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LQT6
MCID: LNG051
MIFTS: 45

Long Qt Syndrome 6 (LQT6)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Long Qt Syndrome 6

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MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 57 12 20 72 29 6 15 70
Lqt6 57 12 20 72
Long Qt Syndrome 6, Acquired, Susceptibility to 6
Susceptibility to Acquired Long Qt Syndrome 6 72
Qt Syndrome, Long, Type 6 39
Long Qt Syndrome 3/6 72
Long Qt Syndrome 3-6 70
Long Qt Syndrome-6 13
Lqt3/6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110648
OMIM® 57 613693
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
UMLS 70 C3150953 C3501836
Sources

Summaries for Long Qt Syndrome 6

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OMIM® : 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613693) (Updated 05-Apr-2021)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to periodic paralysis and progressive familial heart block, type ia, 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 Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Disease Ontology : 12 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

UniProtKB/Swiss-Prot : 72 Long QT syndrome 6: 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.

Sources

Related Diseases for Long Qt Syndrome 6

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Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15
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 75)
# Related Disease Score Top Affiliating Genes
1 periodic paralysis 10.1 KCNJ2 KCNE3
2 progressive familial heart block, type ia 10.1 SCN5A ANK2
3 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
4 properdin deficiency, x-linked 10.1 KCNJ2 KCNH2
5 syncope 10.1 SCN5A KCNQ1 KCNH2
6 first-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
7 brugada syndrome 6 10.1 SCN5A KCNE3
8 third-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
9 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
10 periodic paralyses 10.0 KCNJ2 KCNE3
11 idiopathic ventricular fibrillation, non brugada type 10.0 SCN5A CACNA1C
12 noonan syndrome with multiple lentigines 10.0 SCN5A KCNQ1 KCNH2
13 brugada syndrome 3 10.0 KCNE2 CACNA1C ANK2
14 neuromuscular junction disease 10.0 SCN5A KCNH2 CACNA1C
15 cardiac conduction defect 10.0 SCN5A KCNQ1 CACNA1C
16 long qt syndrome 15 10.0 KCNJ2 KCNE1 CACNA1C
17 vestibular disease 9.9 KCNE3 KCNE1
18 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2 KCNE3
19 brugada syndrome 1 9.9 SCN5A KCNH2 AKAP9
20 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2 KCNE3
21 peripheral vertigo 9.9 KCNE3 KCNE1
22 deafness, autosomal recessive 98 9.9 KCNQ1 KCNE3 KCNE2 KCNE1
23 progressive familial heart block 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
24 isolated elevated serum creatine phosphokinase levels 9.8 SCN5A CAV3 CACNA1C
25 congestive heart failure 9.8 SCN5A KCNQ1 CACNA1C
26 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
27 sick sinus syndrome 9.8 SNTA1 SCN5A CACNA1C ANK2
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
29 meniere disease 9.8 KCNE3 KCNE1
30 chromosome 2q35 duplication syndrome 9.8 KCNQ1 KCNJ2 KCNH2 CACNA1C
31 malignant hyperthermia 9.7 SCN5A KCNH2 CAV3 CACNA1C
32 right bundle branch block 9.7 SCN5A KCNH2 KCNE3 CACNA1C
33 hypokalemia 9.7 KCNQ1 KCNJ5 KCNH2
34 familial periodic paralysis 9.7 SCN5A KCNJ2 KCNE3 CACNA1C
35 long qt syndrome 14 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
36 brugada syndrome 4 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
37 cardiomyopathy, familial hypertrophic, 1 9.7 SCN5A KCNH2 CAV3 CACNA1C
38 cardiac arrest 9.6 SCN5A KCNQ1 KCNH2 ANK2 AKAP9
39 early infantile epileptic encephalopathy 9.6 SCN5A SCN4B KCNQ1 KCNH2 CACNA1C
40 atrioventricular block 9.6 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
41 hypokalemic periodic paralysis, type 1 9.6 SCN5A KCNJ2 KCNE3 KCNE1 CACNA1C
42 sinoatrial node disease 9.5 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C ANK2
43 myasthenic syndrome, congenital, 5 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44 arrhythmogenic right ventricular cardiomyopathy 9.4 SCN5A KCNH2 KCNE1 CACNA1C ANK2 AKAP9
45 left ventricular noncompaction 9.3 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
46 cardiac arrhythmia 9.2 SCN5A KCNQ1 KCNH2 KCNE2 CACNA1C ANK2
47 lipoprotein quantitative trait locus 9.2 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
48 ventricular fibrillation, paroxysmal familial, 1 9.2 SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
49 short qt syndrome 9.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2
50 atrial fibrillation 9.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2

