Inward rectifier potassium channel 2
The KCNJ2 gene encodes a potassium channel that is involved in cardiac conduction. Mutations cause autosomal dominant short-QT syndrome 3.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Doyle DA et al. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity.
|
2. |
Luo X et al. (2013) MicroRNA-26 governs profibrillatory inward-rectifier potassium current changes in atrial fibrillation.
|
3. |
Epshtein Y et al. (2009) Identification of a C-terminus domain critical for the sensitivity of Kir2.1 to cholesterol.
|
4. |
Rodríguez-Menchaca AA et al. (2008) The molecular basis of chloroquine block of the inward rectifier Kir2.1 channel.
|
5. |
Bendahhou S et al. (2007) Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
|
6. |
Choi BO et al. (2007) Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
|
7. |
Lu CW et al. (2006) Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
|
8. |
Davies NP et al. (2005) Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
|
9. |
Xia M et al. (2005) A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.
|
10. |
Donaldson MR et al. (2003) PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
|
11. |
Miake J et al. (2002) Biological pacemaker created by gene transfer.
|
12. |
Tristani-Firouzi M et al. (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
|
13. |
Andelfinger G et al. (2002) KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
|
14. |
Preisig-Müller R et al. (2002) Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.
|
15. |
Pham TV et al. (2002) Sex, hormones, and repolarization.
|
16. |
Wolbrette D et al. (2002) Gender differences in arrhythmias.
|
17. |
Plaster NM et al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
|
18. |
Derst C et al. (2001) Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.
|
19. |
Raab-Graham KF et al. (1994) Molecular cloning and expression of a human heart inward rectifier potassium channel.
|
20. |
Kubo Y et al. (1993) Primary structure and functional expression of a mouse inward rectifier potassium channel.
|
21. |
Priori SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.
|
22. |
Lopes CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
|
23. |
Lu Z et al. (2001) Ion conduction pore is conserved among potassium channels.
|
24. |
NCBI article
NCBI 3759
|
25. |
OMIM.ORG article
Omim 600681
|
26. |
Orphanet article
Orphanet ID 122791
|
27. |
Wikipedia article
Wikipedia EN (Kir2.1)
|
Update: Aug. 14, 2020