LQT2
MCID: LNG047
MIFTS: 58

Long Qt Syndrome 2 (LQT2)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 57 12 20 72 29 6 15 70
Lqt2 57 12 20 72
Long Qt Syndrome 2, Acquired, Susceptibility to 57 29 6
Long Qt Syndrome, Acquired, Reduced Susceptibility to 57 29
Long Qt Syndrome 1/2 72 6
Long Qt Syndrome 2/3 72 6
Long Qt Syndrome 2/5 72 6
Susceptibility to Acquired Long Qt Syndrome 2 72
Long Qt Syndrome, Acquired, Reduced 57
Long Qt Syndrome 2, Acquired 57
Qt Syndrome, Long, Type 2 39
Long Qt Syndrome Type 2 73
Long Qt Syndrome 2/9 72
Long Qt Syndrome 1-2 70
Long Qt Syndrome 2-3 70
Long Qt Syndrome 2-5 70
Long Qt Syndrome 9 70
Long Qt Syndrome-2 13
Lqt1/2 72
Lqt2/3 72
Lqt2/5 72
Lqt2/9 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
long qt syndrome 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110645
OMIM® 57 613688
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
UMLS 70 C2678485 C3150943 C3501851 more

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) (Updated 05-Apr-2021)

MalaCards based summary : Long Qt Syndrome 2, also known as lqt2, is related to long qt syndrome 5 and long qt syndrome 9, 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 Transmission across Chemical Synapses and Circadian entrainment. The drugs Spironolactone and Mineralocorticoids have been mentioned in the context of this disorder. Affiliated tissues include heart and eye, 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 : 72 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 : 73 Long QT syndrome (LQTS) is a condition in which repolarization of the heart after a heartbeat is... more...

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
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 5 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 long qt syndrome 9 31.8 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
3 properdin deficiency, x-linked 30.5 KCNJ2 KCNH2
4 syncope 30.5 SCN5A RYR2 KCNQ1 KCNH2
5 hypokalemia 30.5 KCNQ1 KCNJ5 KCNH2
6 cardiac conduction defect 30.5 SCN5A RYR2 KCNQ1 CACNA1C
7 cardiac arrest 30.3 TRDN SCN5A RYR2 NOS1AP KCNQ1 KCNH2
8 atrioventricular block 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
9 cardiac arrhythmia 30.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 CACNA1C
10 ventricular fibrillation, paroxysmal familial, 1 30.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
11 familial long qt syndrome 29.9 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
12 long qt syndrome 13 29.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
13 long qt syndrome 29.6 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
14 long qt syndrome 6 29.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
15 long qt syndrome 1 29.5 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
16 long qt syndrome 3 29.3 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
17 developmental and epileptic encephalopathy 14 10.4 SCN5A KCNQ1 KCNH2
18 familial short qt syndrome 10.4 KCNQ1 KCNJ2 KCNH2
19 first-degree atrioventricular block 10.4 SCN5A KCNJ2 KCNH2
20 idiopathic ventricular fibrillation, non brugada type 10.4 SCN5A RYR2 CACNA1C
21 third-degree atrioventricular block 10.4 SCN5A KCNJ2 KCNH2
22 toxic myocarditis 10.4 ALG10B ALG10
23 brugada syndrome 3 10.4 KCNE2 CACNA1C ANK2
24 deafness, autosomal recessive 98 10.4 KCNQ1 KCNE2 KCNE1
25 familial periodic paralysis 10.4 SCN5A KCNJ2 CACNA1C
26 ventricular tachycardia, catecholaminergic polymorphic, 3 10.4 RYR2 KCNJ2 CASQ2
27 noonan syndrome with multiple lentigines 10.3 SCN5A RYR2 KCNQ1 KCNH2
28 sick sinus syndrome 10.3 SNTA1 SCN5A CACNA1C ANK2
29 neuromuscular junction disease 10.3 SCN5A RYR2 KCNH2 CACNA1C
30 right bundle branch block 10.3 SCN5A KCNH2 KCND3 CACNA1C
31 arrhythmogenic right ventricular dysplasia, familial, 2 10.3 TRDN RYR2 CASQ2
32 long qt syndrome 15 10.3 TRDN KCNJ2 KCNE1 CACNA1C
33 progressive familial heart block, type ia 10.3 SCN5A ANK2
34 brugada syndrome 4 10.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
35 ventricular tachycardia, catecholaminergic polymorphic, 2 10.3 TRDN RYR2 CASQ2
36 wolff-parkinson-white syndrome 10.3 SCN5A KCNQ1 CASQ2
37 progressive familial heart block 10.3 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3 SCN5A KCNQ1 KCNH2 CACNA1C
39 chromosome 2q35 duplication syndrome 10.3 KCNQ1 KCNJ2 KCNH2 CACNA1C
40 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2 KCND3 AKAP9
41 congestive heart failure 10.3 SCN5A RYR2 KCNQ1 CACNA1C
42 rasopathy 10.3 SCN5A RYR2 KCNQ1 KCNH2
43 hypokalemic periodic paralysis, type 1 10.3 TRDN SCN5A KCNJ2 KCNE1 CACNA1C
44 isolated elevated serum creatine phosphokinase levels 10.3 TRDN SCN5A RYR2 CAV3 CACNA1C
45 anhidrosis, isolated, with normal sweat glands 10.3 RYR2 CACNA1C
46 cardiomyopathy, familial hypertrophic, 1 10.2 SCN5A RYR2 KCNH2 CAV3 CACNA1C
47 arrhythmogenic right ventricular dysplasia, familial, 12 10.2 RYR2 KCNH2
48 early infantile epileptic encephalopathy 10.2 SCN5A SCN4B KCNQ1 KCNH2 CACNA1C
49 long qt syndrome 14 10.2 TRDN SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
50 neuromuscular disease 10.2 SCN5A RYR2 KCNH2 CAV3

