LQT6
MCID: LNG051
MIFTS: 45

Long Qt Syndrome 6 (LQT6)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 57 11 19 73 28 5 43 14 71
Lqt6 57 11 19 73
Long Qt Syndrome 6, Acquired, Susceptibility to 5
Susceptibility to Acquired Long Qt Syndrome 6 73
Qt Syndrome, Long, Type 6 38
Long Qt Syndrome 3/6 73
Long Qt Syndrome 3-6 71
Long Qt Syndrome-6 12
Lqt3/6 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
association of cardiac events with exercise
gei (gene-environment interaction) - association of cardiac events with drug administration
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene


Classifications:



External Ids:

Disease Ontology 11 DOID:0110648
OMIM® 57 613693
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
UMLS 71 C3150953 C3501836

Summaries for Long Qt Syndrome 6

GARD: 19 Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

MalaCards based summary: Long Qt Syndrome 6, also known as lqt6, is related to brugada syndrome 3 and second-degree atrioventricular block, and has symptoms including syncope An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart and heart-ventricle, and related phenotypes are cardiac arrest and ventricular fibrillation

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). (613693) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

Related Diseases for Long Qt Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 3 10.1 KCNE2 ANK2
2 second-degree atrioventricular block 10.1 SCN5A KCNH2
3 diamond-blackfan anemia 3 10.1 SCN5A KCNH2
4 progressive familial heart block 10.1 SCN5A KCNQ1
5 trichothiodystrophy 7, nonphotosensitive 10.1 SCN5A KCNH2
6 brugada syndrome 1 10.1 SCN5A KCNH2
7 cardiac conduction defect 10.1 SCN5A KCNQ1
8 benign familial neonatal epilepsy 10.1 KCNQ1 KCNE1
9 progressive familial heart block, type ia 10.0 SCN5A ANK2
10 right bundle branch block 10.0 SCN5A KCNH2
11 deafness, autosomal recessive 98 10.0 KCNQ1 KCNE2 KCNE1
12 familial periodic paralysis 10.0 SCN5A KCNJ2
13 ventricular tachycardia, catecholaminergic polymorphic, 3 10.0 KCNJ2 ANK2
14 sick sinus syndrome 10.0 SCN5A KCNE1
15 paramyotonia congenita of von eulenburg 10.0 SCN5A KCNJ2
16 syncope 9.9 SCN5A KCNQ1 KCNH2
17 developmental and epileptic encephalopathy 14 9.9 SCN5A KCNQ1 KCNH2
18 noonan syndrome with multiple lentigines 9.9 SCN5A KCNQ1 KCNH2
19 wolff-parkinson-white syndrome 9.9 SCN5A KCNQ1 KCNH2
20 cardiac arrest 9.9 SCN5A KCNQ1 KCNH2
21 gingival fibromatosis 9.9 KCNQ1 KCNE2
22 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2
23 familial short qt syndrome 9.9 KCNQ1 KCNJ2 KCNH2
24 first-degree atrioventricular block 9.9 SCN5A KCNJ2 KCNH2
25 cardiomyopathy, dilated, 3b 9.9 SNTA1 CAV3
26 rasopathy 9.9 SCN5A KCNQ1 KCNH2
27 familial long qt syndrome 9.8 SCN5A KCNQ1 KCNH2 KCNE1
28 paroxysmal extreme pain disorder 9.8 SCN5A SCN4B
29 muscular dystrophy, becker type 9.7 SNTA1 CAV3
30 arrhythmogenic right ventricular cardiomyopathy 9.7 SCN5A KCNQ1 KCNH2 ANK2
31 congestive heart failure 9.7 SCN5A KCNQ1 KCNJ2 KCNE2
32 brugada syndrome 4 9.7 SCN5A KCNQ1 KCNJ2 KCNH2
33 cardiomyopathy, familial hypertrophic, 1 9.7 SCN5A KCNQ1 KCNH2 CAV3
34 generalized epilepsy with febrile seizures plus 9.6 SCN5A SCN4B ANK2
35 ventricular fibrillation, paroxysmal familial, 1 9.6 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
36 erythromelalgia 9.5 SCN5A SCN4B
37 lipoprotein quantitative trait locus 9.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
38 atrioventricular block 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
39 long qt syndrome 15 9.4 SNTA1 SCN4B KCNJ2 KCNH2
40 heart disease 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
41 sinoatrial node disease 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 ANK2
42 third-degree atrioventricular block 9.2 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
43 hypokalemic periodic paralysis, type 1 9.0 SCN5A SCN4B KCNQ1 KCNJ2 KCNE1 CAV3
44 long qt syndrome 14 9.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
45 sudden infant death syndrome 9.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
46 heart conduction disease 8.8 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
47 short qt syndrome 8.8 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
48 left ventricular noncompaction 8.6 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
49 hypertrophic cardiomyopathy 8.6 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
50 long qt syndrome 11 8.6 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:



