAK2 has been shown to interact with Kir2.1 and GABRB2.-Further reading:...
and Interleukin 16
Interleukin 16
Pro-interleukin-16 is a protein that in humans is encoded by the IL16 gene. This gene was discovered in 1982 at Boston University by Dr. David Center and Dr...
.