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



Diseases related to Long Qt Syndrome 2

Symptoms & Phenotypes for Long Qt Syndrome 2

Human phenotypes related to Long Qt Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 prolonged qt interval 31 HP:0001657
3 syncope 31 HP:0001279
4 ventricular fibrillation 31 HP:0001663
5 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

613688 (Updated 05-Apr-2021)

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 9.7 ALG10 CACNA1C CASQ2 CAV3 KCND3 KCNH2
2 muscle MP:0005369 9.32 CACNA1C CASQ2 CAV3 KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Long Qt Syndrome 2

Drugs for Long Qt Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved 1952-01-7, 52-01-7 5833
2 Mineralocorticoids
3 Adrenergic Antagonists
4 Hormone Antagonists
5 Adrenergic beta-Antagonists
6 Adrenergic Agents
7 Mineralocorticoid Receptor Antagonists
8 Neurotransmitter Agents
9 diuretics
10 Hormones
11 Diuretics, Potassium Sparing

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled Study to Evaluate the Effect of GS-6615 on QT, Safety and Tolerability in Subjects With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
2 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone

Search NIH Clinical Center for Long Qt Syndrome 2

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 ALG10B KCNH2
2 Long Qt Syndrome, Acquired, Reduced Susceptibility to 29
3 Long Qt Syndrome 2, Acquired, Susceptibility to 29

Anatomical Context for Long Qt Syndrome 2

MalaCards organs/tissues related to Long Qt Syndrome 2:

40
Heart, Eye

Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

(show top 50) (show all 561)
# Title Authors PMID Year
1
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 6 57 61
15840476 2005
2
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 61 57 6
7889573 1995
3
Modelling the long QT syndrome with induced pluripotent stem cells. 57 6
21240260 2011
4
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 6 57
18551196 2008
5
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 57
16922724 2006
6
In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. 57 6
15280551 2004
7
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 6 57
10220144 1999
8
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 57 6
9694858 1998
9
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2. 61 6
28082916 2016
10
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects. 61 6
26063740 2015
11
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. 61 6
22052944 2012
12
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 61 6
19841300 2009
13
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 6 61
19716085 2009
14
Identification of the gene causing long QT syndrome in an Israeli family. 61 6
19070294 2008
15
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 6 61
18441445 2008
16
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 61 6
16818214 2006
17
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 6 61
16432067 2006
18
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. 6 61
15760896 2005
19
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 61 6
14998624 2004
20
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus. 61 6
12021266 2002
21
Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. 61 57
12070109 2002
22
Unique topographical distribution of M cells underlies reentrant mechanism of torsade de pointes in the long-QT syndrome. 61 57
11889021 2002
23
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. 61 57
11854117 2002
24
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. 61 6
10996323 2000
25
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 6 61
10862094 2000
26
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 6 61
10753933 2000
27
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 61 6
10483966 1999
28
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 61 57
9753711 1998
29
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 61 6
9544837 1998
30
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
31
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 6
27816319 2017
32
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. 6
27871843 2017
33
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 6
27041096 2016
34
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 6
27041150 2016
35
Congenital long QT syndrome with compound mutations in the KCNH2 gene. 6
24057343 2014
36
Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family. 6
24015048 2013
37
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 6
22949429 2012
38
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 6
22429796 2012
39
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 6
19843919 2009
40
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. 6
19490267 2009
41
High prevalence of four long QT syndrome founder mutations in the Finnish population. 6
19160088 2009
42
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 6
18752142 2008
43
Long QT and Brugada syndrome gene mutations in New Zealand. 6
17905336 2007
44
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 6
17275750 2007
45
Female predominance and transmission distortion in the long-QT syndrome. 57
17192539 2006
46
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 6
17060380 2006
47
Molecular ablation of ventricular tachycardia after myocardial infarction. 57
17072309 2006
48
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. 6
16823764 2006
49
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 6
16361248 2006
50
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. 6
16754261 2006

Variations for Long Qt Syndrome 2

ClinVar genetic disease variations for Long Qt Syndrome 2:

6 (show top 50) (show all 248)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Conflicting interpretations of pathogenicity, risk factor 67509 rs36210422 GRCh37: 7:150655537-150655537
GRCh38: 7:150958449-150958449
2 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Pathogenic 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
3 KCNH2 NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) SNV Pathogenic 67248 rs9333649 GRCh37: 7:150648767-150648767
GRCh38: 7:150951679-150951679
4 KCNH2 NM_000238.4(KCNH2):c.1139del (p.Leu380fs) Deletion Pathogenic 632866 rs1563161538 GRCh37: 7:150649931-150649931
GRCh38: 7:150952843-150952843
5 KCNH2 NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) SNV Pathogenic 67458 rs199473018 GRCh37: 7:150644581-150644581
GRCh38: 7:150947493-150947493
6 KCNH2 NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) SNV Pathogenic 67547 rs199472885 GRCh37: 7:150654573-150654573
GRCh38: 7:150957485-150957485
7 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 GRCh37: 7:150648731-150648731
GRCh38: 7:150951643-150951643
8 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) SNV Pathogenic 3135 rs1800171 GRCh37: 11:2604775-2604775
GRCh38: 11:2583545-2583545
9 KCNH2 NM_172057.2(KCNH2):c.1436del (p.Asn479fs) Deletion Pathogenic 200654 rs794728446 GRCh37: 7:150646080-150646080
GRCh38: 7:150948992-150948992
10 KCNH2 NM_172056.2(KCNH2):c.678del (p.Ala228fs) Deletion Pathogenic 200783 rs794728496 GRCh37: 7:150655385-150655385
GRCh38: 7:150958297-150958297
11 KCNH2 NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) SNV Pathogenic 67323 rs199472961 GRCh37: 7:150648583-150648583
GRCh38: 7:150951495-150951495
12 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 GRCh37: 7:150648595-150648595
GRCh38: 7:150951507-150951507
13 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) SNV Pathogenic 14430 rs28928905 GRCh37: 7:150649602-150649602
GRCh38: 7:150952514-150952514
14 KCNH2 NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) SNV Pathogenic 200407 rs794728382 GRCh37: 7:150648050-150648050
GRCh38: 7:150950962-150950962
15 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 GRCh37: 7:150648595-150648595
GRCh38: 7:150951507-150951507
16 KCNH2 NM_172057.2(KCNH2):c.1997del (p.Gly666fs) Deletion Pathogenic 200799 rs794728504 GRCh37: 7:150644551-150644551
GRCh38: 7:150947463-150947463
17 KCNH2 NM_000238.4(KCNH2):c.1102del (p.His368fs) Deletion Pathogenic 818076 rs1584863723 GRCh37: 7:150654405-150654405
GRCh38: 7:150957317-150957317
18 KCNH2 NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) SNV Pathogenic 14443 rs77331749 GRCh37: 7:150644921-150644921
GRCh38: 7:150947833-150947833
19 KCNH2 NM_000238.3(KCNH2):c.2842C>T (p.Arg948Cys) SNV Pathogenic 14441 rs121912514 GRCh37: 7:150644817-150644817
GRCh38: 7:150947729-150947729
20 KCNH2 NM_172056.2(KCNH2):c.656A>T (p.Asp219Val) SNV Pathogenic 157662 rs587777907 GRCh37: 7:150655407-150655407
GRCh38: 7:150958319-150958319
21 CAV3 NM_033337.3(CAV3):c.233C>T (p.Thr78Met) SNV Pathogenic 8293 rs72546668 GRCh37: 3:8787330-8787330
GRCh38: 3:8745644-8745644
22 KCNH2 NM_172056.2(KCNH2):c.1408A>G (p.Asn470Asp) SNV Pathogenic 14421 rs121912505 GRCh37: 7:150649662-150649662
GRCh38: 7:150952574-150952574
23 KCNH2 NM_172056.2(KCNH2):c.1778T>G (p.Ile593Arg) SNV Pathogenic 14423 rs28928904 GRCh37: 7:150648703-150648703
GRCh38: 7:150951615-150951615
24 KCNH2 NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) SNV Pathogenic 14424 rs121912506 GRCh37: 7:150646072-150646072
GRCh38: 7:150948984-150948984
25 KCNH2 NM_172056.2(KCNH2):c.1261del (p.Thr421fs) Deletion Pathogenic 14426 rs1554426258 GRCh37: 7:150649809-150649809
GRCh38: 7:150952721-150952721
26 KCNH2 NM_172056.2(KCNH2):c.1714G>C (p.Gly572Arg) SNV Pathogenic 14429 rs9333649 GRCh37: 7:150648767-150648767
GRCh38: 7:150951679-150951679
27 KCNH2 NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) SNV Pathogenic 14432 rs121912510 GRCh37: 7:150646083-150646083
GRCh38: 7:150948995-150948995
28 KCNH2 NM_172056.2(KCNH2):c.193A>C (p.Thr65Pro) SNV Pathogenic 14434 rs121912511 GRCh37: 7:150671913-150671913
GRCh38: 7:150974825-150974825
29 KCNH2 NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) SNV Pathogenic 14435 rs121912512 GRCh37: 7:150647399-150647399
GRCh38: 7:150950311-150950311
30 KCNH2 NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) SNV Pathogenic 14440 rs121912513 GRCh37: 7:150645954-150645954
GRCh38: 7:150948866-150948866
31 KCNH2 NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) SNV Pathogenic 14440 rs121912513 GRCh37: 7:150645954-150645954
GRCh38: 7:150948866-150948866
32 KCNH2 NM_172056.2(KCNH2):c.1672G>C (p.Ala558Pro) SNV Pathogenic 14444 rs121912516 GRCh37: 7:150648809-150648809
GRCh38: 7:150951721-150951721
33 KCNH2 NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) SNV Pathogenic 67543 rs199472884 GRCh37: 7:150655147-150655147
GRCh38: 7:150958059-150958059
34 KCNH2 NM_172056.2(KCNH2):c.1786C>G (p.Pro596Ala) SNV Pathogenic 218093 rs863225288 GRCh37: 7:150648695-150648695
GRCh38: 7:150951607-150951607
35 KCNH2 NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) SNV Pathogenic 67279 rs199472936 GRCh37: 7:150648680-150648680
GRCh38: 7:150951592-150951592
36 KCNH2 NM_172057.2(KCNH2):c.1572+1G>A SNV Pathogenic 14438 rs1554424772 GRCh37: 7:150645943-150645943
GRCh38: 7:150948855-150948855
37 KCNQ1 NM_181798.1(KCNQ1):c.181del (p.Trp61fs) Deletion Pathogenic 53067 rs397508116 GRCh37: 11:2591942-2591942
GRCh38: 11:2570712-2570712
38 KCNH2 NM_172056.2(KCNH2):c.1920C>A (p.Phe640Leu) SNV Pathogenic 67336 rs199472970 GRCh37: 7:150648561-150648561
GRCh38: 7:150951473-150951473
39 KCNH2 NM_172056.2(KCNH2):c.2400T>A (p.Gly800=) SNV Pathogenic 560686 rs1563152963 GRCh37: 7:150647254-150647254
GRCh38: 7:150950166-150950166
40 KCNH2 NM_172056.2(KCNH2):c.1848C>G (p.Tyr616Ter) SNV Pathogenic 560696 rs1563156868 GRCh37: 7:150648633-150648633
GRCh38: 7:150951545-150951545
41 KCNH2 NM_000238.3(KCNH2):c.2935_2939del (p.Lys979fs) Deletion Pathogenic 431036 rs1131692327 GRCh37: 7:150644720-150644724
GRCh38: 7:150947632-150947636
42 KCNH2 NM_000238.3(KCNH2):c.2705del (p.Pro902fs) Deletion Pathogenic 598783 rs1563148264 GRCh37: 7:150644954-150644954
GRCh38: 7:150947866-150947866
43 KCNH2 NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) SNV Pathogenic 67284 rs199472938 GRCh37: 7:150648667-150648667
GRCh38: 7:150951579-150951579
44 KCNH2 NM_000238.3(KCNH2):c.3108dup (p.Asp1037fs) Duplication Pathogenic 637977 rs1584843033 GRCh37: 7:150644459-150644460
GRCh38: 7:150947371-150947372
45 KCNH2 NM_000238.4(KCNH2):c.46del (p.Asp16fs) Deletion Pathogenic 638156 rs1584885912 GRCh37: 7:150674956-150674956
GRCh38: 7:150977868-150977868
46 KCNH2 NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) SNV Pathogenic 869431 GRCh37: 7:150648548-150648548
GRCh38: 7:150951460-150951460
47 KCNH2 NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) SNV Pathogenic 869439 GRCh37: 7:150672011-150672011
GRCh38: 7:150974923-150974923
48 KCNH2 NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) Duplication Pathogenic 692257 rs1584843078 GRCh37: 7:150644465-150644466
GRCh38: 7:150947377-150947378
49 KCNH2 NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) Duplication Pathogenic 692259 rs1584847173 GRCh37: 7:150645607-150645608
GRCh38: 7:150948519-150948520
50 KCNH2 NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) Deletion Pathogenic 692260 rs1584883087 GRCh37: 7:150671856-150671874
GRCh38: 7:150974768-150974786

