Long Qt Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LNG047 MIFTS: 49	Long Qt Syndrome 2 Categories: Genetic diseases, Rare diseases, Cardiovascular diseases
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Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lqt2 ⁵⁷ ¹² ⁵³ ⁷⁵

Long Qt Syndrome 2, Acquired, Susceptibility to ⁵⁷ ⁶

Long Qt Syndrome 2/5 ⁷⁵ ⁶

Long Qt Syndrome, Acquired, Reduced Susceptibility to ⁵⁷

Susceptibility to Acquired Long Qt Syndrome 2 ⁷⁵

Long Qt Syndrome, Acquired, Reduced ⁵⁷

Long Qt Syndrome 2, Acquired ⁵⁷

Qt Syndrome, Long, Type 12 ⁴⁰

Qt Syndrome, Long, Type 2 ⁴⁰

Long Qt Syndrome Type 2 ⁷⁶

Long Qt Syndrome 1/2 ⁷⁵

Long Qt Syndrome 2/3 ⁷⁵

Long Qt Syndrome 2/9 ⁷⁵

Long Qt Syndrome 1-2 ⁷³

Long Qt Syndrome 2-3 ⁷³

Long Qt Syndrome 2-5 ⁷³

Long Qt Syndrome 9 ⁷³

Long Qt Syndrome-2 ¹³

Lqt1/2 ⁷⁵

Lqt2/3 ⁷⁵

Lqt2/5 ⁷⁵

Lqt2/9 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration

HPO:

³²

long qt syndrome 2:
Inheritance autosomal dominant inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 613688

Disease Ontology ¹² DOID:0110645

ICD10 ³³ I45.8

MedGen ⁴² C3150943 C1859063 C3150944 more

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C3150943 C3501853 C3501852 more

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Summaries for Long Qt Syndrome 2

OMIM : ⁵⁷ Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613688)

MalaCards based summary : Long Qt Syndrome 2, also known as lqt2, is related to long qt syndrome 9 and long qt syndrome 5, and has symptoms including syncope An important gene associated with Long Qt Syndrome 2 is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, and related phenotypes are syncope and sudden cardiac death

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

UniProtKB/Swiss-Prot : ⁷⁵ Long QT syndrome 2: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.

Wikipedia : ⁷⁶ Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. This... more...

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Related Diseases for Long Qt Syndrome 2

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15

Diseases related to Long Qt Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 9	30.6	CAV3 KCNJ2 SCN5A SNTA1 SSUH2
2	long qt syndrome 5	27.9	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
3	long qt syndrome	24.2	AKAP9 ALG10 ANK2 CAV3 KCNE1 KCNE2
4	long qt syndrome 13	10.3	KCNH2 KCNQ1 SCN5A
5	timothy syndrome	10.2	KCNE1 KCNH2 KCNQ1
6	creatine phosphokinase, elevated serum	10.2	CAV3 SSUH2
7	brugada syndrome 1	10.1	AKAP9 KCNH2 SCN5A
8	rippling muscle disease 2	10.1	CAV3 SSUH2
9	familial short qt syndrome	9.9	KCNH2 KCNJ2 KCNQ1
10	cardiac arrest	9.8	KCNQ1 RYR2 SCN5A
11	muscle disorders	9.8	CAV3 RYR2
12	cardiac conduction defect	9.7	KCNH2 KCNQ1 RYR2 SCN5A
13	sick sinus syndrome	9.7	SCN5A SNTA1
14	syncope	9.6	KCNH2 KCNJ2 KCNQ1 SCN5A
15	arrhythmogenic right ventricular cardiomyopathy	9.5	ANK2 KCNH2 RYR2 SCN5A
16	atrioventricular block	9.4	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17	left ventricular noncompaction	9.3	KCNQ1 RYR2 SCN5A SNTA1
18	long qt syndrome 3	9.1	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19	jervell and lange-nielsen syndrome 1	9.1	CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20	andersen cardiodysrhythmic periodic paralysis	9.1	KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
21	heart conduction disease	9.0	KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
22	short qt syndrome	9.0	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23	catecholaminergic polymorphic ventricular tachycardia	9.0	ANK2 KCNH2 KCNJ2 RYR2 SCN5A
24	long qt syndrome 12	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
25	ventricular fibrillation, paroxysmal familial, 1	8.9	KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
26	sudden infant death syndrome	8.8	CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
27	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	8.7	ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
28	familial atrial fibrillation	8.7	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
29	heart disease	8.3	KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
30	intrinsic cardiomyopathy	8.1	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
31	cardiac arrhythmia	7.8	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32	long qt syndrome 6	7.8	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33	atrial fibrillation	7.7	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34	brugada syndrome	7.7	AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
35	long qt syndrome 1	5.4	AKAP9 ANK2 CAV3 CD2AP KCNE1 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 2:

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Symptoms & Phenotypes for Long Qt Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
prolonged qt interval on ekg
syncope
sudden cardiac death
ventricular fibrillation
torsade de pointes

Clinical features from OMIM:

613688

Human phenotypes related to Long Qt Syndrome 2:

³²

#	Description	HPO Source Accession
1	syncope ³²	HP:0001279
2	sudden cardiac death ³²	HP:0001645
3	prolonged qt interval ³²	HP:0001657
4	ventricular fibrillation ³²	HP:0001663
5	torsade de pointes ³²	HP:0001664

UMLS symptoms related to Long Qt Syndrome 2:

syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.76	KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A ALG10
2	homeostasis/metabolism	MP:0005376	9.61	ALG10 CAV3 CD2AP KCNE2 KCNH2 KCNJ2
3	muscle	MP:0005369	9.17	CAV3 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A

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Drugs & Therapeutics for Long Qt Syndrome 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome	Completed	NCT02365506	Phase 1	Eleclazine;Placebo

Search NIH Clinical Center for Long Qt Syndrome 2

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Genetic Tests for Long Qt Syndrome 2

Genetic tests related to Long Qt Syndrome 2:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 2 ²⁹	ALG10 KCNH2

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Anatomical Context for Long Qt Syndrome 2

MalaCards organs/tissues related to Long Qt Syndrome 2:

⁴¹

Heart

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Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

#	Title	Authors	Year
1	NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2. ( 28741726 )	Huo J....Ma A.	2017
2	Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes. ( 24623279 )	Mehta A....Shim W.	2014
3	Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. ( 22314138 )	Aidery P....Thomas D.	2012
4	Automated perioperative QT monitoring in a patient with long QT syndrome 2. ( 20952434 )	Anton D....Friederich P.	2010
5	A common antitussive drug, clobutinol, precipitates the long QT syndrome 2. ( 15280442 )	Bellocq C....BarA^ I.	2004

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Genes for Long Qt Syndrome 2

Genes related to Long Qt Syndrome 2 (3 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	1426.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	8635257 20301308 23788249 (more) 25356965 27854360 21810866 7889573 10735633 12021266 12354768 12621127 9600240 10973849 16922724 15051636 10220144 18551196 16361248 9024139 9694858 15760896 8995352 8914737 10753933 10086971 10996323 19070294 21240260 15840476 17060380
2	ALG10	ALG10, Alpha-1,2-Glucosyltransferase	Protein Coding	682.56	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Variants (show sections)	15280551 20301308 23788249 (more) 25356965 27854360 21810866
3	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	426.11	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301308 23788249 25356965 (more) 27854360 21810866
4	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	26.23	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	24.95	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	ANK2	Ankyrin 2	Protein Coding	24.81	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	CAV3	Caveolin 3	Protein Coding	20.82	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
8	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	17.6	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SSUH2	Ssu-2 Homolog (C. Elegans)	Protein Coding	17.56	GeneCards inferred via : Variants (show sections)
10	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	17.56	GeneCards inferred via : Variants (show sections)
11	SNTA1	Syntrophin Alpha 1	Protein Coding	17.56	GeneCards inferred via : Variants (show sections)
12	KCNJ2	Potassium Voltage-Gated Channel Subfamily J Member 2	Protein Coding	15.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	CD2AP	CD2 Associated Protein	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	RYR2	Ryanodine Receptor 2	Protein Coding	15.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Long Qt Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 2:

⁷⁵ (show top 50) (show all 116)

#	Symbol	AA change	Variation ID	SNP ID
1	KCNH2	p.Asn470Asp	VAR_008578	rs121912505
2	KCNH2	p.Arg534Cys	VAR_008579	rs199472916
3	KCNH2	p.Ala561Val	VAR_008580	rs121912504
4	KCNH2	p.Arg582Cys	VAR_008581	rs121912508
5	KCNH2	p.Ile593Arg	VAR_008582	rs28928904
6	KCNH2	p.Gly628Ser	VAR_008583	rs121912507
7	KCNH2	p.Val822Met	VAR_008584	rs121912506
8	KCNH2	p.Phe29Leu	VAR_008907	rs199472830
9	KCNH2	p.Asn33Thr	VAR_008908	rs199473487
10	KCNH2	p.Gly53Arg	VAR_008909	rs199472842
11	KCNH2	p.Arg56Gln	VAR_008910	rs199472845
12	KCNH2	p.Cys66Gly	VAR_008911	rs199473416
13	KCNH2	p.His70Arg	VAR_008912	rs199473419
14	KCNH2	p.Ala78Pro	VAR_008913	rs199472848
15	KCNH2	p.Leu86Arg	VAR_008914	rs199472851
16	KCNH2	p.Arg176Trp	VAR_008915	rs36210422
17	KCNH2	p.Thr436Met	VAR_008916	rs199472901
18	KCNH2	p.Thr474Ile	VAR_008917	rs199472906
19	KCNH2	p.Leu552Ser	VAR_008918	rs199472918
20	KCNH2	p.Ala558Pro	VAR_008919	rs121912516
21	KCNH2	p.Leu564Pro	VAR_008920	rs199472924
22	KCNH2	p.Tyr569His	VAR_008921	rs199473520
23	KCNH2	p.Gly572Arg	VAR_008922	rs9333649
24	KCNH2	p.Gly572Cys	VAR_008923	rs9333649
25	KCNH2	p.Gly584Ser	VAR_008924	rs199473428
26	KCNH2	p.Asn588Asp	VAR_008925	rs199473431
27	KCNH2	p.Gly601Ser	VAR_008926	rs199472936
28	KCNH2	p.Gly604Ser	VAR_008927	rs199473522
29	KCNH2	p.Tyr611His	VAR_008928	rs199472942
30	KCNH2	p.Val612Leu	VAR_008929	rs199472943
31	KCNH2	p.Thr613Met	VAR_008930	rs199473524
32	KCNH2	p.Ala614Val	VAR_008931	rs199472944
33	KCNH2	p.Asn629Asp	VAR_008932	rs199472956
34	KCNH2	p.Asn629Lys	VAR_008933	rs41307295
35	KCNH2	p.Val630Leu	VAR_008934	rs199472958
36	KCNH2	p.Val630Ala	VAR_008935	rs199473526
37	KCNH2	p.Asn633Ser	VAR_008936	rs199472961
38	KCNH2	p.Phe640Leu	VAR_008937	rs199472970
39	KCNH2	p.Ser818Leu	VAR_008938	rs121912510
40	KCNH2	p.Asn629Ser	VAR_009179	rs199472957
41	KCNH2	p.Gly47Val	VAR_009909	rs199473490
42	KCNH2	p.Pro347Ser	VAR_009912	rs138776684
43	KCNH2	p.Arg531Gln	VAR_009913	rs199473515
44	KCNH2	p.Ile593Thr	VAR_009915	rs28928904
45	KCNH2	p.Asp609Asn	VAR_009916	rs199472941
46	KCNH2	p.Thr65Pro	VAR_014371	rs121912511
47	KCNH2	p.Pro451Leu	VAR_014373	rs199472902
48	KCNH2	p.Ala561Thr	VAR_014374	rs199472921
49	KCNH2	p.Leu615Val	VAR_014375	rs199472945
50	KCNH2	p.Gly626Ser	VAR_014376	rs199472953

