LQT2
MCID: LNG047
MIFTS: 58

Long Qt Syndrome 2 (LQT2)

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

Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 56 12 52 73 29 6 15 71
Lqt2 56 12 52 73
Long Qt Syndrome 2, Acquired, Susceptibility to 56 29 6
Long Qt Syndrome, Acquired, Reduced Susceptibility to 56 29
Long Qt Syndrome 2/5 73 6
Susceptibility to Acquired Long Qt Syndrome 2 73
Long Qt Syndrome, Acquired, Reduced 56
Long Qt Syndrome 2, Acquired 56
Qt Syndrome, Long, Type 2 39
Long Qt Syndrome Type 2 74
Long Qt Syndrome 1/2 73
Long Qt Syndrome 2/3 73
Long Qt Syndrome 2/9 73
Long Qt Syndrome 1-2 71
Long Qt Syndrome 2-3 71
Long Qt Syndrome 2-5 71
Long Qt Syndrome 9 71
Long Qt Syndrome-2 13
Lqt1/2 73
Lqt2/3 73
Lqt2/5 73
Lqt2/9 73

Characteristics:

OMIM:

56
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 56 613688
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C2678485 C3150943 C3501851 more

Summaries for Long Qt Syndrome 2

OMIM : 56 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 cardiac conduction defect, 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 Circadian entrainment and Cardiac conduction. The drugs Spironolactone and Cortisone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes 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 : 73 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 : 74 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. It... 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 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 66)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 31.9 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
2 cardiac conduction defect 31.1 SCN5A RYR2 KCNQ1 KCNH2
3 hypokalemia 30.8 KCNQ1 KCNJ5 KCNH2
4 cardiac arrest 30.2 SCN5A RYR2 NOS1AP KCNQ1 KCNH2 CASQ2
5 syncope 30.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
6 atrioventricular block 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
7 familial long qt syndrome 29.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
8 ventricular fibrillation, paroxysmal familial, 1 29.9 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
9 long qt syndrome 3 29.8 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
10 cardiac arrhythmia 29.6 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
11 long qt syndrome 6 29.6 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
12 long qt syndrome 13 29.3 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
13 long qt syndrome 5 29.2 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
14 long qt syndrome 28.1 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
15 long qt syndrome 1 28.1 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
16 familial short qt syndrome 10.4 KCNQ1 KCNJ2 KCNH2
17 long qt syndrome 14 10.4 KCNE1 ANK2
18 right bundle branch block 10.4 SCN5A KCNH2 CACNA1C
19 progressive familial heart block, type ia 10.4 SCN5A ANK2
20 brugada syndrome 3 10.4 KCNE2 CACNA1C ANK2
21 long qt syndrome 15 10.4 KCNE1 CD2AP
22 familial periodic paralysis 10.3 SCN5A KCNJ2 CACNA1C
23 ventricular tachycardia, catecholaminergic polymorphic, 2 10.3 RYR2 CASQ2
24 myasthenic syndrome, congenital, 20, presynaptic 10.3 KCNJ2 CD2AP
25 arrhythmogenic right ventricular dysplasia, familial, 12 10.3 RYR2 KCNH2 CD2AP
26 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2 AKAP9
27 atrial standstill 1 10.3 SCN5A RYR2 CAV3
28 anhidrosis, isolated, with normal sweat glands 10.2 RYR2 CACNA1C
29 leopard syndrome 10.2 KCNQ1 KCNH2 CD2AP CACNA1C
30 brugada syndrome 4 10.2 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
31 third-degree atrioventricular block 10.2 SCN5A KCNJ2
32 hypertrophic cardiomyopathy 10.2 SCN5A RYR2 CAV3 CACNA1C
33 sick sinus syndrome 10.2 SNTA1 SCN5A KCNJ2 CACNA1C ANK2
34 hypokalemic periodic paralysis, type 1 10.2 SCN5A KCNJ2 KCNE1 CAV3 CACNA1C
35 coronary artery anomaly 10.2 SCN5A RYR2 KCNJ5 KCNH2
36 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 RYR2 CASQ2
37 ventricular tachycardia, catecholaminergic polymorphic, 3 10.1 RYR2 KCNJ2 CD2AP CASQ2
38 end stage renal failure 10.1
39 cerebrofacial arteriovenous metameric syndrome 10.1
40 malignant hyperthermia 10.1 SCN5A RYR2 CAV3 CASQ2 CACNA1C
41 cardiomyopathy, dilated, 3b 10.0 SCN5A CAV3
42 congestive heart failure 10.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNE2 CACNA1C
43 arrhythmogenic right ventricular cardiomyopathy 10.0 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
44 wolff-parkinson-white syndrome 10.0 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
45 sudden infant death syndrome 9.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
46 diarrhea 9.9
47 sinoatrial node disease 9.9 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
48 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CD2AP
49 myasthenic syndrome, congenital, 5 9.7 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
50 long qt syndrome 12 9.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

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:

56
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM:

613688

UMLS symptoms related to Long Qt Syndrome 2:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 ALG10 CACNA1C CASQ2 CAV3 CD2AP FBXW7
2 homeostasis/metabolism MP:0005376 9.73 ALG10 CACNA1C CASQ2 CAV3 CD2AP FBXW7
3 muscle MP:0005369 9.28 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved 1952-01-7, 52-01-7 5833
2
Cortisone Experimental 53-06-5 222786
3 Anti-Inflammatory Agents
4 Neurotransmitter Agents
5 Adrenergic Antagonists
6 Natriuretic Agents
7 Adrenergic beta-Antagonists
8 Hormone Antagonists
9 Mineralocorticoids
10 Mineralocorticoid Receptor Antagonists
11 Adrenergic Agents
12 Diuretics, Potassium Sparing
13 Hormones
14 diuretics

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 Influence of Cortisone on QTc-interval Unknown status NCT03082339
3 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
4 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death Recruiting NCT03387072

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, Testes, Eye, Brain

Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

(show top 50) (show all 515)
# Title Authors PMID Year
1
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 61 56 6
15840476 2005
2
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 61 56 6
7889573 1995
3
Modelling the long QT syndrome with induced pluripotent stem cells. 56 6
21240260 2011
4
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 56 6
18551196 2008
5
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 56 6
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. 56 6
15280551 2004
7
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56 6
10220144 1999
8
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 56 6
9694858 1998
9
Identification of the gene causing long QT syndrome in an Israeli family. 61 6
19070294 2008
10
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. 61 6
15760896 2005
11
Long QT Syndrome 61 6
20301308 2003
12
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus. 61 6
12021266 2002
13
Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. 61 56
12070109 2002
14
Unique topographical distribution of M cells underlies reentrant mechanism of torsade de pointes in the long-QT syndrome. 61 56
11889021 2002
15
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 56
11854117 2002
16
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. 61 6
10996323 2000
17
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 61 6
10753933 2000
18
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 61 56
9753711 1998
19
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
20
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
21
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
22
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
23
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
24
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 6
17275750 2007
25
Female predominance and transmission distortion in the long-QT syndrome. 56
17192539 2006
26
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 6
17060380 2006
27
Molecular ablation of ventricular tachycardia after myocardial infarction. 56
17072309 2006
28
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. 6
16823764 2006
29
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 6
16361248 2006
30
Genetics of acquired long QT syndrome. 56
16075043 2005
31
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
32
Compound mutations: a common cause of severe long-QT syndrome. 6
15051636 2004
33
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 6
14760488 2004
34
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 6
12621127 2003
35
Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia. 56
12612061 2003
36
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. 6
12354768 2002
37
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 6
11997281 2002
38
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 6
10973849 2000
39
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 6
10735633 2000
40
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 6
10086971 1999
41
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. 56
9927398 1999
42
Low penetrance in the long-QT syndrome: clinical impact. 56
9927399 1999
43
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. 56
9950666 1999
44
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 6
9600240 1998
45
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 6
9024139 1997
46
The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression. 6
8995352 1997
47
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 6
8914737 1996
48
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. 6
8899564 1996
49
Missense mutation in the pore region of HERG causes familial long QT syndrome. 6
8635257 1996
50
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 6
8528244 1996

Variations for Long Qt Syndrome 2

ClinVar genetic disease variations for Long Qt Syndrome 2:

6 (show top 50) (show all 127) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)SNV Conflicting interpretations of pathogenicity, other, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
2 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=)SNV Pathogenic 3135 rs1800171 11:2604775-2604775 11:2583545-2583545
3 KCNH2 NM_172056.2(KCNH2):c.193A>C (p.Thr65Pro)SNV Pathogenic 14434 rs121912511 7:150671913-150671913 7:150974825-150974825
4 KCNH2 NM_172057.2(KCNH2):c.1562A>T (p.Asn521Ile)SNV Pathogenic 14440 rs121912513 7:150645954-150645954 7:150948866-150948866
5 KCNH2 NM_172056.2(KCNH2):c.1672G>C (p.Ala558Pro)SNV Pathogenic 14444 rs121912516 7:150648809-150648809 7:150951721-150951721
6 KCNH2 NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val)SNV Pathogenic 29777 rs199472944 7:150648640-150648640 7:150951552-150951552
7 KCNH2 NM_172056.2(KCNH2):c.1831T>C (p.Tyr611His)SNV Pathogenic 29778 rs199472942 7:150648650-150648650 7:150951562-150951562
8 KCNH2 NM_172056.2(KCNH2):c.1655T>C (p.Leu552Ser)SNV Pathogenic 67225 rs199472918 7:150648826-150648826 7:150951738-150951738
9 KCNH2 NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser)SNV Pathogenic 67248 rs9333649 7:150648767-150648767 7:150951679-150951679
10 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser)SNV Pathogenic 67315 rs199472957 7:150648595-150648595 7:150951507-150951507
11 KCNH2 NM_172056.2(KCNH2):c.1920C>A (p.Phe640Leu)SNV Pathogenic 67336 rs199472970 7:150648561-150648561 7:150951473-150951473
12 KCNH2 NM_172056.2(KCNH2):c.656A>T (p.Asp219Val)SNV Pathogenic 157662 rs587777907 7:150655407-150655407 7:150958319-150958319
13 KCNH2 NM_172056.2(KCNH2):c.2230C>T (p.Arg744Ter)SNV Pathogenic 180383 rs189014161 7:150647424-150647424 7:150950336-150950336
14 KCNH2 NM_172057.2(KCNH2):c.1755dup (p.Pro586fs)duplication Pathogenic 200672 rs794728455 7:150644883-150644884 7:150947795-150947796
15 KCNH2 NM_172057.2(KCNH2):c.1436del (p.Asn479fs)deletion Pathogenic 200654 rs794728446 7:150646080-150646080 7:150948992-150948992
16 KCNH2 NM_172056.2(KCNH2):c.2399G>C (p.Gly800Ala)SNV Pathogenic 200444 rs794728391 7:150647255-150647255 7:150950167-150950167
17 KCNH2 NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter)SNV Pathogenic 200407 rs794728382 7:150648050-150648050 7:150950962-150950962
18 KCNH2 NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter)SNV Pathogenic 180379 rs730880116 7:150655378-150655378 7:150958290-150958290
19 KCNH2 NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del)deletion Pathogenic 200638 rs794728438 7:150649546-150649572 7:150952458-150952484
20 KCNH2 NM_172056.2(KCNH2):c.678del (p.Ala228fs)deletion Pathogenic 200783 rs794728496 7:150655385-150655385 7:150958297-150958297
21 KCNH2 NM_172056.2(KCNH2):c.453del (p.Thr152fs)deletion Pathogenic 200598 rs761863251 7:150656679-150656679 7:150959591-150959591
22 KCNH2 NM_172056.2(KCNH2):c.1786C>G (p.Pro596Ala)SNV Pathogenic 218093 rs863225288 7:150648695-150648695 7:150951607-150951607
23 KCNH2 NM_172056.2(KCNH2):c.1408A>G (p.Asn470Asp)SNV Pathogenic 14421 rs121912505 7:150649662-150649662 7:150952574-150952574
24 KCNH2 NM_172056.2(KCNH2):c.1778T>G (p.Ile593Arg)SNV Pathogenic 14423 rs28928904 7:150648703-150648703 7:150951615-150951615
25 KCNH2 NM_172057.2(KCNH2):c.1444G>A (p.Val482Met)SNV Pathogenic 14424 rs121912506 7:150646072-150646072 7:150948984-150948984
26 KCNH2 NM_172056.2(KCNH2):c.1261del (p.Thr421fs)deletion Pathogenic 14426 rs1554426258 7:150649809-150649809 7:150952721-150952721
27 KCNH2 NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser)SNV Pathogenic 14427 rs121912507 7:150648599-150648599 7:150951511-150951511
28 KCNH2 NM_172056.2(KCNH2):c.1744C>T (p.Arg582Cys)SNV Pathogenic 14428 rs121912508 7:150648737-150648737 7:150951649-150951649
29 KCNH2 NM_172056.2(KCNH2):c.1714G>C (p.Gly572Arg)SNV Pathogenic 14429 rs9333649 7:150648767-150648767 7:150951679-150951679
30 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr)SNV Pathogenic 14430 rs28928905 7:150649602-150649602 7:150952514-150952514
31 KCNH2 NM_172057.2(KCNH2):c.1983G>A (p.Trp661Ter)SNV Pathogenic 14431 rs121912509 7:150644565-150644565 7:150947477-150947477
32 KCNH2 NM_172056.2(KCNH2):c.2038del (p.Val680fs)deletion Pathogenic 427944 rs1554425498 7:150648116-150648116 7:150951028-150951028
33 KCNH2 NM_172057.2(KCNH2):c.1915_1919del (p.Lys639fs)deletion Pathogenic 431036 rs1131692327 7:150644720-150644724 7:150947632-150947636
34 KCNH2 NM_172057.2(KCNH2):c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG (p.Ala650_Phe651insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)duplication Pathogenic 431374 rs1554424099 7:150644479-150644753 7:150947389-150947390
35 KCNH2 NM_172057.2(KCNH2):c.2182C>T (p.Gln728Ter)SNV Pathogenic 446417 rs1554423863 7:150644093-150644093 7:150947005-150947005
36 KCNH2 NM_172056.2(KCNH2):c.2400T>A (p.Gly800=)SNV Pathogenic 560686 rs1563152963 7:150647254-150647254 7:150950166-150950166
37 KCNH2 NM_172056.2(KCNH2):c.1848C>G (p.Tyr616Ter)SNV Pathogenic 560696 rs1563156868 7:150648633-150648633 7:150951545-150951545
38 KCNH2 NM_172057.2(KCNH2):c.1685del (p.Pro562fs)deletion Pathogenic 598783 rs1563148264 7:150644954-150644954 7:150947866-150947866
39 KCNH2 NM_000238.4(KCNH2):c.46del (p.Asp16fs)deletion Pathogenic 638156 7:150674956-150674956 7:150977868-150977868
40 KCNH2 NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs)duplication Pathogenic 692257 7:150644465-150644466 7:150947377-150947378
41 KCNH2 NM_000238.4(KCNH2):c.2616dup (p.Gly873fs)duplication Pathogenic 692259 7:150645607-150645608 7:150948519-150948520
42 KCNH2 NM_000238.4(KCNH2):c.232_250del (p.Ala78fs)deletion Pathogenic 692260 7:150671856-150671874 7:150974768-150974786
43 KCNH2 NM_000238.4(KCNH2):c.1557+2T>CSNV Pathogenic 695023 7:150649511-150649511 7:150952423-150952423
44 KCNH2 NM_172057.2(KCNH2):c.2088dup (p.Asp697fs)duplication Pathogenic 637977 7:150644459-150644460 7:150947371-150947372
45 KCNH2 NM_172057.2(KCNH2):c.1433C>T (p.Ser478Leu)SNV Pathogenic/Likely pathogenic 14432 rs121912510 7:150646083-150646083 7:150948995-150948995
46 KCNH2 NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser)SNV Pathogenic/Likely pathogenic 67323 rs199472961 7:150648583-150648583 7:150951495-150951495
47 KCNH2 NM_172056.2(KCNH2):c.2320G>T (p.Asp774Tyr)SNV Pathogenic/Likely pathogenic 67385 rs199472995 7:150647334-150647334 7:150950246-150950246
48 KCNH2 NM_172057.2(KCNH2):c.1489G>A (p.Asp497Asn)SNV Pathogenic/Likely pathogenic 67405 rs199473005 7:150646027-150646027 7:150948939-150948939
49 KCNH2 NM_172057.2(KCNH2):c.1490A>G (p.Asp497Gly)SNV Pathogenic/Likely pathogenic 67407 rs199473004 7:150646026-150646026 7:150948938-150948938
50 KCNH2 NM_172056.2(KCNH2):c.1750G>A (p.Gly584Ser)SNV Pathogenic/Likely pathogenic 67261 rs199473428 7:150648731-150648731 7:150951643-150951643

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

73 (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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 RYR2 NOS1AP KCNQ1 KCNJ5 KCNJ2 CACNA1C
2
Show member pathways
12.42 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
3
Show member pathways
12.34 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CACNA1C
4
Show member pathways
12.31 RYR2 KCNJ5 CASQ2 CACNA1C
5 12.28 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
6
Show member pathways
12.27 RYR2 KCNJ5 KCNJ2 CACNA1C
7 12.07 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
8
Show member pathways
11.95 KCNQ1 KCNJ5 KCNJ2 KCNH2
9
Show member pathways
11.81 SCN5A SCN4B ANK2
10 11.61 RYR2 CASQ2 CACNA1C
11
Show member pathways
11.57 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
12 11.15 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
13 11.11 SCN5A SCN4B ANK2
14 10.86 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 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.45 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
2 integral component of membrane GO:0016021 10.35 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
3 plasma membrane GO:0005886 10.24 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
4 endoplasmic reticulum GO:0005783 10.11 SCN5A KCNQ1 KCNE2 FBXW7 CAV3 ALG10B
5 cell GO:0005623 10 RYR2 KCNJ2 FBXW7 CAV3 CASQ2 CACNA1C
6 cell surface GO:0009986 9.98 SCN5A KCNH2 KCNE2 KCNE1 CAV3
7 membrane raft GO:0045121 9.81 KCNQ1 KCNE1 CAV3 ANK2
8 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 NOS1AP CAV3 CACNA1C
9 intercalated disc GO:0014704 9.72 SCN5A SCN4B KCNJ2 CAV3 ANK2
10 voltage-gated potassium channel complex GO:0008076 9.7 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
11 caveola GO:0005901 9.67 SCN5A NOS1AP CAV3
12 sarcoplasmic reticulum membrane GO:0033017 9.61 RYR2 NOS1AP CASQ2
13 dystrophin-associated glycoprotein complex GO:0016010 9.56 SNTA1 CAV3
14 Z disc GO:0030018 9.56 SCN5A RYR2 NOS1AP KCNE1 CAV3 CASQ2
15 voltage-gated sodium channel complex GO:0001518 9.55 SCN5A SCN4B
16 L-type voltage-gated calcium channel complex GO:1990454 9.52 NOS1AP CACNA1C
17 junctional sarcoplasmic reticulum membrane GO:0014701 9.48 RYR2 CASQ2
18 inward rectifier potassium channel complex GO:1902937 9.4 NOS1AP KCNH2
19 T-tubule GO:0030315 9.17 SCN5A NOS1AP KCNJ5 KCNJ2 CAV3 CACNA1C

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.22 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
2 transmembrane transport GO:0055085 10.13 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 10.05 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
4 regulation of ion transmembrane transport GO:0034765 10.02 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
5 potassium ion transmembrane transport GO:0071805 10 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 cardiac muscle contraction GO:0060048 9.99 SCN5A SCN4B RYR2 KCNQ1 KCNH2 CASQ2
7 regulation of heart rate GO:0002027 9.93 SNTA1 SCN5A RYR2 CAV3 CASQ2 ANK2
8 potassium ion import across plasma membrane GO:1990573 9.89 KCNJ5 KCNJ2 KCNH2 KCNE2
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.89 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
10 cellular response to drug GO:0035690 9.88 KCNQ1 KCNH2 KCNE2
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.88 RYR2 CASQ2 CACNA1C ANK2
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.88 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.88 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
14 potassium ion export across plasma membrane GO:0097623 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.86 SCN5A SCN4B KCNJ2 CACNA1C
16 cardiac conduction GO:0061337 9.86 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
17 cellular response to cAMP GO:0071320 9.85 KCNQ1 KCNE1 AKAP9
18 membrane repolarization GO:0086009 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
19 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
20 membrane repolarization during action potential GO:0086011 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
21 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
22 regulation of cardiac muscle contraction GO:0055117 9.8 RYR2 CAV3 ANK2
23 regulation of membrane repolarization GO:0060306 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2 AKAP9
24 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNH2 KCNE2 KCNE1
25 regulation of cardiac muscle cell contraction GO:0086004 9.79 SCN5A KCNJ2 ANK2
26 atrial cardiac muscle cell action potential GO:0086014 9.77 SCN5A KCNQ1 ANK2
27 regulation of sodium ion transmembrane transporter activity GO:2000649 9.73 SCN4B CAV3
28 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.73 FBXW7 CAV3
29 positive regulation of proteasomal protein catabolic process GO:1901800 9.73 KCNE2 FBXW7
30 membrane depolarization during action potential GO:0086010 9.72 SCN5A KCNH2
31 positive regulation of sodium ion transport GO:0010765 9.72 SCN5A SCN4B
32 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE2 KCNE1
33 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
34 calcium ion transport into cytosol GO:0060402 9.72 RYR2 CACNA1C
35 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.71 ALG10B ALG10
36 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
37 detection of calcium ion GO:0005513 9.71 RYR2 CASQ2
38 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
39 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.71 RYR2 CACNA1C
40 cellular response to caffeine GO:0071313 9.7 RYR2 CASQ2
41 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
42 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.7 CAV3 CASQ2
43 regulation of heart rate by cardiac conduction GO:0086091 9.7 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
44 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.69 CAV3 AKAP9
45 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.69 SCN5A CAV3
46 T-tubule organization GO:0033292 9.69 CAV3 ANK2
47 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.68 RYR2 ANK2
48 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
49 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.68 ANK2 AKAP9
50 SA node cell action potential GO:0086015 9.67 SCN5A ANK2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.85 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.84 SCN5A RYR2 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2
5 potassium channel regulator activity GO:0015459 9.74 KCNE2 KCNE1 AKAP9
6 voltage-gated potassium channel activity GO:0005249 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
7 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
8 sodium channel regulator activity GO:0017080 9.7 SNTA1 SCN4B CAV3
9 protein kinase A regulatory subunit binding GO:0034237 9.67 RYR2 KCNQ1 AKAP9
10 inward rectifier potassium channel activity GO:0005242 9.67 KCNJ5 KCNJ2 KCNH2 KCNE2
11 nitric-oxide synthase binding GO:0050998 9.62 SNTA1 SCN5A NOS1AP CAV3
12 protein kinase A catalytic subunit binding GO:0034236 9.59 RYR2 KCNQ1
13 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN5A SCN4B
14 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.56 KCNQ1 KCNJ5
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
16 voltage-gated ion channel activity GO:0005244 9.56 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
17 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.55 ALG10B ALG10
18 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
19 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity GO:0106073 9.51 ALG10B ALG10
20 ion channel binding GO:0044325 9.32 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2

Sources for Long Qt Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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