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

72 (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

Expression for Long Qt Syndrome 2

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

Pathways for Long Qt Syndrome 2

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCND3 AKAP9
2
Show member pathways
12.63 RYR2 NOS1AP KCNQ1 KCNJ5 KCNJ2 CACNA1C
3
Show member pathways
12.5 TRDN SCN5A SCN4B RYR2 KCNQ1 KCNJ2
4
Show member pathways
12.38 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CACNA1C
5
Show member pathways
12.35 RYR2 KCNJ5 CASQ2 CACNA1C
6
Show member pathways
12.31 RYR2 KCNJ5 KCNJ2 CACNA1C
7
Show member pathways
12.27 RYR2 KCNQ1 KCNJ2 KCNE2
8 12.21 TRDN RYR2 CASQ2 CACNA1C
9 12.17 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
10 12.13 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
11
Show member pathways
11.94 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCND3
12
Show member pathways
11.84 SCN5A SCN4B ANK2
13 11.7 TRDN RYR2 CASQ2 CACNA1C
14
Show member pathways
11.68 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
15 11.18 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
16 11.15 SCN5A SCN4B ANK2
17 10.89 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1
2 integral component of membrane GO:0016021 10.34 TRDN SCN5A SCN4B RYR2 KCNQ1 KCNJ5
3 plasma membrane GO:0005886 10.27 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1
4 endoplasmic reticulum GO:0005783 10.15 TRDN SCN5A KCNQ1 KCNE2 CAV3 ALG10B
5 cell surface GO:0009986 10 SCN5A KCNH2 KCNE2 KCNE1 CAV3
6 membrane raft GO:0045121 9.87 KCNQ1 KCNE1 CAV3 ANK2
7 Z disc GO:0030018 9.86 SCN5A RYR2 NOS1AP KCNE1 CAV3 CASQ2
8 postsynaptic membrane GO:0045211 9.81 SNTA1 KCND3 CACNA1C ANK2
9 sarcolemma GO:0042383 9.76 SNTA1 SCN5A RYR2 NOS1AP KCND3 CAV3
10 caveola GO:0005901 9.72 SCN5A NOS1AP CAV3
11 intercalated disc GO:0014704 9.72 SCN5A SCN4B KCNJ2 CAV3 ANK2
12 lateral plasma membrane GO:0016328 9.71 SNTA1 SCN5A KCNQ1
13 sarcoplasmic reticulum membrane GO:0033017 9.71 TRDN RYR2 NOS1AP CASQ2
14 sarcoplasmic reticulum GO:0016529 9.7 TRDN RYR2 CASQ2
15 junctional sarcoplasmic reticulum membrane GO:0014701 9.61 TRDN RYR2 CASQ2
16 dystrophin-associated glycoprotein complex GO:0016010 9.59 SNTA1 CAV3
17 voltage-gated sodium channel complex GO:0001518 9.58 SCN5A SCN4B
18 L-type voltage-gated calcium channel complex GO:1990454 9.58 NOS1AP CACNA1C
19 sarcoplasmic reticulum lumen GO:0033018 9.56 TRDN CASQ2
20 T-tubule GO:0030315 9.5 SCN5A NOS1AP KCNJ5 KCNJ2 CAV3 CACNA1C
21 inward rectifier potassium channel complex GO:1902937 9.48 NOS1AP KCNH2
22 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.26 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
2 transmembrane transport GO:0055085 10.15 SCN5A RYR2 KCNQ1 KCNH2 KCND3 CACNA1C
3 potassium ion transport GO:0006813 10.12 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 10.11 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
5 ion transmembrane transport GO:0034220 10.09 TRDN SCN5A RYR2 KCNJ5 KCNH2 CASQ2
6 cardiac muscle contraction GO:0060048 10.02 SCN5A SCN4B RYR2 KCNQ1 KCNH2 CASQ2
7 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A RYR2 CAV3 CASQ2 ANK2
8 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
9 potassium ion export across plasma membrane GO:0097623 9.96 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.93 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
11 muscle contraction GO:0006936 9.92 TRDN SNTA1 CAV3
12 cellular calcium ion homeostasis GO:0006874 9.91 TRDN RYR2 ANK2
13 membrane repolarization GO:0086009 9.91 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.91 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
15 cardiac conduction GO:0061337 9.91 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
16 potassium ion import across plasma membrane GO:1990573 9.9 KCNJ5 KCNJ2 KCNH2 KCNE2
17 cellular response to drug GO:0035690 9.89 KCNQ1 KCNH2 KCNE2
18 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.89 RYR2 CASQ2 CACNA1C ANK2
19 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B KCNJ2 CACNA1C