ClinVar genetic disease variations for Long Qt Syndrome 2:

⁶

(show top 50) (show all 135)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNQ1	NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=)	single nucleotide variant	Pathogenic	rs1800171	GRCh37	Chromosome 11, 2604775: 2604775
2	KCNQ1	NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=)	single nucleotide variant	Pathogenic	rs1800171	GRCh38	Chromosome 11, 2583545: 2583545
3	ALG10	NM_032834.3(ALG10): c.1339G> A (p.Val447Ile)	single nucleotide variant	risk factor	rs121908850	GRCh37	Chromosome 12, 34179767: 34179767
4	ALG10	NM_032834.3(ALG10): c.1339G> A (p.Val447Ile)	single nucleotide variant	risk factor	rs121908850	GRCh38	Chromosome 12, 34026832: 34026832
5	KCNH2	NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912504	GRCh37	Chromosome 7, 150648799: 150648799
6	KCNH2	NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912504	GRCh38	Chromosome 7, 150951711: 150951711
7	KCNH2	NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp)	single nucleotide variant	Pathogenic	rs121912505	GRCh37	Chromosome 7, 150649662: 150649662
8	KCNH2	NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp)	single nucleotide variant	Pathogenic	rs121912505	GRCh38	Chromosome 7, 150952574: 150952574
9	KCNH2	NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg)	single nucleotide variant	Pathogenic	rs28928904	GRCh37	Chromosome 7, 150648703: 150648703
10	KCNH2	NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg)	single nucleotide variant	Pathogenic	rs28928904	GRCh38	Chromosome 7, 150951615: 150951615
11	KCNH2	NM_000238.3(KCNH2): c.2464G> A (p.Val822Met)	single nucleotide variant	Pathogenic	rs121912506	GRCh37	Chromosome 7, 150646072: 150646072
12	KCNH2	NM_000238.3(KCNH2): c.2464G> A (p.Val822Met)	single nucleotide variant	Pathogenic	rs121912506	GRCh38	Chromosome 7, 150948984: 150948984
13	KCNH2	NM_000238.3(KCNH2): c.1497_1523del27 (p.Ile500_Phe508del)	deletion	Pathogenic		GRCh37	Chromosome 7, 150649547: 150649573
14	KCNH2	NM_000238.3(KCNH2): c.1497_1523del27 (p.Ile500_Phe508del)	deletion	Pathogenic		GRCh38	Chromosome 7, 150952459: 150952485
15	KCNH2	NM_172057.2(KCNH2): c.241delA (p.Thr81Argfs)	deletion	Pathogenic		GRCh37	Chromosome 7, 150649809: 150649809
16	KCNH2	NM_172057.2(KCNH2): c.241delA (p.Thr81Argfs)	deletion	Pathogenic		GRCh38	Chromosome 7, 150952721: 150952721
17	KCNH2	NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser)	single nucleotide variant	Pathogenic	rs121912507	GRCh37	Chromosome 7, 150648599: 150648599
18	KCNH2	NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser)	single nucleotide variant	Pathogenic	rs121912507	GRCh38	Chromosome 7, 150951511: 150951511
19	KCNH2	NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys)	single nucleotide variant	Pathogenic	rs121912508	GRCh37	Chromosome 7, 150648737: 150648737
20	KCNH2	NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys)	single nucleotide variant	Pathogenic	rs121912508	GRCh38	Chromosome 7, 150951649: 150951649
21	KCNH2	NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg)	single nucleotide variant	Pathogenic	rs9333649	GRCh37	Chromosome 7, 150648767: 150648767
22	KCNH2	NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg)	single nucleotide variant	Pathogenic	rs9333649	GRCh38	Chromosome 7, 150951679: 150951679
23	KCNH2	NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter)	single nucleotide variant	Pathogenic	rs121912509	GRCh37	Chromosome 7, 150644565: 150644565
24	KCNH2	NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter)	single nucleotide variant	Pathogenic	rs121912509	GRCh38	Chromosome 7, 150947477: 150947477
25	KCNH2	NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu)	single nucleotide variant	Pathogenic	rs121912510	GRCh37	Chromosome 7, 150646083: 150646083