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



Diseases related to Long Qt Syndrome 6
Sources

Symptoms & Phenotypes for Long Qt Syndrome 6

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Human phenotypes related to Long Qt Syndrome 6:

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®:

613693 (Updated 05-Apr-2021)

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 CACNA1C CAV3 KCNE3 KCNH2 KCNJ2 KCNJ5
2 muscle MP:0005369 9.17 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
Sources

Drugs & Therapeutics for Long Qt Syndrome 6

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

Sources

Genetic Tests for Long Qt Syndrome 6

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Genetic tests related to Long Qt Syndrome 6:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 6 29 KCNE2
Sources

Anatomical Context for Long Qt Syndrome 6

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MalaCards organs/tissues related to Long Qt Syndrome 6:

40
Heart
Sources

Publications for Long Qt Syndrome 6

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Articles related to Long Qt Syndrome 6:

(show all 28)
# Title Authors PMID Year
1
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 57
16922724 2006
2
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 57 6
10219239 1999
3
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 57 61
15840476 2005
4
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 6 61
14661677 2003
5
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 6
15368194 2004
6
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 6
15184283 2004
7
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 57
10973849 2000
8
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 6
10772658 2000
9
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
10
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 6
9506831 1998
11
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? 61
28794082 2017
12
KCNE2 modulates cardiac L-type Ca(2+) channel. 61
24681347 2014
13
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 61
19716085 2009
14
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. 61
17222736 2007
15
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 61
16818210 2006
16
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 61
16818214 2006
17
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 61
16253912 2005
18
Single nucleotide polymorphism map of five long-QT genes. 61
15599693 2005
19
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 61
15466642 2004
20
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. 61
15242738 2004
21
KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts. 61
15066947 2004
22
Analysis of candidate genes for genotypic diagnosis in the long QT syndrome. 61
15306731 2004
23
[Value of genetic testing in the management of the congenital long QT syndrome]. 61
12838849 2003
24
[Inborn long QT-syndrome in childhood: clinical presentation and treatment]. 61
24535447 2002
25
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 61
11104743 2000
26
The long QT syndromes: genetic basis and clinical implications. 61
10898405 2000
27
Cardiac K+ channels and drug-acquired long QT syndrome. 61
10860023 2000
28
Long QT syndromes and torsade de pointes. 61
10560690 1999
Sources