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1 KCND3
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.88 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 KCND3
22 cellular response to cAMP GO:0071320 9.87 KCNQ1 KCNE1 AKAP9
23 regulation of cardiac conduction GO:1903779 9.87 TRDN RYR2 CASQ2
24 membrane repolarization during action potential GO:0086011 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
25 regulation of membrane repolarization GO:0060306 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2 AKAP9
26 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
27 regulation of cardiac muscle contraction GO:0055117 9.81 RYR2 CAV3 ANK2
28 regulation of potassium ion transmembrane transport GO:1901379 9.81 KCNH2 KCNE2 KCNE1
29 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.8 TRDN CASQ2 ANK2
30 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNQ1 KCNE2 KCNE1
31 regulation of cardiac muscle cell contraction GO:0086004 9.79 SCN5A KCNJ2 ANK2
32 atrial cardiac muscle cell action potential GO:0086014 9.78 SCN5A KCNQ1 ANK2
33 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.74 TRDN CASQ2
34 regulation of sodium ion transmembrane transporter activity GO:2000649 9.74 SCN4B CAV3
35 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.74 ALG10B ALG10
36 membrane depolarization during action potential GO:0086010 9.74 SCN5A KCNH2
37 positive regulation of sodium ion transport GO:0010765 9.74 SCN5A SCN4B
38 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.73 RYR2 CACNA1C
39 calcium ion transport into cytosol GO:0060402 9.73 RYR2 CACNA1C
40 detection of calcium ion GO:0005513 9.73 RYR2 CASQ2
41 cellular response to epinephrine stimulus GO:0071872 9.73 RYR2 KCNQ1
42 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.73 TRDN CASQ2
43 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 KCNH2 CAV3
44 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 RYR2 CACNA1C
45 cellular response to caffeine GO:0071313 9.72 RYR2 CASQ2
46 T-tubule organization GO:0033292 9.72 CAV3 ANK2
47 regulation of sodium ion transmembrane transport GO:1902305 9.72 SNTA1 SCN5A
48 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.71 CAV3 CASQ2
49 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 CAV3 AKAP9
50 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.71 TRDN RYR2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.54 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
2 ion channel activity GO:0005216 9.91 SCN5A RYR2 KCNQ1 KCNH2 KCND3 CACNA1C
3 calmodulin binding GO:0005516 9.89 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
4 potassium channel activity GO:0005267 9.85 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
5 delayed rectifier potassium channel activity GO:0005251 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
6 voltage-gated potassium channel activity GO:0005249 9.77 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
7 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2
8 potassium channel regulator activity GO:0015459 9.74 KCNE2 KCNE1 AKAP9
9 sodium channel regulator activity GO:0017080 9.72 SNTA1 SCN4B CAV3
10 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ5 KCNJ2 KCNH2 KCNE2
11 protein kinase A regulatory subunit binding GO:0034237 9.69 RYR2 KCNQ1 AKAP9
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.65 KCNQ1 KCNJ2 KCNH2 KCNE1 KCND3
13 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 KCND3
15 nitric-oxide synthase binding GO:0050998 9.62 SNTA1 SCN5A NOS1AP CAV3
16 voltage-gated sodium channel activity GO:0005248 9.6 SCN5A SCN4B
17 protein kinase A catalytic subunit binding GO:0034236 9.59 RYR2 KCNQ1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN5A SCN4B
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.56 KCNQ1 KCNJ5
20 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity GO:0106073 9.52 ALG10B ALG10
21 ion channel binding GO:0044325 9.4 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1

Sources for Long Qt Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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