Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Dean Liu + 575 word(s) 575 2020-12-15 07:58:09

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. KCNJ2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4290 (accessed on 28 September 2026).
Liu D. KCNJ2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4290. Accessed September 28, 2026.
Liu, Dean. "KCNJ2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4290 (accessed September 28, 2026).
Liu, D. (2020, December 23). KCNJ2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4290
Liu, Dean. "KCNJ2 Gene." Encyclopedia. Web. 23 December, 2020.
KCNJ2 Gene
Edit

Potassium voltage-gated channel subfamily J member 2

genes

References

  1. Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ.Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.J Biol Chem. 2003 Dec 19;278(51):51779-85.
  2. Casini S, Postma AV. Decreased inward rectification of Kir2.1 channels is anovel mechanism underlying the short QT syndrome. Cardiovasc Res. 2012 Mar15;93(4):535-6. doi: 10.1093/cvr/cvs084.
  3. Chun TU, Epstein MR, Dick M 2nd, Andelfinger G, Ballester L, Vanoye CG, GeorgeAL Jr, Benson DW. Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm. 2004 Jul;1(2):235-41.
  4. Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T,Escolar DM, Fu YH, Ptácek LJ. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 Jun 10;60(11):1811-6.
  5. Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T. A novel gain-of-function KCNJ2mutation associated with short-QT syndrome impairs inward rectification of Kir2.1currents. Cardiovasc Res. 2012 Mar 15;93(4):666-73. doi: 10.1093/cvr/cvr329.
  6. Kimura H, Zhou J, Kawamura M, Itoh H, Mizusawa Y, Ding WG, Wu J, Ohno S,Makiyama T, Miyamoto A, Naiki N, Wang Q, Xie Y, Suzuki T, Tateno S, Nakamura Y,Zang WJ, Ito M, Matsuura H, Horie M. Phenotype variability in patients carryingKCNJ2 mutations. Circ Cardiovasc Genet. 2012 Jun;5(3):344-53. doi:10.1161/CIRCGENETICS.111.962316.
  7. Nguyen HL, Pieper GH, Wilders R. Andersen-Tawil syndrome: clinical andmolecular aspects. Int J Cardiol. 2013 Dec 5;170(1):1-16. Review.
  8. Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A,Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr,Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH,Ptácek LJ. Mutations in Kir2.1 cause the developmental and episodic electricalphenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9.
  9. Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A,Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-BadialeM, Jalife J. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005 Apr 15;96(7):800-7.
  10. Schulze-Bahr E. Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1channel dysfunction. Circ Res. 2005 Apr 15;96(7):703-4.
  11. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A,Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R.Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug;110(3):381-8.
  12. Veerapandiyan A, Statland JM, Tawil R. Andersen-Tawil Syndrome. 2004 Nov 22[updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1264/
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
View Times: 773
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service