26	KCNH2	NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu)	single nucleotide variant	Pathogenic	rs121912510	GRCh38	Chromosome 7, 150948995: 150948995
27	KCNH2	NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp)	single nucleotide variant	Likely pathogenic	rs12720441	GRCh37	Chromosome 7, 150647304: 150647304
28	KCNH2	NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp)	single nucleotide variant	Likely pathogenic	rs12720441	GRCh38	Chromosome 7, 150950216: 150950216
29	KCNH2	NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro)	single nucleotide variant	Pathogenic	rs121912511	GRCh37	Chromosome 7, 150671913: 150671913
30	KCNH2	NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro)	single nucleotide variant	Pathogenic	rs121912511	GRCh38	Chromosome 7, 150974825: 150974825
31	KCNH2	NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln)	single nucleotide variant	Likely pathogenic	rs121912512	GRCh37	Chromosome 7, 150647399: 150647399
32	KCNH2	NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln)	single nucleotide variant	Likely pathogenic	rs121912512	GRCh38	Chromosome 7, 150950311: 150950311
33	KCNH2	KCNH2, 1-BP INS, 2775G	insertion	Pathogenic
34	KCNH2	NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile)	single nucleotide variant	Pathogenic	rs121912513	GRCh37	Chromosome 7, 150645954: 150645954
35	KCNH2	NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile)	single nucleotide variant	Pathogenic	rs121912513	GRCh38	Chromosome 7, 150948866: 150948866
36	KCNH2	NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro)	single nucleotide variant	Pathogenic	rs121912516	GRCh37	Chromosome 7, 150648809: 150648809
37	KCNH2	NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro)	single nucleotide variant	Pathogenic	rs121912516	GRCh38	Chromosome 7, 150951721: 150951721
38	KCNH2	NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val)	single nucleotide variant	Pathogenic	rs199472944	GRCh37	Chromosome 7, 150648640: 150648640
39	KCNH2	NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val)	single nucleotide variant	Pathogenic	rs199472944	GRCh38	Chromosome 7, 150951552: 150951552
40	KCNH2	NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His)	single nucleotide variant	Pathogenic	rs199472942	GRCh37	Chromosome 7, 150648650: 150648650
41	KCNH2	NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His)	single nucleotide variant	Pathogenic	rs199472942	GRCh38	Chromosome 7, 150951562: 150951562
42	KCNH2	NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu)	single nucleotide variant	Likely pathogenic	rs199472902	GRCh37	Chromosome 7, 150649718: 150649718
43	KCNH2	NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu)	single nucleotide variant	Likely pathogenic	rs199472902	GRCh38	Chromosome 7, 150952630: 150952630
44	KCNH2	NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser)	single nucleotide variant	Pathogenic	rs199472918	GRCh37	Chromosome 7, 150648826: 150648826
45	KCNH2	NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser)	single nucleotide variant	Pathogenic	rs199472918	GRCh38	Chromosome 7, 150951738: 150951738
46	KCNH2	NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199473428	GRCh37	Chromosome 7, 150648731: 150648731
47	KCNH2	NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199473428	GRCh38	Chromosome 7, 150951643: 150951643
48	KCNH2	NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199472936	GRCh37	Chromosome 7, 150648680: 150648680
49	KCNH2	NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs199472936	GRCh38	Chromosome 7, 150951592: 150951592
50	KCNH2	NM_000238.3(KCNH2): c.1876G> A (p.Gly626Ser)	single nucleotide variant	Likely pathogenic	rs199472953	GRCh37	Chromosome 7, 150648605: 150648605

Sources

Expression for Long Qt Syndrome 2

Search GEO for disease gene expression data for Long Qt Syndrome 2.

