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The Kir2.1
inward-rectifier potassium channel Inward-rectifier potassium channels (Kir, IRK) are a specific lipid-gated subset of potassium channels. To date, seven subfamilies have been identified in various mammalian cell types, plants, and bacteria. They are activated by phosphatidylinos ...
is a lipid-gated ion channel encoded by the gene.


Clinical significance

A defect in this gene is associated with Andersen-Tawil syndrome. A mutation in the KCNJ2 gene has also been shown to cause
short QT syndrome Short QT syndrome (SQT) is a very rare genetic disease of the electrical system of the heart, and is associated with an increased risk of abnormal heart rhythms and sudden cardiac death. The syndrome gets its name from a characteristic feature s ...
.


In research

In neurogenetics, Kir2.1 is used in ''
Drosophila ''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species ...
'' research to inhibit neurons, as overexpression of this channel will hyperpolarize cells. In optogenetics, a trafficking sequence from Kir2.1 has been added to
halorhodopsin Halorhodopsin is a light-gated ion pump, specific for chloride ions, found in archaea, known as halobacteria. It is a seven-transmembrane retinylidene protein from microbial rhodopsin family. It is similar in tertiary structure (but not primary seq ...
to improve its membrane localization. The resulting protein eNpHR3.0 is used in optogenetic research to inhibit neurons with light. Expression of Kir2.1 gene in human HEK293 cells induce a transient outward current, creating a steady
membrane potential Membrane potential (also transmembrane potential or membrane voltage) is the difference in electric potential between the interior and the exterior of a biological cell. That is, there is a difference in the energy required for electric charges ...
close to the reversal potential of potassium.


Interactions

Kir2.1 has been shown to
interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with: * DLG4, *
Interleukin 16 Interleukin 16 is a pro-inflammatory pleiotropic cytokine. It's precursor, 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. William Cr ...
, and *
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 The Kir2.1 inward-rectifier potassium channel is a lipid-gated ion channel encoded ...


References


Further reading

* * * * * * * * * * * * * * * * * * * *


External links


GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome

OMIM entries on Anderson-Tawil syndrome
* * Ion channels {{membrane-protein-stub