Diseases related to Long Qt Syndrome 6

Symptoms & Phenotypes for Long Qt Syndrome 6

Human phenotypes related to Long Qt Syndrome 6:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiac arrest 30 Very rare (1%) HP:0001695
2 ventricular fibrillation 30 Very rare (1%) HP:0001663
3 prolonged qtc interval 30 Very rare (1%) HP:0005184
4 torsade de pointes 30 Very rare (1%) HP:0001664
5 sudden cardiac death 30 HP:0001645
6 prolonged qt interval 30 HP:0001657
7 syncope 30 HP:0001279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

613693 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.76 ANK2 CAV3 KCNE1 KCNH2 KCNJ2 KCNQ1
2 growth/size/body region MP:0005378 9.56 ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2
3 cardiovascular system MP:0005385 9.17 ANK2 CAV3 KCNE1 KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Long Qt Syndrome 6

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 6

Cochrane evidence based reviews: long qt syndrome 6

Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 6 28 KCNE2

Anatomical Context for Long Qt Syndrome 6

Organs/tissues related to Long Qt Syndrome 6:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 6

Articles related to Long Qt Syndrome 6:

(show all 27)
# Title Authors PMID Year
1
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 57 5
10219239 1999
2
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 57
15840476 2005
3
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 62 5
14661677 2003
4
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57
16922724 2006
5
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 5
15368194 2004
6
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 57
10973849 2000
7
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
8
Interaction between electrical storm and left ventricular ejection fraction as predictors of mortality in patients with implantable cardioverter defibrillator: A Chinese cohort study. 62
35966539 2022
9
Sodium channel blockers in the management of long QT syndrome types 3 and 2: A system review and meta-analysis. 62
34427958 2021
10
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? 62
28794082 2017
11
KCNE2 modulates cardiac L-type Ca(2+) channel. 62
24681347 2014
12
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 62
19716085 2009
13
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. 62
17222736 2007
14
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 62
16818210 2006
15
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 62
16818214 2006
16
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 62
16253912 2005
17
Single nucleotide polymorphism map of five long-QT genes. 62
15599693 2005
18
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 62
15466642 2004
19
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. 62
15242738 2004
20
KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts. 62
15066947 2004
21
Analysis of candidate genes for genotypic diagnosis in the long QT syndrome. 62
15306731 2004
22
[Value of genetic testing in the management of the congenital long QT syndrome]. 62
12838849 2003
23
[Inborn long QT-syndrome in childhood: clinical presentation and treatment]. 62
24535447 2002
24
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 62
11104743 2000
25
The long QT syndromes: genetic basis and clinical implications. 62
10898405 2000
26
Cardiac K+ channels and drug-acquired long QT syndrome. 62
10860023 2000
27
Long QT syndromes and torsade de pointes. 62
10560690 1999

Variations for Long Qt Syndrome 6

ClinVar genetic disease variations for Long Qt Syndrome 6:

5 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE2 NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) SNV Benign; Risk Factor
6053 rs74315447 GRCh37: 21:35742938-35742938
GRCh38: 21:34370639-34370639
2 KCNE2 NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) SNV Likely Pathogenic
Likely Benign
6055 rs74315449 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557
3 KCNE2 NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) SNV Risk Factor
Benign
6052 rs16991652 GRCh37: 21:35742802-35742802
GRCh38: 21:34370503-34370503
4 KCNE2 NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) SNV Conflicting Interpretations Of Pathogenicity
67615 rs2234916 GRCh37: 21:35742799-35742799
GRCh38: 21:34370500-34370500
5 KCNE2 NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) SNV Conflicting Interpretations Of Pathogenicity
67620 rs199473367 GRCh37: 21:35743124-35743124
GRCh38: 21:34370825-34370825
6 KCNE2 NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) SNV Conflicting Interpretations Of Pathogenicity
6054 rs74315448 GRCh37: 21:35742947-35742947
GRCh38: 21:34370648-34370648
7 KCNE2 NM_172201.2(KCNE2):c.153G>T (p.Leu51=) SNV Conflicting Interpretations Of Pathogenicity
339718 rs143767851 GRCh37: 21:35742930-35742930
GRCh38: 21:34370631-34370631
8 KCNE2 NM_172201.2(KCNE2):c.*62G>A SNV Uncertain Significance
339719 rs72550218 GRCh37: 21:35743211-35743211
GRCh38: 21:34370912-34370912
9 KCNE2 NM_172201.2(KCNE2):c.-13+5G>A SNV Uncertain Significance
190793 rs786205806 GRCh37: 21:35736455-35736455
GRCh38: 21:34364156-34364156
10 KCNE2 NM_172201.2(KCNE2):c.193G>A (p.Val65Met) SNV Uncertain Significance
67611 rs199473364 GRCh37: 21:35742970-35742970
GRCh38: 21:34370671-34370671
11 KCNE2 NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile) SNV Uncertain Significance
1721226 GRCh37: 21:35742863-35742863
GRCh38: 21:34370564-34370564
12 KCNE2 NM_172201.2(KCNE2):c.250T>C (p.Tyr84His) SNV Uncertain Significance
1470610 GRCh37: 21:35743027-35743027
GRCh38: 21:34370728-34370728
13 KCNE2 NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile) SNV Uncertain Significance
1485015 GRCh37: 21:35742866-35742866
GRCh38: 21:34370567-34370567
14 KCNE2 NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) SNV Uncertain Significance
191164 rs751931568 GRCh37: 21:35742986-35742986
GRCh38: 21:34370687-34370687
15 KCNE2 NM_172201.2(KCNE2):c.193G>C (p.Val65Leu) SNV Uncertain Significance
67612 rs199473364 GRCh37: 21:35742970-35742970
GRCh38: 21:34370671-34370671
16 KCNE2 NM_172201.2(KCNE2):c.-80C>T SNV Uncertain Significance
339715 rs566735365 GRCh37: 21:35736383-35736383
GRCh38: 21:34364084-34364084
17 overlap with 6 genes NC_000021.8:g.(?_35742772)_(36421202_?)del DEL Uncertain Significance
584413 GRCh37: 21:35742772-36421202
GRCh38:
18 KCNE2 NM_172201.2(KCNE2):c.*234G>A SNV Uncertain Significance
899357 rs981526333 GRCh37: 21:35743383-35743383
GRCh38: 21:34371084-34371084
19 KCNE2 NC_000021.8:g.(?_35742768)_(35743160_?)del DEL Uncertain Significance
1017741 GRCh37: 21:35742768-35743160
GRCh38:
20 overlap with 3 genes NC_000021.8:g.(?_35736455)_(35821942_?)dup DUP Uncertain Significance
666218 GRCh37: 21:35736455-35821942
GRCh38:
21 KCNE2 NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) SNV Uncertain Significance
1217300 GRCh37: 21:35742790-35742790
GRCh38: 21:34370491-34370491
22 KCNE2 NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser) SNV Uncertain Significance
1172865 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557
23 KCNE2 NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs) DUP Uncertain Significance
1355597 GRCh37: 21:35743120-35743121
GRCh38: 21:34370821-34370822
24 KCNE2 NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro) SNV Uncertain Significance
1469989 GRCh37: 21:35743015-35743015
GRCh38: 21:34370716-34370716
25 KCNE2 NM_172201.2(KCNE2):c.144dup (p.Val49fs) DUP Uncertain Significance
1475863 GRCh37: 21:35742920-35742921
GRCh38: 21:34370621-34370622
