hERG

Potassium voltage-gated channel, subfamily H (eag-related), member 2
Potassium voltage-gated channel, subfamily H (eag-related), member 2
	PDB rendering of the N-terminal domain based on 1byw. This domain is just a very small piece of the total channel.
有效结构
PDB	直系同源检索：PDBe, RCSB
PDB查询代码列表
	1BYW, 1UJL, 2L0W, 2L1M, 2L4R, 2LE7, 4HP9, 4HQA
标识
代号	KCNH2; ERG1; HERG; HERG1; Kv11.1; LQT2; SQT1
扩展标识	遗传学：152427 鼠基因：1341722 同源基因：201 IUPHAR: Kv11.1 ChEMBL: 240 GeneCards: KCNH2 Gene
基因本体论描述
分子功能	· phosphorelay sensor kinase activity; · inward rectifier potassium channel activity; · voltage-gated potassium channel activity; · delayed rectifier potassium channel activity; · protein binding; · ubiquitin protein ligase binding; · identical protein binding; · protein homodimerization activity; · voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;
细胞成分	· nuclear envelope; · cytoplasm; · plasma membrane; · voltage-gated potassium channel complex; · cell surface;
生物过程	· phosphorelay signal transduction system; · regulation of heart rate by hormone; · synaptic transmission; · signal transduction by phosphorylation; · cellular response to drug; · regulation of membrane potential; · potassium ion homeostasis; · cardiac muscle contraction; · regulation of membrane repolarization; · regulation of ventricular cardiac muscle cell membrane repolarization; · potassium ion export; · potassium ion transmembrane transport; · ventricular cardiac muscle cell action potential; · membrane depolarization during action potential; · membrane repolarization during action potential; · membrane repolarization during cardiac muscle cell action potential; · regulation of heart rate by cardiac conduction; · regulation of potassium ion transmembrane transport; · negative regulation of potassium ion transmembrane transport; · positive regulation of potassium ion transmembrane transport; · negative regulation of potassium ion export;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	3757
Ensembl	ENSG00000055118
UniProt	Q12809
mRNA序列	NM_000238
蛋白序列	NP_000229
基因位置	Chr 7:; 150.64 – 150.68 Mb
PubMed查询	[1]
	查; 论; 编;

hERG (the human Ether-à-go-go-Related Gene)，人延迟整流钾离子通道基因，是指基因KCNH2。该基因编码的蛋白质被称为 K_v11.1，是钾离子通道(英語：potassium ion channel)的α亚基（英語：alpha subunit）。该基因编码的钾离子通道（有时简单地使用'hERG'表示）最为著名的是其对心脏的电位活性，可协调心跳（即，hERG通道介导在心脏动作电位中延迟整流钾电流--I_Kr的复极化）。当这个通道介导电流通过细胞膜的能力受到抑制或妥协让步时，不论是由于药物的作用还是某些家族的基因突变引发，^[1]，都会导致潜在的致命疾病——QT间期延长综合症。若干临床上成功的上市药物有抑制hERG的趋势，导致其在使用过程中也伴随着猝死的药物不良反应风险。因此，在药物研发过程中要尽量避免药物对抗靶标(英語：antitarget)的hERG抑制。^[2] hERG还跟神经系统的某些细胞功能的调节^[3] 以及白血病细胞癌症特性的建立和维持^[4]有关。

命名

1994年4月，威斯康星大学麦迪逊分校的杰夫（英語：Jeff Warmke)和巴里（英語：Barry Ganetzky）在论文中首次命名和描述了hERG基因。^[5] hERG基因是首次发现于果蝇的Ether-à-go-go基因的人类同源类似物。 Ether-à-go-go基因由现在任职于希望城国家医学中心（英語：City of Hope National Medical Center）的威廉·d·卡普兰在1960年代命名。当使用乙醚麻醉拥有 Ether-à-go-go基因突变的苍蝇时，它们的腿就开始颤抖，就像当时流行于加利福尼亚西好莱坞的威士忌摇摆舞（英語：Whisky A Go-Go）夜总会的舞蹈。

Interactions

HERG和 YWHAE之间存在相互作用。^[6]

生物功能

参考文献

^ Hedley PL; Jorgensen P; Schlamowitz S; Wangari, Romilda; et al. The genetic basis of long QT and short QT syndromes: a mutation update. Human Mutation. 2009, 30 (11): 1486–511. PMID 19862833. doi:10.1002/humu.21106.
^ Sanguinetti MC, Tristani-Firouzi M. hERG potassium channels and cardiac arrhythmia. Nature. March 2006, 440 (7083): 463–9. PMID 16554806. doi:10.1038/nature04710.
^ Chiesa N, Rosati B, Arcangeli A, Olivotto M, Wanke E. A novel role for HERG K+ channels: spike-frequency adaptation. J. Physiol. (Lond.). June 1997,. 501 ( Pt 2) (2): 313–8. PMC 1159479  . PMID 9192303. doi:10.1111/j.1469-7793.1997.313bn.x. Overholt JL, Ficker E, Yang T, Shams H, Bright GR, Prabhakar NR. Chemosensing at the carotid body. Involvement of a HERG-like potassium current in glomus cells. Adv. Exp. Med. Biol. 2000, 475: 241–8. PMID 10849664. doi:10.1007/0-306-46825-5_22.
^ Arcangeli A. Expression and role of hERG channels in cancer cells. Novartis Found. Symp. 2005, 266: 225–32; discussion 232–4. PMID 16050271. doi:10.1002/047002142X.ch17.
^ Warmke JW, Ganetzky B. A family of potassium channel genes related to eag in Drosophila and mammals. Proc. Natl. Acad. Sci. U.S.A. April 1994, 91 (8): 3438–42 [2015-02-09]. PMC 43592  . PMID 8159766. doi:10.1073/pnas.91.8.3438. （原始内容存档于2019-10-17）.
^ Kagan, Anna; Melman Yonathan F; Krumerman Andrew; McDonald Thomas V. 14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity. EMBO J. (England). Apr 2002, 21 (8): 1889–98. ISSN 0261-4189. PMC 125975  . PMID 11953308. doi:10.1093/emboj/21.8.1889.

[Hedley-1] Hedley PL; Jorgensen P; Schlamowitz S; Wangari, Romilda; et al. The genetic basis of long QT and short QT syndromes: a mutation update. Human Mutation. 2009, 30 (11): 1486–511. PMID 19862833. doi:10.1002/humu.21106.

[Sanguinetti_MC,_Tristani-Firouzi_M_2006_463–9-2] Sanguinetti MC, Tristani-Firouzi M. hERG potassium channels and cardiac arrhythmia. Nature. March 2006, 440 (7083): 463–9. PMID 16554806. doi:10.1038/nature04710.

[3] Chiesa N, Rosati B, Arcangeli A, Olivotto M, Wanke E. A novel role for HERG K+ channels: spike-frequency adaptation. J. Physiol. (Lond.). June 1997,. 501 ( Pt 2) (2): 313–8. PMC 1159479  . PMID 9192303. doi:10.1111/j.1469-7793.1997.313bn.x. Overholt JL, Ficker E, Yang T, Shams H, Bright GR, Prabhakar NR. Chemosensing at the carotid body. Involvement of a HERG-like potassium current in glomus cells. Adv. Exp. Med. Biol. 2000, 475: 241–8. PMID 10849664. doi:10.1007/0-306-46825-5_22.

[4] Arcangeli A. Expression and role of hERG channels in cancer cells. Novartis Found. Symp. 2005, 266: 225–32; discussion 232–4. PMID 16050271. doi:10.1002/047002142X.ch17.

[5] Warmke JW, Ganetzky B. A family of potassium channel genes related to eag in Drosophila and mammals. Proc. Natl. Acad. Sci. U.S.A. April 1994, 91 (8): 3438–42 [2015-02-09]. PMC 43592  . PMID 8159766. doi:10.1073/pnas.91.8.3438. （原始内容存档于2019-10-17）.

[pmid11953308-6] Kagan, Anna; Melman Yonathan F; Krumerman Andrew; McDonald Thomas V. 14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity. EMBO J. (England). Apr 2002, 21 (8): 1889–98. ISSN 0261-4189. PMC 125975  . PMID 11953308. doi:10.1093/emboj/21.8.1889.

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