Variations for Long Qt Syndrome 6

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ClinVar genetic disease variations for Long Qt Syndrome 6:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE2 NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) SNV Benign, risk factor 6053 rs74315447 GRCh37: 21:35742938-35742938
GRCh38: 21:34370639-34370639
2 SCN5A NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) SNV Pathogenic 9376 rs137854600 GRCh37: 3:38592995-38592995
GRCh38: 3:38551504-38551504
3 KCNE2 NM_172201.1(KCNE2):c.178T>C (p.Phe60Leu) SNV Pathogenic 6056 rs16991654 GRCh37: 21:35742955-35742955
GRCh38: 21:34370656-34370656
4 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) SNV Likely pathogenic 6055 rs74315449 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557
5 KCNE2 NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) SNV risk factor 6052 rs16991652 GRCh37: 21:35742802-35742802
GRCh38: 21:34370503-34370503
6 KCNE2 NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala) SNV Conflicting interpretations of pathogenicity 67615 rs2234916 GRCh37: 21:35742799-35742799
GRCh38: 21:34370500-34370500
7 KCNE2 NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) SNV Conflicting interpretations of pathogenicity 6054 rs74315448 GRCh37: 21:35742947-35742947
GRCh38: 21:34370648-34370648
8 KCNE2 NM_172201.1(KCNE2):c.-13+5G>A SNV Uncertain significance 190793 rs786205806 GRCh37: 21:35736455-35736455
GRCh38: 21:34364156-34364156
9 overlap with 3 genes NC_000021.8:g.(?_35736455)_(35821942_?)dup Duplication Uncertain significance 666218 GRCh37: 21:35736455-35821942
GRCh38:
10 KCNE2 NM_172201.2(KCNE2):c.160A>G (p.Met54Val) SNV Uncertain significance 938947 GRCh37: 21:35742937-35742937
GRCh38: 21:34370638-34370638
11 KCNE2 NM_172201.2(KCNE2):c.171T>G (p.Ile57Met) SNV Uncertain significance 846911 GRCh37: 21:35742948-35742948
GRCh38: 21:34370649-34370649
12 KCNE2 NM_172201.1(KCNE2):c.*240G>C SNV Uncertain significance 339720 rs773295544 GRCh37: 21:35743389-35743389
GRCh38: 21:34371090-34371090
13 KCNE2 NM_172201.1(KCNE2):c.229C>T (p.Arg77Trp) SNV Uncertain significance 67614 rs141423405 GRCh37: 21:35743006-35743006
GRCh38: 21:34370707-34370707
14 KCNE2 NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) SNV Uncertain significance 955646 GRCh37: 21:35743149-35743149
GRCh38: 21:34370850-34370850
15 KCNE2 NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) SNV Uncertain significance 956020 GRCh37: 21:35743019-35743019
GRCh38: 21:34370720-34370720
16 KCNE2 NM_172201.1(KCNE2):c.369_370del (p.Ter124IleextTer?) Deletion Uncertain significance 190797 rs45610936 GRCh37: 21:35743146-35743147
GRCh38: 21:34370847-34370848
17 KCNE2 NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) SNV Uncertain significance 1003090 GRCh37: 21:35743121-35743121
GRCh38: 21:34370822-34370822
18 KCNE2 NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) SNV Uncertain significance 1005300 GRCh37: 21:35742998-35742998
GRCh38: 21:34370699-34370699
19 KCNE2 NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) SNV Uncertain significance 1010050 GRCh37: 21:35743144-35743144
GRCh38: 21:34370845-34370845
20 KCNE2 NM_172201.1(KCNE2):c.193G>A (p.Val65Met) SNV Uncertain significance 67611 rs199473364 GRCh37: 21:35742970-35742970
GRCh38: 21:34370671-34370671
21 KCNE2 NC_000021.8:g.(?_35742768)_(35743160_?)del Deletion Uncertain significance 1017741 GRCh37: 21:35742768-35743160
GRCh38:
22 KCNE2 NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn) SNV Uncertain significance 1020116 GRCh37: 21:35743070-35743070
GRCh38: 21:34370771-34370771
23 KCNE2 NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) SNV Uncertain significance 191164 rs751931568 GRCh37: 21:35742986-35742986
GRCh38: 21:34370687-34370687
24 KCNE2 NM_172201.1(KCNE2):c.*62G>A SNV Uncertain significance 339719 rs72550218 GRCh37: 21:35743211-35743211
