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LQT2
MCID: LNG047
MIFTS: 54

Long Qt Syndrome 2 (LQT2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Long Qt Syndrome 2

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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
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
genetic heterogeneity (see lqt1 )


HPO:

32
long qt syndrome 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Long Qt Syndrome 2

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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 3, 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 Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and prolonged qt interval

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...

Sources

Related Diseases for Long Qt Syndrome 2

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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 40)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 31.9 CAV3 KCNJ2 SCN5A SNTA1 SSUH2
2 long qt syndrome 3 30.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 syncope 29.9 KCNH2 KCNJ2 KCNQ1 SCN5A
4 long qt syndrome 5 28.6 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
5 long qt syndrome 28.3 AKAP9 ALG10 ANK2 CAV3 KCNE1 KCNE2
6 long qt syndrome 13 10.1 KCNH2 KCNQ1 SCN5A
7 rippling muscle disease 2 10.1 CAV3 SSUH2
8 timothy syndrome 10.1 KCNE1 KCNH2 KCNQ1
9 third-degree atrioventricular block 10.1 KCNE2 SCN5A
10 brugada syndrome 1 10.0 AKAP9 KCNH2 SCN5A
11 benign neonatal seizures 10.0 KCNE2 KCNQ1
12 familial short qt syndrome 10.0 KCNH2 KCNJ2 KCNQ1
13 epilepsy 9.9
14 ischemia 9.9
15 muscle disorders 9.9 CAV3 RYR2
16 atrioventricular block 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 cardiac conduction defect 9.8 KCNH2 KCNQ1 RYR2 SCN5A
18 myasthenic syndrome, congenital, 5 9.8 KCNH2 RYR2
19 hypertrophic cardiomyopathy 9.8 CAV3 RYR2 SCN5A
20 arrhythmogenic right ventricular cardiomyopathy 9.8 ANK2 KCNH2 RYR2 SCN5A
21 left ventricular noncompaction 9.7 KCNQ1 RYR2 SCN5A SNTA1
22 jervell and lange-nielsen syndrome 1 9.7 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 long qt syndrome 12 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
24 short qt syndrome 9.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
25 muscular disease 9.7 CAV3 RYR2 SNTA1
26 familial atrial fibrillation 9.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
27 catecholaminergic polymorphic ventricular tachycardia 9.6 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
28 sudden infant death syndrome 9.5 CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
29 cardiac arrest 9.5 AKAP9 ANK2 KCNH2 KCNQ1 RYR2 SCN5A
30 ventricular fibrillation, paroxysmal familial, 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
31 heart conduction disease 9.5 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
32 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.5 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
33 heart disease 9.4 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
34 intrinsic cardiomyopathy 9.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
35 brugada syndrome 9.3 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
36 cardiac arrhythmia 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
37 andersen cardiodysrhythmic periodic paralysis 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
38 long qt syndrome 6 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
39 atrial fibrillation 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
40 long qt syndrome 1 8.8 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2

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



Diseases related to Long Qt Syndrome 2
Sources

Symptoms & Phenotypes for Long Qt Syndrome 2

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
prolonged qt interval on ekg
torsade de pointes


Clinical features from OMIM:

613688

Human phenotypes related to Long Qt Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 prolonged qt interval 32 HP:0001657
3 syncope 32 HP:0001279
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 muscle MP:0005369 9.17 CAV3 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
Sources

Drugs & Therapeutics for Long Qt Syndrome 2

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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

Sources

Genetic Tests for Long Qt Syndrome 2

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Genetic tests related to Long Qt Syndrome 2:

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

Anatomical Context for Long Qt Syndrome 2

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MalaCards organs/tissues related to Long Qt Syndrome 2:

41
Heart, Testes
Sources

Publications for Long Qt Syndrome 2

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Articles related to Long Qt Syndrome 2:

(show all 45)
# Title Authors Year
1
Clinical aspects of the three major genetic forms of long QT syndrome (LQT1, LQT2, LQT3). ( 29504689 )
2018
2
Unique ECG presentations and clinical management of a symptomatic LQT2 female carrying a novel de novo KCNH2 mutation. ( 29037423 )
2018
3
Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use. ( 29855564 )
2018
4
NCX-Mediated Subcellular Ca2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes. ( 30173888 )
2018
5
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2. ( 28741726 )
2017
6
hERG 1a LQT2 C-terminus truncation mutants display hERG 1b-dependent dominant negative mechanisms. ( 26775140 )
2016
7
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2. ( 28082916 )
2016
8
QT interval prolongation in a patient with LQT2 on levetiracetam. ( 26076856 )
2015
9
Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes. ( 24623279 )
2014
10
Hyperphosphorylation of RyRs underlies triggered activity in transgenic rabbit model of LQT2 syndrome. ( 25249569 )
2014
11
Spatial correlation of action potential duration and diastolic dysfunction in transgenic and drug-induced LQT2 rabbits. ( 23892340 )
2013
12
The generation of induced pluripotent stem cells from a patient with KCNH2 G603D, without LQT2 disease associated symptom. ( 23917959 )
2013
13
KN-93, A CaMKII inhibitor, suppresses ventricular arrhythmia induced by LQT2 without decreasing TDR. ( 24142712 )
2013
14
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 )
2012
15
Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype. ( 21951015 )
2012
16
Differential conditions for early after-depolarizations and triggered activity in cardiomyocytes derived from transgenic LQT1 and LQT2 rabbits. ( 22183728 )
2012
17
Proteomic analyses of transgenic LQT1 and LQT2 rabbit hearts elucidate an increase in expression and activity of energy producing enzymes. ( 22796357 )
2012
18
Antiarrhythmic effects of free polyunsaturated fatty acids in an experimental model of LQT2 and LQT3 due to suppression of early afterdepolarizations and reduction of spatial and temporal dispersion of repolarization. ( 21459164 )
2011
19
LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. ( 21712262 )
2011
20
Automated perioperative QT monitoring in a patient with long QT syndrome 2. ( 20952434 )
2010
21
Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2. ( 21164565 )
2010
22
Repolarization dynamics during exercise discriminate between LQT1 and LQT2 genotypes. ( 20455992 )
2010
23
Pharmacological enhancement of cardiac gap junction coupling prevents arrhythmias in canine LQT2 model. ( 19629804 )
2009
24
Inhibition of the Na+/Ca2+ exchanger suppresses torsades de pointes in an intact heart model of long QT syndrome-2 and long QT syndrome-3. ( 18929333 )
2008
25
A quantitative assessment of T-wave morphology in LQT1, LQT2, and healthy individuals based on Holter recording technology. ( 18180017 )
2008
26
Pharmacogenomics of anesthetic drugs in transgenic LQT1 and LQT2 rabbits reveal genotype-specific differential effects on cardiac repolarization. ( 18835916 )
2008
27
Repolarization morphology in adult LQT2 carriers with borderline prolonged QTc interval. ( 17161789 )
2006
28
Effects of epinephrine on right ventricular monophasic action potentials in the LQT1 versus LQT2 form of long QT syndrome: preferential enhancement of "triangulation" in LQT1. ( 15733182 )
2005
29
Gender-related differences of ventricular repolarization in LQT2 rabbit model. ( 16344901 )
2005
30
A common antitussive drug, clobutinol, precipitates the long QT syndrome 2. ( 15280442 )
2004
31
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. ( 15851169 )
2004
32
Long-term follow-up of notched T waves in female patients with LQT2 (HERG) mutations. ( 15090700 )
2004
33
Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome. ( 12591753 )
2003
34
Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. ( 12069453 )
2002
35
Triggers of ventricular tachyarrhythmias and therapeutic effects of nicorandil in canine models of LQT2 and LQT3 syndromes. ( 12142125 )
2002
36
Differentiation between LQT1 and LQT2 patients and unaffected subjects using 24-hour electrocardiographic recordings. ( 11897209 )
2002
37
Differential effects of beta-blockade on dispersion of repolarization in the absence and presence of sympathetic stimulation between the LQT1 and LQT2 forms of congenital long QT syndrome. ( 12084597 )
2002
38
Increasing I(Ks) corrects abnormal repolarization in rabbit models of acquired LQT2 and ventricular hypertrophy. ( 12124214 )
2002
39
Detection of spatial repolarization abnormalities in patients with LQT1 and LQT2 forms of congenital long-QT syndrome. ( 12450262 )
2002
40
Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome. ( 11410559 )
2001
41
Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome. ( 11693770 )
2001
42
Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome. ( 10716483 )
2000
43
LQT2 : amplitude reduction and loss of selectivity in the tail that wags the HERG channel. ( 10720408 )
2000
44
Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2. ( 11196567 )
2000
45
Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome. ( 9323097 )
1997
Sources