26 KCNE2 NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala) SNV Uncertain Significance
1684620 GRCh37: 21:35743024-35743024
GRCh38: 21:34370725-34370725
27 KCNE2 NM_172201.2(KCNE2):c.122T>C (p.Val41Ala) SNV Uncertain Significance
577399 rs1273269997 GRCh37: 21:35742899-35742899
GRCh38: 21:34370600-34370600
28 KCNE2 NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg) SNV Uncertain Significance
692254 rs1196937368 GRCh37: 21:35743071-35743071
GRCh38: 21:34370772-34370772
29 KCNE2 NM_172201.2(KCNE2):c.171T>G (p.Ile57Met) SNV Uncertain Significance
846911 rs146053586 GRCh37: 21:35742948-35742948
GRCh38: 21:34370649-34370649
30 KCNE2 NM_172201.2(KCNE2):c.160A>G (p.Met54Val) SNV Uncertain Significance
938947 rs371724328 GRCh37: 21:35742937-35742937
GRCh38: 21:34370638-34370638
31 KCNE2 NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) SNV Uncertain Significance
1005300 rs1979545359 GRCh37: 21:35742998-35742998
GRCh38: 21:34370699-34370699
32 KCNE2 NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) SNV Uncertain Significance
1008832 rs1979560748 GRCh37: 21:35743142-35743142
GRCh38: 21:34370843-34370843
33 KCNE2 NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) SNV Uncertain Significance
1010050 rs746625998 GRCh37: 21:35743144-35743144
GRCh38: 21:34370845-34370845
34 KCNE2 NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn) SNV Uncertain Significance
1020116 rs1333677285 GRCh37: 21:35743070-35743070
GRCh38: 21:34370771-34370771
35 KCNE2 NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) SNV Uncertain Significance
1003090 rs1349032678 GRCh37: 21:35743121-35743121
GRCh38: 21:34370822-34370822
36 KCNE2 NM_172201.2(KCNE2):c.*61C>T SNV Uncertain Significance
898250 rs551483595 GRCh37: 21:35743210-35743210
GRCh38: 21:34370911-34370911
37 KCNE2 NM_172201.2(KCNE2):c.*11A>C SNV Uncertain Significance
898249 rs558860396 GRCh37: 21:35743160-35743160
GRCh38: 21:34370861-34370861
38 KCNE2 NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) SNV Uncertain Significance
898248 rs16991654 GRCh37: 21:35742955-35742955
GRCh38: 21:34370656-34370656
39 KCNE2 NM_172201.2(KCNE2):c.2T>C (p.Met1Thr) SNV Uncertain Significance
659161 rs867658122 GRCh37: 21:35742779-35742779
GRCh38: 21:34370480-34370480
40 KCNE2 NM_172201.2(KCNE2):c.*240G>C SNV Uncertain Significance
339720 rs773295544 GRCh37: 21:35743389-35743389
GRCh38: 21:34371090-34371090
41 KCNE2 NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) SNV Uncertain Significance
191467 rs139202426 GRCh37: 21:35743134-35743134
GRCh38: 21:34370835-34370835
42 KCNE2 NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) SNV Uncertain Significance
67613 rs16991656 GRCh37: 21:35742974-35742974
GRCh38: 21:34370675-34370675
43 KCNE2 NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr) SNV Uncertain Significance
1390131 GRCh37: 21:35743123-35743123
GRCh38: 21:34370824-34370824
44 KCNE2 NM_172201.2(KCNE2):c.190A>G (p.Ile64Val) SNV Uncertain Significance
471499 rs1555837082 GRCh37: 21:35742967-35742967
GRCh38: 21:34370668-34370668
45 KCNE2 NM_172201.2(KCNE2):c.204G>A (p.Leu68=) SNV Uncertain Significance
538876 rs200403369 GRCh37: 21:35742981-35742981
GRCh38: 21:34370682-34370682
46 KCNE2 NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) SNV Uncertain Significance
560697 rs747045005 GRCh37: 21:35742844-35742844
GRCh38: 21:34370545-34370545
47 KCNE2 NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) DEL Uncertain Significance
190797 rs45610936 GRCh37: 21:35743146-35743147
GRCh38: 21:34370847-34370848
48 KCNE2 NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) SNV Uncertain Significance
895204 rs776661633 GRCh37: 21:35742794-35742794
GRCh38: 21:34370495-34370495
49 KCNE2 NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) SNV Uncertain Significance
955646 rs1305783893 GRCh37: 21:35743149-35743149
GRCh38: 21:34370850-34370850
50 KCNE2 NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) SNV Uncertain Significance
956020 rs1434304789 GRCh37: 21:35743019-35743019
GRCh38: 21:34370720-34370720