GRCh38: 21:34370912-34370912
25 KCNE2 NM_172201.1(KCNE2):c.193G>C (p.Val65Leu) SNV Uncertain significance 67612 rs199473364 GRCh37: 21:35742970-35742970
GRCh38: 21:34370671-34370671
26 KCNE2 NM_172201.1(KCNE2):c.153G>T (p.Leu51=) SNV Uncertain significance 339718 rs143767851 GRCh37: 21:35742930-35742930
GRCh38: 21:34370631-34370631
27 KCNE2 NM_172201.1(KCNE2):c.-80C>T SNV Uncertain significance 339715 rs566735365 GRCh37: 21:35736383-35736383
GRCh38: 21:34364084-34364084
28 KCNE2 NM_172201.1(KCNE2):c.190A>G (p.Ile64Val) SNV Uncertain significance 471499 rs1555837082 GRCh37: 21:35742967-35742967
GRCh38: 21:34370668-34370668
29 KCNE2 NM_172201.1(KCNE2):c.204G>A (p.Leu68=) SNV Uncertain significance 538876 rs200403369 GRCh37: 21:35742981-35742981
GRCh38: 21:34370682-34370682
30 KCNE2 NM_172201.1(KCNE2):c.67A>T (p.Met23Leu) SNV Uncertain significance 560697 rs747045005 GRCh37: 21:35742844-35742844
GRCh38: 21:34370545-34370545
31 KCNE2 NM_172201.1(KCNE2):c.2T>C (p.Met1Thr) SNV Uncertain significance 659161 rs867658122 GRCh37: 21:35742779-35742779
GRCh38: 21:34370480-34370480
32 KCNE2 NM_172201.1(KCNE2):c.294C>G (p.Ser98Arg) SNV Uncertain significance 692254 rs1196937368 GRCh37: 21:35743071-35743071
GRCh38: 21:34370772-34370772
33 KCNE2 NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) SNV Uncertain significance 898248 GRCh37: 21:35742955-35742955
GRCh38: 21:34370656-34370656
34 KCNE2 NM_172201.2(KCNE2):c.*11A>C SNV Uncertain significance 898249 GRCh37: 21:35743160-35743160
GRCh38: 21:34370861-34370861
35 KCNE2 NM_172201.2(KCNE2):c.*61C>T SNV Uncertain significance 898250 GRCh37: 21:35743210-35743210
GRCh38: 21:34370911-34370911
36 KCNE2 NM_172201.1(KCNE2):c.122T>C (p.Val41Ala) SNV Uncertain significance 577399 rs1273269997 GRCh37: 21:35742899-35742899
GRCh38: 21:34370600-34370600
37 KCNE2 NM_172201.2(KCNE2):c.*234G>A SNV Uncertain significance 899357 GRCh37: 21:35743383-35743383
GRCh38: 21:34371084-34371084
38 KCNE2 NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) SNV Uncertain significance 895204 GRCh37: 21:35742794-35742794
GRCh38: 21:34370495-34370495
39 KCNE2 NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter) SNV Uncertain significance 1014862 GRCh37: 21:35742823-35742823
GRCh38: 21:34370524-34370524
40 overlap with 6 genes NC_000021.8:g.(?_35742772)_(36421202_?)del Deletion Uncertain significance 584413 GRCh37: 21:35742772-36421202
GRCh38:
41 KCNE2 NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) SNV Uncertain significance 1008832 GRCh37: 21:35743142-35743142
GRCh38: 21:34370843-34370843
42 KCNE2 NM_172201.1(KCNE2):c.75T>C (p.Asn25=) SNV Likely benign 705145 rs372013275 GRCh37: 21:35742852-35742852
GRCh38: 21:34370553-34370553
43 KCNE2 NM_172201.1(KCNE2):c.317C>T (p.Ser106Leu) SNV Likely benign 379226 rs183427173 GRCh37: 21:35743094-35743094
GRCh38: 21:34370795-34370795
44 KCNE2 NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) SNV Likely benign 67619 rs199473648 GRCh37: 21:35742806-35742806
GRCh38: 21:34370507-34370507
45 KCNE2 NM_172201.1(KCNE2):c.309A>G (p.Leu103=) SNV Likely benign 697688 rs1387119980 GRCh37: 21:35743086-35743086
GRCh38: 21:34370787-34370787
46 KCNE2 NM_172201.1(KCNE2):c.348G>A (p.Ala116=) SNV Likely benign 700968 rs16991657 GRCh37: 21:35743125-35743125
GRCh38: 21:34370826-34370826
47 KCNE2 NM_172201.1(KCNE2):c.-85G>A SNV Likely benign 339714 rs41315511 GRCh37: 21:35736378-35736378
GRCh38: 21:34364079-34364079
48 KCNE2 NM_172201.1(KCNE2):c.339C>T (p.Asn113=) SNV Likely benign 471500 rs756380802 GRCh37: 21:35743116-35743116
GRCh38: 21:34370817-34370817
49 KCNE2 NM_172201.1(KCNE2):c.40G>A (p.Val14Ile) SNV Likely benign 67621 rs142153692 GRCh37: 21:35742817-35742817
GRCh38: 21:34370518-34370518
50 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) SNV Likely benign 6055 rs74315449 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557

