MCID: LNG047
MIFTS: 49

Long Qt Syndrome 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 57 12 53 75 29 6 15 73
Lqt2 57 12 53 75
Long Qt Syndrome 2, Acquired, Susceptibility to 57 6
Long Qt Syndrome 2/5 75 6
Long Qt Syndrome, Acquired, Reduced Susceptibility to 57
Susceptibility to Acquired Long Qt Syndrome 2 75
Long Qt Syndrome, Acquired, Reduced 57
Long Qt Syndrome 2, Acquired 57
Qt Syndrome, Long, Type 12 40
Qt Syndrome, Long, Type 2 40
Long Qt Syndrome Type 2 76
Long Qt Syndrome 1/2 75
Long Qt Syndrome 2/3 75
Long Qt Syndrome 2/9 75
Long Qt Syndrome 1-2 73
Long Qt Syndrome 2-3 73
Long Qt Syndrome 2-5 73
Long Qt Syndrome 9 73
Long Qt Syndrome-2 13
Lqt1/2 75
Lqt2/3 75
Lqt2/5 75
Lqt2/9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
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


HPO:

32
long qt syndrome 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Long Qt Syndrome 2

OMIM : 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613688)

MalaCards based summary : Long Qt Syndrome 2, also known as lqt2, is related to long qt syndrome 9 and long qt syndrome 5, 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 Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, and related phenotypes are syncope and sudden cardiac death

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

UniProtKB/Swiss-Prot : 75 Long QT syndrome 2: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.

Wikipedia : 76 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. This... more...

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

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 30.6 CAV3 KCNJ2 SCN5A SNTA1 SSUH2
2 long qt syndrome 5 27.9 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
3 long qt syndrome 24.2 AKAP9 ALG10 ANK2 CAV3 KCNE1 KCNE2
4 long qt syndrome 13 10.3 KCNH2 KCNQ1 SCN5A
5 timothy syndrome 10.2 KCNE1 KCNH2 KCNQ1
6 creatine phosphokinase, elevated serum 10.2 CAV3 SSUH2
7 brugada syndrome 1 10.1 AKAP9 KCNH2 SCN5A
8 rippling muscle disease 2 10.1 CAV3 SSUH2
9 familial short qt syndrome 9.9 KCNH2 KCNJ2 KCNQ1
10 cardiac arrest 9.8 KCNQ1 RYR2 SCN5A
11 muscle disorders 9.8 CAV3 RYR2
12 cardiac conduction defect 9.7 KCNH2 KCNQ1 RYR2 SCN5A
13 sick sinus syndrome 9.7 SCN5A SNTA1
14 syncope 9.6 KCNH2 KCNJ2 KCNQ1 SCN5A
15 arrhythmogenic right ventricular cardiomyopathy 9.5 ANK2 KCNH2 RYR2 SCN5A
16 atrioventricular block 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 left ventricular noncompaction 9.3 KCNQ1 RYR2 SCN5A SNTA1
18 long qt syndrome 3 9.1 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 jervell and lange-nielsen syndrome 1 9.1 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 andersen cardiodysrhythmic periodic paralysis 9.1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
21 heart conduction disease 9.0 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
22 short qt syndrome 9.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23 catecholaminergic polymorphic ventricular tachycardia 9.0 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
24 long qt syndrome 12 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
25 ventricular fibrillation, paroxysmal familial, 1 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
26 sudden infant death syndrome 8.8 CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 8.7 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
28 familial atrial fibrillation 8.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
29 heart disease 8.3 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
30 intrinsic cardiomyopathy 8.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
31 cardiac arrhythmia 7.8 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 long qt syndrome 6 7.8 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 atrial fibrillation 7.7 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34 brugada syndrome 7.7 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
35 long qt syndrome 1 5.4 AKAP9 ANK2 CAV3 CD2AP KCNE1 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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

613688

Human phenotypes related to Long Qt Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 prolonged qt interval 32 HP:0001657
4 ventricular fibrillation 32 HP:0001663
5 torsade de pointes 32 HP:0001664

UMLS symptoms related to Long Qt Syndrome 2:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A ALG10
2 homeostasis/metabolism MP:0005376 9.61 ALG10 CAV3 CD2AP KCNE2 KCNH2 KCNJ2
3 muscle MP:0005369 9.17 CAV3 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo

Search NIH Clinical Center for Long Qt Syndrome 2

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 ALG10 KCNH2

Anatomical Context for Long Qt Syndrome 2

MalaCards organs/tissues related to Long Qt Syndrome 2:

41
Heart

Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

# Title Authors Year
1
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2. ( 28741726 )
2017
2
Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes. ( 24623279 )
2014
3
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. ( 22314138 )
2012
4
Automated perioperative QT monitoring in a patient with long QT syndrome 2. ( 20952434 )
2010
5
A common antitussive drug, clobutinol, precipitates the long QT syndrome 2. ( 15280442 )
2004

Variations for Long Qt Syndrome 2

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

75 (show top 50) (show all 116)
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn470Asp VAR_008578 rs121912505
2 KCNH2 p.Arg534Cys VAR_008579 rs199472916
3 KCNH2 p.Ala561Val VAR_008580 rs121912504
4 KCNH2 p.Arg582Cys VAR_008581 rs121912508
5 KCNH2 p.Ile593Arg VAR_008582 rs28928904
6 KCNH2 p.Gly628Ser VAR_008583 rs121912507
7 KCNH2 p.Val822Met VAR_008584 rs121912506
8 KCNH2 p.Phe29Leu VAR_008907 rs199472830
9 KCNH2 p.Asn33Thr VAR_008908 rs199473487
10 KCNH2 p.Gly53Arg VAR_008909 rs199472842
11 KCNH2 p.Arg56Gln VAR_008910 rs199472845
12 KCNH2 p.Cys66Gly VAR_008911 rs199473416
13 KCNH2 p.His70Arg VAR_008912 rs199473419
14 KCNH2 p.Ala78Pro VAR_008913 rs199472848
15 KCNH2 p.Leu86Arg VAR_008914 rs199472851
16 KCNH2 p.Arg176Trp VAR_008915 rs36210422
17 KCNH2 p.Thr436Met VAR_008916 rs199472901
18 KCNH2 p.Thr474Ile VAR_008917 rs199472906
19 KCNH2 p.Leu552Ser VAR_008918 rs199472918
20 KCNH2 p.Ala558Pro VAR_008919 rs121912516
21 KCNH2 p.Leu564Pro VAR_008920 rs199472924
22 KCNH2 p.Tyr569His VAR_008921 rs199473520
23 KCNH2 p.Gly572Arg VAR_008922 rs9333649
24 KCNH2 p.Gly572Cys VAR_008923 rs9333649
25 KCNH2 p.Gly584Ser VAR_008924 rs199473428
26 KCNH2 p.Asn588Asp VAR_008925 rs199473431
27 KCNH2 p.Gly601Ser VAR_008926 rs199472936
28 KCNH2 p.Gly604Ser VAR_008927 rs199473522
29 KCNH2 p.Tyr611His VAR_008928 rs199472942
30 KCNH2 p.Val612Leu VAR_008929 rs199472943
31 KCNH2 p.Thr613Met VAR_008930 rs199473524
32 KCNH2 p.Ala614Val VAR_008931 rs199472944
33 KCNH2 p.Asn629Asp VAR_008932 rs199472956
34 KCNH2 p.Asn629Lys VAR_008933 rs41307295
35 KCNH2 p.Val630Leu VAR_008934 rs199472958
36 KCNH2 p.Val630Ala VAR_008935 rs199473526
37 KCNH2 p.Asn633Ser VAR_008936 rs199472961
38 KCNH2 p.Phe640Leu VAR_008937 rs199472970
39 KCNH2 p.Ser818Leu VAR_008938 rs121912510
40 KCNH2 p.Asn629Ser VAR_009179 rs199472957
41 KCNH2 p.Gly47Val VAR_009909 rs199473490
42 KCNH2 p.Pro347Ser VAR_009912 rs138776684
43 KCNH2 p.Arg531Gln VAR_009913 rs199473515
44 KCNH2 p.Ile593Thr VAR_009915 rs28928904
45 KCNH2 p.Asp609Asn VAR_009916 rs199472941
46 KCNH2 p.Thr65Pro VAR_014371 rs121912511
47 KCNH2 p.Pro451Leu VAR_014373 rs199472902
48 KCNH2 p.Ala561Thr VAR_014374 rs199472921
49 KCNH2 p.Leu615Val VAR_014375 rs199472945
50 KCNH2 p.Gly626Ser VAR_014376 rs199472953

ClinVar genetic disease variations for Long Qt Syndrome 2:

6
(show top 50) (show all 135)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
2 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh38 Chromosome 11, 2583545: 2583545
3 ALG10 NM_032834.3(ALG10): c.1339G> A (p.Val447Ile) single nucleotide variant risk factor rs121908850 GRCh37 Chromosome 12, 34179767: 34179767
4 ALG10 NM_032834.3(ALG10): c.1339G> A (p.Val447Ile) single nucleotide variant risk factor rs121908850 GRCh38 Chromosome 12, 34026832: 34026832
5 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
6 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh38 Chromosome 7, 150951711: 150951711
7 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh37 Chromosome 7, 150649662: 150649662
8 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh38 Chromosome 7, 150952574: 150952574
9 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh37 Chromosome 7, 150648703: 150648703
10 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh38 Chromosome 7, 150951615: 150951615
11 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
12 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh38 Chromosome 7, 150948984: 150948984
13 KCNH2 NM_000238.3(KCNH2): c.1497_1523del27 (p.Ile500_Phe508del) deletion Pathogenic GRCh37 Chromosome 7, 150649547: 150649573
14 KCNH2 NM_000238.3(KCNH2): c.1497_1523del27 (p.Ile500_Phe508del) deletion Pathogenic GRCh38 Chromosome 7, 150952459: 150952485
15 KCNH2 NM_172057.2(KCNH2): c.241delA (p.Thr81Argfs) deletion Pathogenic GRCh37 Chromosome 7, 150649809: 150649809
16 KCNH2 NM_172057.2(KCNH2): c.241delA (p.Thr81Argfs) deletion Pathogenic GRCh38 Chromosome 7, 150952721: 150952721
17 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic rs121912507 GRCh37 Chromosome 7, 150648599: 150648599
18 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic rs121912507 GRCh38 Chromosome 7, 150951511: 150951511
19 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
20 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh38 Chromosome 7, 150951649: 150951649
21 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 GRCh37 Chromosome 7, 150648767: 150648767
22 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 GRCh38 Chromosome 7, 150951679: 150951679
23 KCNH2 NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs121912509 GRCh37 Chromosome 7, 150644565: 150644565
24 KCNH2 NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs121912509 GRCh38 Chromosome 7, 150947477: 150947477
25 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
26 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh38 Chromosome 7, 150948995: 150948995
27 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
28 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic rs12720441 GRCh38 Chromosome 7, 150950216: 150950216
29 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh37 Chromosome 7, 150671913: 150671913
30 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh38 Chromosome 7, 150974825: 150974825
31 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh37 Chromosome 7, 150647399: 150647399
32 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh38 Chromosome 7, 150950311: 150950311
33 KCNH2 KCNH2, 1-BP INS, 2775G insertion Pathogenic
34 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh37 Chromosome 7, 150645954: 150645954
35 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh38 Chromosome 7, 150948866: 150948866
36 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh37 Chromosome 7, 150648809: 150648809
37 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh38 Chromosome 7, 150951721: 150951721
38 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
39 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh38 Chromosome 7, 150951552: 150951552
40 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh37 Chromosome 7, 150648650: 150648650
41 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh38 Chromosome 7, 150951562: 150951562
42 KCNH2 NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu) single nucleotide variant Likely pathogenic rs199472902 GRCh37 Chromosome 7, 150649718: 150649718
43 KCNH2 NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu) single nucleotide variant Likely pathogenic rs199472902 GRCh38 Chromosome 7, 150952630: 150952630
44 KCNH2 NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser) single nucleotide variant Pathogenic rs199472918 GRCh37 Chromosome 7, 150648826: 150648826
45 KCNH2 NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser) single nucleotide variant Pathogenic rs199472918 GRCh38 Chromosome 7, 150951738: 150951738
46 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh37 Chromosome 7, 150648731: 150648731
47 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh38 Chromosome 7, 150951643: 150951643
48 KCNH2 NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199472936 GRCh37 Chromosome 7, 150648680: 150648680
49 KCNH2 NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199472936 GRCh38 Chromosome 7, 150951592: 150951592
50 KCNH2 NM_000238.3(KCNH2): c.1876G> A (p.Gly626Ser) single nucleotide variant Likely pathogenic rs199472953 GRCh37 Chromosome 7, 150648605: 150648605

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 AKAP9 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2
2 12.15 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 11.85 CAV3 KCNH2 KCNQ1 RYR2 SCN5A SNTA1
4
Show member pathways
11.83 KCNE2 KCNJ2 KCNQ1
5
Show member pathways
11.75 KCNH2 KCNJ2 KCNQ1
6
Show member pathways
11.53 AKAP9 KCNE1 KCNE2 KCNQ1 SCN5A
7 10.97 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 10.93 ANK2 SCN5A
9 10.82 KCNE1 KCNJ2 KCNQ1

GO Terms for Long Qt Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.83 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 lysosome GO:0005764 9.76 ANK2 KCNE1 KCNE2 KCNQ1
3 membrane raft GO:0045121 9.71 ANK2 CAV3 KCNE1 KCNQ1
4 intercalated disc GO:0014704 9.62 ANK2 CAV3 KCNJ2 SCN5A
5 T-tubule GO:0030315 9.56 ANK2 CAV3 KCNJ2 SCN5A
6 Z disc GO:0030018 9.55 ANK2 CAV3 KCNE1 RYR2 SCN5A
7 smooth endoplasmic reticulum GO:0005790 9.48 KCNJ2 RYR2
8 sarcolemma GO:0042383 9.35 ANK2 CAV3 RYR2 SCN5A SNTA1
9 voltage-gated potassium channel complex GO:0008076 9.1 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
10 plasma membrane GO:0005886 10.11 ANK2 CAV3 CD2AP KCNE1 KCNE2 KCNH2

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 potassium ion transmembrane transport GO:0071805 9.95 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 cardiac conduction GO:0061337 9.87 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 cardiac muscle contraction GO:0060048 9.86 KCNH2 KCNQ1 RYR2 SCN5A
5 cellular response to drug GO:0035690 9.84 KCNE2 KCNH2 KCNQ1
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 KCNE1 KCNE2 KCNJ2 SCN5A
7 regulation of heart rate GO:0002027 9.83 ANK2 CAV3 RYR2 SCN5A SNTA1
8 cellular response to cAMP GO:0071320 9.81 AKAP9 KCNE1 KCNQ1
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.81 KCNE1 KCNH2 KCNJ2 KCNQ1
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.81 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
11 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
12 regulation of cardiac muscle contraction GO:0055117 9.78 ANK2 CAV3 RYR2
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNE1 KCNH2 KCNJ2 KCNQ1
14 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
15 regulation of cardiac muscle cell contraction GO:0086004 9.77 ANK2 KCNJ2 SCN5A
16 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
17 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
18 atrial cardiac muscle cell action potential GO:0086014 9.75 ANK2 KCNQ1 SCN5A
19 regulation of membrane repolarization GO:0060306 9.73 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20 potassium ion import GO:0010107 9.71 KCNE2 KCNJ2
21 regulation of heart contraction GO:0008016 9.71 CAV3 KCNQ1
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
23 membrane depolarization during action potential GO:0086010 9.7 KCNH2 SCN5A
24 regulation of calcium ion transport GO:0051924 9.7 ANK2 CAV3
25 positive regulation of microtubule polymerization GO:0031116 9.7 AKAP9 CAV3
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 ANK2 RYR2
27 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
28 cellular response to epinephrine stimulus GO:0071872 9.69 KCNQ1 RYR2
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 KCNJ2 SCN5A
30 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.68 KCNE1 KCNE2
31 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 CAV3 SCN5A
32 negative regulation of potassium ion transmembrane transport GO:1901380 9.68 CAV3 KCNH2
33 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.68 AKAP9 CAV3
34 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.67 ANK2 RYR2
35 regulation of sodium ion transmembrane transport GO:1902305 9.67 SCN5A SNTA1
36 regulation of delayed rectifier potassium channel activity GO:1902259 9.67 KCNE1 KCNE2
37 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.66 KCNQ1 SCN5A
38 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.65 AKAP9 ANK2
39 SA node cell action potential GO:0086015 9.65 ANK2 SCN5A
40 membrane depolarization during SA node cell action potential GO:0086046 9.65 ANK2 SCN5A
41 sarcoplasmic reticulum calcium ion transport GO:0070296 9.64 ANK2 RYR2
42 potassium ion export across plasma membrane GO:0097623 9.63 KCNH2 KCNQ1
43 T-tubule organization GO:0033292 9.63 ANK2 CAV3
44 regulation of atrial cardiac muscle cell action potential GO:0098910 9.62 ANK2 RYR2
45 regulation of calcium ion transmembrane transporter activity GO:1901019 9.62 ANK2 CAV3
46 regulation of SA node cell action potential GO:0098907 9.61 ANK2 RYR2
47 ventricular cardiac muscle cell action potential GO:0086005 9.61 ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
48 regulation of heart rate by cardiac conduction GO:0086091 9.23 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
49 ion transport GO:0006811 10.13 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
50 regulation of ion transmembrane transport GO:0034765 10.01 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.85 ANK2 CAV3 RYR2 SCN5A
2 calmodulin binding GO:0005516 9.81 KCNQ1 RYR2 SCN5A SNTA1
3 ion channel activity GO:0005216 9.73 KCNH2 RYR2 SCN5A
4 potassium channel activity GO:0005267 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated ion channel activity GO:0005244 9.72 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 voltage-gated potassium channel activity GO:0005249 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
7 scaffold protein binding GO:0097110 9.7 KCNH2 KCNQ1 SCN5A
8 potassium channel regulator activity GO:0015459 9.67 AKAP9 KCNE1 KCNE2
9 inward rectifier potassium channel activity GO:0005242 9.65 KCNE2 KCNH2 KCNJ2
10 protein kinase A regulatory subunit binding GO:0034237 9.63 AKAP9 KCNQ1 RYR2
11 sodium channel regulator activity GO:0017080 9.57 CAV3 SNTA1
12 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
13 protein kinase A catalytic subunit binding GO:0034236 9.54 KCNQ1 RYR2
14 nitric-oxide synthase binding GO:0050998 9.54 CAV3 SCN5A SNTA1
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
17 ion channel binding GO:0044325 9.23 AKAP9 ANK2 CAV3 KCNE2 KCNQ1 RYR2

Sources for Long Qt Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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