Variations for Long Qt Syndrome 2

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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 180)
# 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 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
6 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1805128 GRCh38 Chromosome 21, 34449382: 34449382
7 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
8 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh38 Chromosome 7, 150951711: 150951711
9 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh37 Chromosome 7, 150649662: 150649662
10 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh38 Chromosome 7, 150952574: 150952574
11 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh37 Chromosome 7, 150648703: 150648703
12 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh38 Chromosome 7, 150951615: 150951615
13 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
14 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh38 Chromosome 7, 150948984: 150948984
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.1468G> A (p.Ala490Thr) single nucleotide variant Pathogenic rs28928905 GRCh37 Chromosome 7, 150649602: 150649602
24 KCNH2 NM_000238.3(KCNH2): c.1468G> A (p.Ala490Thr) single nucleotide variant Pathogenic rs28928905 GRCh38 Chromosome 7, 150952514: 150952514
25 KCNH2 NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs121912509 GRCh37 Chromosome 7, 150644565: 150644565
26 KCNH2 NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs121912509 GRCh38 Chromosome 7, 150947477: 150947477
27 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
28 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh38 Chromosome 7, 150948995: 150948995
29 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
30 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh38 Chromosome 7, 150950216: 150950216
31 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh37 Chromosome 7, 150671913: 150671913
32 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh38 Chromosome 7, 150974825: 150974825
33 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh37 Chromosome 7, 150647399: 150647399
34 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh38 Chromosome 7, 150950311: 150950311
35 KCNH2 KCNH2, 1-BP INS, 2775G insertion Pathogenic
36 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh37 Chromosome 7, 150645954: 150645954
37 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh38 Chromosome 7, 150948866: 150948866
38 KCNH2 NM_000238.3(KCNH2): c.2738C> T (p.Ala913Val) single nucleotide variant Conflicting interpretations of pathogenicity rs77331749 GRCh37 Chromosome 7, 150644921: 150644921
39 KCNH2 NM_000238.3(KCNH2): c.2738C> T (p.Ala913Val) single nucleotide variant Conflicting interpretations of pathogenicity rs77331749 GRCh38 Chromosome 7, 150947833: 150947833
40 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh37 Chromosome 7, 150648809: 150648809
41 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh38 Chromosome 7, 150951721: 150951721
42 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
43 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh38 Chromosome 7, 150951552: 150951552
44 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh37 Chromosome 7, 150648650: 150648650
45 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh38 Chromosome 7, 150951562: 150951562
46 KCNH2 NM_000238.3(KCNH2): c.3140G> T (p.Arg1047Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36210421 GRCh37 Chromosome 7, 150644428: 150644428
47 KCNH2 NM_000238.3(KCNH2): c.3140G> T (p.Arg1047Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36210421 GRCh38 Chromosome 7, 150947340: 150947340
48 KCNH2 NM_000238.3(KCNH2): c.1039C> T (p.Pro347Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138776684 GRCh37 Chromosome 7, 150654468: 150654468
49 KCNH2 NM_000238.3(KCNH2): c.1039C> T (p.Pro347Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138776684 GRCh38 Chromosome 7, 150957380: 150957380
50 KCNH2 NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu) single nucleotide variant Likely pathogenic rs199472902 GRCh37 Chromosome 7, 150649718: 150649718
Sources

Expression for Long Qt Syndrome 2

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

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

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 37
Show member pathways
 12.43 KCNE1 KCNQ1 RYR2 SCN5A
2
Cardiac conduction 66
Show member pathways
 12.34 AKAP9 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.15 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.85 CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
5
Salivary secretion 37
Show member pathways
 11.83 KCNE2 KCNJ2 KCNQ1
6
Potassium Channels 66
Show member pathways
 11.75 KCNH2 KCNJ2 KCNQ1
7
Phase 0 - rapid depolarisation 66
Show member pathways
 11.53 AKAP9 KCNE1 KCNE2 KCNQ1 SCN5A
8
Antiarrhythmic Pathway, Pharmacodynamics 61
10.97 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9
Interaction between L1 and Ankyrins 66
10.95 ANK2 SCN5A
10
TarBasePathway 1
10.82 KCNE1 KCNJ2 KCNQ1
Sources