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

72
# 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

Sources

Expression for Long Qt Syndrome 6

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 65
Show member pathways
 12.73 KCNQ1 KCNJ5 KCNJ2 KCNH2 AKAP9
2
Cardiac conduction 65
Show member pathways
 12.62 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE3
3
Circadian entrainment 36
Show member pathways
 12.48 KCNQ1 KCNJ5 KCNJ2 CACNA1C
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 SCN5A SCN4B KCNQ1 KCNE1 CACNA1C
5
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.27 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE3 KCNE2
6
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
7
Potassium Channels 65
Show member pathways
 11.93 KCNQ1 KCNJ5 KCNJ2 KCNH2
8
L1CAM interactions 65
Show member pathways
 11.77 SCN5A SCN4B ANK2
9
Phase 0 - rapid depolarisation 65
Show member pathways
 11.43 SCN5A SCN4B KCNQ1 KCNE3 KCNE2 KCNE1
10
Antiarrhythmic Pathway, Pharmacodynamics 60
11.11 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
11
Interaction between L1 and Ankyrins 65
11.09 SCN5A SCN4B ANK2
12
TarBasePathway 1
10.82 KCNQ1 KCNJ2 KCNE1
Sources

GO Terms for Long Qt Syndrome 6

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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 10.25 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
2 integral component of membrane GO:0016021 10.24 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
3 plasma membrane GO:0005886 10.18 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
4 cell surface GO:0009986 9.88 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 lysosome GO:0005764 9.83 KCNQ1 KCNE2 KCNE1 ANK2
6 membrane raft GO:0045121 9.8 KCNQ1 KCNE3 KCNE1 CAV3 ANK2
7 postsynaptic membrane GO:0045211 9.72 SNTA1 CACNA1C ANK2
8 Z disc GO:0030018 9.72 SCN5A KCNE1 CAV3 CACNA1C ANK2
9 sarcolemma GO:0042383 9.65 SNTA1 SCN5A CAV3 CACNA1C ANK2
10 lateral plasma membrane GO:0016328 9.63 SNTA1 SCN5A KCNQ1
11 intercalated disc GO:0014704 9.55 SCN5A SCN4B KCNJ2 CAV3 ANK2
12 dystrophin-associated glycoprotein complex GO:0016010 9.51 SNTA1 CAV3
13 voltage-gated sodium channel complex GO:0001518 9.49 SCN5A SCN4B
14 T-tubule GO:0030315 9.43 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
15 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE3 KCNE2