Sources

Pathways for Long Qt Syndrome 2

Pathways related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.34	AKAP9 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2
2	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.15	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.85	CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
4	Salivary secretion ³⁷ Show member pathways Gastric acid secretion ³⁷	11.83	KCNE2 KCNJ2 KCNQ1
5	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.75	KCNH2 KCNJ2 KCNQ1
6	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.53	AKAP9 KCNE1 KCNE2 KCNQ1 SCN5A
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.97	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8	Interaction between L1 and Ankyrins ⁶⁶	10.93	ANK2 SCN5A
9	TarBasePathway ¹	10.82	KCNE1 KCNJ2 KCNQ1

Sources

GO Terms for Long Qt Syndrome 2

Cellular components related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	9.83	CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2	lysosome	GO:0005764	9.76	ANK2 KCNE1 KCNE2 KCNQ1
3	membrane raft	GO:0045121	9.71	ANK2 CAV3 KCNE1 KCNQ1
4	intercalated disc	GO:0014704	9.62	ANK2 CAV3 KCNJ2 SCN5A
5	T-tubule	GO:0030315	9.56	ANK2 CAV3 KCNJ2 SCN5A
6	Z disc	GO:0030018	9.55	ANK2 CAV3 KCNE1 RYR2 SCN5A
7	smooth endoplasmic reticulum	GO:0005790	9.48	KCNJ2 RYR2
8	sarcolemma	GO:0042383	9.35	ANK2 CAV3 RYR2 SCN5A SNTA1
9	voltage-gated potassium channel complex	GO:0008076	9.1	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
10	plasma membrane	GO:0005886	10.11	ANK2 CAV3 CD2AP KCNE1 KCNE2 KCNH2

Biological processes related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 50)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transport	GO:0006813	9.97	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2	potassium ion transmembrane transport	GO:0071805	9.95	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	cardiac conduction	GO:0061337	9.87	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4	cardiac muscle contraction	GO:0060048	9.86	KCNH2 KCNQ1 RYR2 SCN5A
5	cellular response to drug	GO:0035690	9.84	KCNE2 KCNH2 KCNQ1
6	cardiac muscle cell action potential involved in contraction	GO:0086002	9.83	KCNE1 KCNE2 KCNJ2 SCN5A
7	regulation of heart rate	GO:0002027	9.83	ANK2 CAV3 RYR2 SCN5A SNTA1
8	cellular response to cAMP	GO:0071320	9.81	AKAP9 KCNE1 KCNQ1
9	positive regulation of potassium ion transmembrane transport	GO:1901381	9.81	KCNE1 KCNH2 KCNJ2 KCNQ1
10	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.81	AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
11	membrane repolarization	GO:0086009	9.8	KCNE1 KCNE2 KCNH2 KCNQ1
12	regulation of cardiac muscle contraction	GO:0055117	9.78	ANK2 CAV3 RYR2
13	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.78	KCNE1 KCNH2 KCNJ2 KCNQ1
14	regulation of potassium ion transmembrane transport	GO:1901379	9.77	KCNE1 KCNE2 KCNH2
15	regulation of cardiac muscle cell contraction	GO:0086004	9.77	ANK2 KCNJ2 SCN5A
16	membrane repolarization during action potential	GO:0086011	9.77	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
17	potassium ion export	GO:0071435	9.76	KCNE1 KCNE2 KCNH2 KCNQ1
18	atrial cardiac muscle cell action potential	GO:0086014	9.75	ANK2 KCNQ1 SCN5A
19	regulation of membrane repolarization	GO:0060306	9.73	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20	potassium ion import	GO:0010107	9.71	KCNE2 KCNJ2
21	regulation of heart contraction	GO:0008016	9.71	CAV3 KCNQ1
22	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.71	KCNE1 KCNE2 KCNH2 KCNQ1
23	membrane depolarization during action potential	GO:0086010	9.7	KCNH2 SCN5A
24	regulation of calcium ion transport	GO:0051924	9.7	ANK2 CAV3
25	positive regulation of microtubule polymerization	GO:0031116	9.7	AKAP9 CAV3
26	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.7	ANK2 RYR2
27	positive regulation of heart rate	GO:0010460	9.69	KCNQ1 RYR2
28	cellular response to epinephrine stimulus	GO:0071872	9.69	KCNQ1 RYR2
29	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.69	KCNJ2 SCN5A
30	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.68	KCNE1 KCNE2
31	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.68	CAV3 SCN5A
32	negative regulation of potassium ion transmembrane transport	GO:1901380	9.68	CAV3 KCNH2
33	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.68	AKAP9 CAV3
34	regulation of cardiac muscle contraction by calcium ion signaling	GO:0010882	9.67	ANK2 RYR2
35	regulation of sodium ion transmembrane transport	GO:1902305	9.67	SCN5A SNTA1
36	regulation of delayed rectifier potassium channel activity	GO:1902259	9.67	KCNE1 KCNE2
37	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.66	KCNQ1 SCN5A
38	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.65	AKAP9 ANK2
39	SA node cell action potential	GO:0086015	9.65	ANK2 SCN5A
40	membrane depolarization during SA node cell action potential	GO:0086046	9.65	ANK2 SCN5A
41	sarcoplasmic reticulum calcium ion transport	GO:0070296	9.64	ANK2 RYR2
42	potassium ion export across plasma membrane	GO:0097623	9.63	KCNH2 KCNQ1
43	T-tubule organization	GO:0033292	9.63	ANK2 CAV3
44	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.62	ANK2 RYR2
45	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.62	ANK2 CAV3
46	regulation of SA node cell action potential	GO:0098907	9.61	ANK2 RYR2
47	ventricular cardiac muscle cell action potential	GO:0086005	9.61	ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
48	regulation of heart rate by cardiac conduction	GO:0086091	9.23	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
49	ion transport	GO:0006811	10.13	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
50	regulation of ion transmembrane transport	GO:0034765	10.01	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A