GO Terms for Long Qt Syndrome 2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 lysosome GO:0005764 9.73 ANK2 KCNE1 KCNE2 KCNQ1
3 membrane raft GO:0045121 9.67 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 9.49 KCNJ2 RYR2
8 dystrophin-associated glycoprotein complex GO:0016010 9.48 CAV3 SNTA1
9 sarcolemma GO:0042383 9.35 ANK2 CAV3 RYR2 SCN5A SNTA1
10 voltage-gated potassium channel complex GO:0008076 9.1 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
11 plasma membrane GO:0005886 10.16 ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2

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

(show top 50) (show all 51)
# 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 muscle contraction GO:0060048 9.86 KCNH2 KCNQ1 RYR2 SCN5A
4 cardiac muscle cell action potential involved in contraction GO:0086002 9.84 KCNE1 KCNE2 KCNJ2 SCN5A
5 cellular response to drug GO:0035690 9.83 KCNE2 KCNH2 KCNQ1
6 cellular response to cAMP GO:0071320 9.81 AKAP9 KCNE1 KCNQ1
7 positive regulation of potassium ion transmembrane transport GO:1901381 9.81 KCNE1 KCNH2 KCNJ2 KCNQ1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.81 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
9 potassium ion export across plasma membrane GO:0097623 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
10 regulation of cardiac muscle contraction GO:0055117 9.78 ANK2 CAV3 RYR2
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
12 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
13 regulation of cardiac muscle cell contraction GO:0086004 9.77 ANK2 KCNJ2 SCN5A
14 regulation of heart rate GO:0002027 9.77 ANK2 CAV3 RYR2 SCN5A SNTA1
15 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
16 atrial cardiac muscle cell action potential GO:0086014 9.75 ANK2 KCNQ1 SCN5A
17 membrane repolarization GO:0086009 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
18 regulation of membrane repolarization GO:0060306 9.72 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
19 potassium ion import across plasma membrane GO:1990573 9.71 KCNE2 KCNJ2
20 regulation of heart contraction GO:0008016 9.71 CAV3 KCNQ1
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNE1 KCNH2 KCNJ2 KCNQ1
22 potassium ion import GO:0010107 9.7 KCNE2 KCNJ2
23 regulation of calcium ion transport GO:0051924 9.7 ANK2 CAV3
24 positive regulation of microtubule polymerization GO:0031116 9.7 AKAP9 CAV3
25 positive regulation of heart rate GO:0010460 9.7 KCNQ1 RYR2
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 ANK2 RYR2
27 membrane depolarization during action potential GO:0086010 9.69 KCNH2 SCN5A
28 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.69 KCNE1 KCNE2
29 cellular response to epinephrine stimulus GO:0071872 9.68 KCNQ1 RYR2
30 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.68 KCNJ2 SCN5A
31 negative regulation of potassium ion transmembrane transport GO:1901380 9.68 CAV3 KCNH2
32 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 CAV3 SCN5A
33 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.67 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 9.66 KCNE1 KCNE2
37 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.65 AKAP9 ANK2
38 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.65 KCNQ1 SCN5A
39 SA node cell action potential GO:0086015 9.65 ANK2 SCN5A
40 membrane repolarization during action potential GO:0086011 9.65 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
41 T-tubule organization GO:0033292 9.64 ANK2 CAV3
42 membrane depolarization during SA node cell action potential GO:0086046 9.63 ANK2 SCN5A
43 sarcoplasmic reticulum calcium ion transport GO:0070296 9.63 ANK2 RYR2
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 transmembrane transport GO:0055085 10.01 KCNH2 KCNQ1 RYR2 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 scaffold protein binding GO:0097110 9.7 KCNH2 KCNQ1 SCN5A
7 potassium channel regulator activity GO:0015459 9.67 AKAP9 KCNE1 KCNE2
8 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
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 nitric-oxide synthase binding GO:0050998 9.58 CAV3 SCN5A SNTA1
12 sodium channel regulator activity GO:0017080 9.57 CAV3 SNTA1
13 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
14 protein kinase A catalytic subunit binding GO:0034236 9.54 KCNQ1 RYR2
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
16 ion channel binding GO:0044325 9.28 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNQ1
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
Sources

Sources for Long Qt Syndrome 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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