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

73
# Symbol AA change Variation ID SNP ID
1 KCNE2 p.Met54Thr VAR_008377 rs74315447
2 KCNE2 p.Ile57Thr VAR_008378 rs74315448
3 KCNE2 p.Val65Met VAR_015063 rs199473364
4 KCNE2 p.Arg77Trp VAR_035386 rs141423405

Expression for Long Qt Syndrome 6

Search GEO for disease gene expression data for Long Qt Syndrome 6.

Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2 12.01 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
3
Show member pathways
11.89 SCN5A SCN4B ANK2
4 11.83 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
5
Show member pathways
11.78 KCNQ1 KCNJ2 KCNH2
6 11.04 SCN5A SCN4B ANK2
7 10.99 SCN5A SCN4B
8 10.97 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
9 10.61 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.52 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 membrane GO:0016021 10.52 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
3 plasma membrane GO:0005886 10.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
4 plasma membrane GO:0005887 10.5 KCNJ2 KCNH2 CAV3
5 lysosome GO:0005764 10.11 KCNQ1 KCNE2 KCNE1 ANK2
6 cell surface GO:0009986 10.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
7 membrane raft GO:0045121 10.03 ANK2 CAV3 KCNE1 KCNQ1
8 Z disc GO:0030018 9.97 SCN5A KCNE1 CAV3 ANK2
9 sarcolemma GO:0042383 9.86 ANK2 CAV3 SCN5A SNTA1
10 voltage-gated sodium channel complex GO:0001518 9.8 SCN4B SCN5A
11 lateral plasma membrane GO:0016328 9.8 SNTA1 SCN5A KCNQ1
12 dystrophin-associated glycoprotein complex GO:0016010 9.78 SNTA1 CAV3
13 T-tubule GO:0030315 9.76 SCN5A KCNJ2 CAV3 ANK2
14 voltage-gated potassium channel complex GO:0008076 9.65 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
15 intercalated disc GO:0014704 9.32 SCN5A SCN4B KCNJ2 CAV3 ANK2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.28 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2 potassium ion import across plasma membrane GO:1990573 10.18 KCNQ1 KCNJ2 KCNH2 KCNE2
3 cardiac muscle contraction GO:0060048 10.17 SCN5A SCN4B KCNQ1 KCNH2
4 cellular response to xenobiotic stimulus GO:0071466 10.13 KCNQ1 KCNH2 KCNE2
5 potassium ion export across plasma membrane GO:0097623 10.13 KCNE1 KCNE2 KCNH2 KCNQ1
6 positive regulation of potassium ion transmembrane transport GO:1901381 10.11 KCNE1 KCNH2 KCNJ2 KCNQ1
7 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.1 KCNQ1 KCNH2 KCNE2 KCNE1
8 regulation of potassium ion transmembrane transport GO:1901379 10.09 KCNH2 KCNE2 KCNE1
9 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.09 SCN5A SCN4B KCNJ2
10 regulation of cardiac muscle cell contraction GO:0086004 10.08 SCN5A KCNJ2 ANK2
11 monoatomic ion transport GO:0006811 10.08 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
12 regulation of membrane repolarization GO:0060306 10.08 KCNE2 KCNH2 KCNJ2 KCNQ1
13 sodium ion transport GO:0006814 10.07 SCN5A SCN4B KCNQ1
14 atrial cardiac muscle cell action potential GO:0086014 10.07 ANK2 KCNQ1 SCN5A
15 regulation of heart rate GO:0002027 10.06 SNTA1 SCN5A KCNQ1 CAV3 ANK2
16 ventricular cardiac muscle cell action potential GO:0086005 10.06 KCNE2 KCNE1 CAV3 ANK2 KCNH2 KCNQ1
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.03 KCNQ1 KCNJ2 KCNH2 KCNE1
18 potassium ion transport GO:0006813 10.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
19 cardiac muscle cell action potential involved in contraction GO:0086002 10.02 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
20 negative regulation of delayed rectifier potassium channel activity GO:1902260 10 KCNQ1 KCNE2 KCNE1
21 membrane repolarization GO:0086009 10 KCNE1 KCNE2 KCNH2 KCNQ1
22 potassium ion homeostasis GO:0055075 9.99 KCNQ1 KCNH2
23 regulation of cardiac muscle contraction GO:0055117 9.99 CAV3 ANK2
24 regulation of sodium ion transmembrane transporter activity GO:2000649 9.98 SCN4B CAV3
25 membrane depolarization during action potential GO:0086010 9.98 SCN5A KCNH2
26 positive regulation of sodium ion transport GO:0010765 9.98 SCN5A SCN4B
27 positive regulation of voltage-gated calcium channel activity GO:1901387 9.97 KCNE2 KCNE1
28 negative regulation of potassium ion transmembrane transport GO:1901380 9.97 CAV3 KCNH2
29 regulation of monoatomic ion transmembrane transport GO:0034765 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN4B
30 regulation of sodium ion transmembrane transport GO:1902305 9.96 SNTA1 SCN5A
31 T-tubule organization GO:0033292 9.96 CAV3 ANK2
32 membrane repolarization during action potential GO:0086011 9.96 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.95 KCNE2 KCNE1
34 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.95 SCN5A CAV3
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.94 SCN5A KCNQ1
36 SA node cell action potential GO:0086015 9.94 ANK2 SCN5A
37 membrane depolarization during SA node cell action potential GO:0086046 9.93 ANK2 SCN5A
38 AV node cell action potential GO:0086016 9.93 SCN5A SCN4B
39 regulation of calcium ion transmembrane transporter activity GO:1901019 9.92 CAV3 ANK2
40 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.91 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
41 regulation of calcium ion transport GO:0051924 9.87 CAV3 ANK2
42 negative regulation of voltage-gated potassium channel activity GO:1903817 9.73 KCNQ1 KCNE2 KCNE1
43 regulation of heart rate by cardiac conduction GO:0086091 9.53 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 9.99 SCN5A KCNQ1 KCNH2
2 sodium channel regulator activity GO:0017080 9.95 SNTA1 SCN4B CAV3
3 voltage-gated potassium channel activity GO:0005249 9.95 KCNQ1 KCNH2 KCNE2 KCNE1
4 inward rectifier potassium channel activity GO:0005242 9.93 KCNE2 KCNH2 KCNJ2
5 delayed rectifier potassium channel activity GO:0005251 9.92 KCNE1 KCNE2 KCNH2 KCNQ1
6 nitric-oxide synthase binding GO:0050998 9.91 SNTA1 SCN5A CAV3
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
8 voltage-gated sodium channel activity GO:0005248 9.85 SCN5A SCN4B
9 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.8 SCN5A SCN4B
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.76 KCNQ1 KCNJ2 KCNH2 KCNE1
11 monoatomic ion channel activity GO:0005216 9.7 SCN5A KCNQ1 KCNH2
12 potassium channel activity GO:0005267 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
13 voltage-gated monoatomic ion channel activity GO:0005244 9.61 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN4B
14 sodium channel activity GO:0005272 9.54 SCN5A SCN4B
15 transmembrane transporter binding GO:0044325 9.53 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources for Long Qt Syndrome 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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