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.18 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
2 potassium ion transport GO:0006813 10.07 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE3 KCNE2
3 potassium ion transmembrane transport GO:0071805 10.05 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE3 KCNE2
4 cardiac conduction GO:0061337 9.92 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 cardiac muscle contraction GO:0060048 9.91 SCN5A SCN4B KCNQ1 KCNH2
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.91 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
7 ventricular cardiac muscle cell action potential GO:0086005 9.91 SNTA1 SCN5A KCNQ1 KCNH2 KCNE3 KCNE2
8 potassium ion import across plasma membrane GO:1990573 9.9 KCNJ5 KCNJ2 KCNH2 KCNE2
9 potassium ion export across plasma membrane GO:0097623 9.89 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
10 regulation of heart rate GO:0002027 9.88 SNTA1 SCN5A CAV3 ANK2
11 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.88 KCNQ1 KCNE3 KCNE2 KCNE1
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.88 KCNQ1 KCNJ5 KCNH2 KCNE3 KCNE2 KCNE1
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.86 SCN5A SCN4B KCNJ2 CACNA1C
15 cellular response to drug GO:0035690 9.85 KCNQ1 KCNH2 KCNE2
16 membrane repolarization GO:0086009 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
17 regulation of membrane repolarization GO:0060306 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
18 membrane repolarization during action potential GO:0086011 9.85 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
19 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
20 cellular response to cAMP GO:0071320 9.84 KCNQ1 KCNE1 AKAP9
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
22 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
23 regulation of cardiac muscle cell contraction GO:0086004 9.79 SCN5A KCNJ2 ANK2
24 atrial cardiac muscle cell action potential GO:0086014 9.79 SCN5A KCNQ1 ANK2
25 negative regulation of voltage-gated potassium channel activity GO:1903817 9.77 KCNQ1 KCNE3 KCNE2
26 regulation of heart contraction GO:0008016 9.71 KCNQ1 CAV3
27 regulation of calcium ion transport GO:0051924 9.71 CAV3 ANK2
28 positive regulation of microtubule polymerization GO:0031116 9.71 CAV3 AKAP9
29 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.71 CACNA1C ANK2
30 regulation of cardiac muscle contraction GO:0055117 9.7 CAV3 ANK2
31 regulation of sodium ion transmembrane transporter activity GO:2000649 9.7 SCN4B CAV3
32 membrane depolarization during action potential GO:0086010 9.7 SCN5A KCNH2
33 positive regulation of sodium ion transport GO:0010765 9.7 SCN5A SCN4B
34 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE3
35 negative regulation of potassium ion transmembrane transport GO:1901380 9.69 KCNH2 CAV3
36 T-tubule organization GO:0033292 9.69 CAV3 ANK2
37 regulation of sodium ion transmembrane transport GO:1902305 9.69 SNTA1 SCN5A
38 positive regulation of voltage-gated calcium channel activity GO:1901387 9.68 KCNE3 KCNE2
39 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.68 CAV3 AKAP9
40 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
41 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 SCN5A CAV3
42 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.67 ANK2 AKAP9
43 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 SCN5A KCNQ1
44 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.66 KCNQ1 KCNJ5
45 membrane depolarization during SA node cell action potential GO:0086046 9.65 SCN5A ANK2
46 membrane depolarization during AV node cell action potential GO:0086045 9.65 SCN5A CACNA1C
47 SA node cell action potential GO:0086015 9.65 SCN5A ANK2
48 AV node cell action potential GO:0086016 9.64 SCN5A SCN4B
49 negative regulation of potassium ion export across plasma membrane GO:1903765 9.64 KCNH2 KCNE3
50 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.63 SCN5A CACNA1C

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
2 calmodulin binding GO:0005516 9.85 SNTA1 SCN5A KCNQ1 CACNA1C
3 ion channel activity GO:0005216 9.83 SCN5A KCNQ1 KCNH2 CACNA1C
4 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.77 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
6 potassium channel regulator activity GO:0015459 9.76 KCNE3 KCNE2 KCNE1 AKAP9
7 scaffold protein binding GO:0097110 9.73 SCN5A KCNQ1 KCNH2
8 delayed rectifier potassium channel activity GO:0005251 9.72 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
9 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ5 KCNJ2 KCNH2 KCNE2
10 sodium channel regulator activity GO:0017080 9.67 SNTA1 SCN4B CAV3
11 nitric-oxide synthase binding GO:0050998 9.65 SNTA1 SCN5A CAV3
12 ion channel binding GO:0044325 9.65 SNTA1 SCN5A SCN4B KCNQ1 KCNE3 KCNE2
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCNQ1 KCNJ5 KCNH2 KCNE3 KCNE2 KCNE1
14 sodium channel activity GO:0005272 9.59 SCN5A SCN4B
15 protein kinase A regulatory subunit binding GO:0034237 9.58 KCNQ1 AKAP9
16 voltage-gated sodium channel activity GO:0005248 9.57 SCN5A SCN4B
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.54 SCN5A SCN4B
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNQ1 KCNJ5
20 voltage-gated ion channel activity GO:0005244 9.32 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
Sources

Sources for Long Qt Syndrome 6

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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