Molecular functions related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	enzyme binding	GO:0019899	9.85	ANK2 CAV3 RYR2 SCN5A
2	calmodulin binding	GO:0005516	9.81	KCNQ1 RYR2 SCN5A SNTA1
3	ion channel activity	GO:0005216	9.73	KCNH2 RYR2 SCN5A
4	potassium channel activity	GO:0005267	9.73	KCNE1 KCNE2 KCNH2 KCNQ1
5	voltage-gated ion channel activity	GO:0005244	9.72	KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6	voltage-gated potassium channel activity	GO:0005249	9.71	KCNE1 KCNE2 KCNH2 KCNQ1
7	scaffold protein binding	GO:0097110	9.7	KCNH2 KCNQ1 SCN5A
8	potassium channel regulator activity	GO:0015459	9.67	AKAP9 KCNE1 KCNE2
9	inward rectifier potassium channel activity	GO:0005242	9.65	KCNE2 KCNH2 KCNJ2
10	protein kinase A regulatory subunit binding	GO:0034237	9.63	AKAP9 KCNQ1 RYR2
11	sodium channel regulator activity	GO:0017080	9.57	CAV3 SNTA1
12	delayed rectifier potassium channel activity	GO:0005251	9.56	KCNE1 KCNE2 KCNH2 KCNQ1
13	protein kinase A catalytic subunit binding	GO:0034236	9.54	KCNQ1 RYR2
14	nitric-oxide synthase binding	GO:0050998	9.54	CAV3 SCN5A SNTA1
15	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.46	KCNE1 KCNE2 KCNH2 KCNQ1
16	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.26	KCNE1 KCNH2 KCNJ2 KCNQ1
17	ion channel binding	GO:0044325	9.23	AKAP9 ANK2 CAV3 KCNE2 KCNQ1 RYR2

Sources

Sources for Long Qt Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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²⁷ GEO DataSets

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³³ ICD10

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia