LQT10
MCID: LNG045
MIFTS: 42

Long Qt Syndrome 10 (LQT10)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 10

MalaCards integrated aliases for Long Qt Syndrome 10:

Name: Long Qt Syndrome 10 57 11 19 73 28 5 43 14 71
Atrial Fibrillation, Familial, 17 57 73 28 5
Lqt10 57 11 19 73
Qt Syndrome, Long, Type 10 38
Long Qt Syndrome-10 12
Atfb17 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
risk of sudden death with exertion


Classifications:



External Ids:

Disease Ontology 11 DOID:0110651
OMIM® 57 611819
OMIM Phenotypic Series 57 PS192500,PS608583
ICD10 31 I45.8
UMLS 71 C2678484

Summaries for Long Qt Syndrome 10

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 10, also known as atrial fibrillation, familial, 17, is related to cardiomyopathy, dilated, 3b and brugada syndrome 3. An important gene associated with Long Qt Syndrome 10 is SCN4B (Sodium Voltage-Gated Channel Beta Subunit 4), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, atrioventricular node and heart-ventricle, and related phenotypes are atrial fibrillation and sudden cardiac death

UniProtKB/Swiss-Prot 73 Long qt syndrome 10: 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.

Atrial fibrillation, familial, 17: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.

More information from OMIM: 611819 PS192500,PS608583

Related Diseases for Long Qt Syndrome 10

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 3b 10.1 SNTA1 CAV3
2 brugada syndrome 3 10.0 KCNE2 ANK2
3 paroxysmal extreme pain disorder 10.0 SCN5A SCN4B
4 cardiomyopathy, familial hypertrophic, 4 10.0 ANK2 AKAP9
5 progressive familial heart block, type ia 10.0 SCN5A ANK2
6 muscular dystrophy, becker type 9.9 SNTA1 CAV3
7 first-degree atrioventricular block 9.9 SCN5A KCNJ2
8 brugada syndrome 4 9.9 SCN5A KCNJ2
9 ventricular tachycardia, catecholaminergic polymorphic, 3 9.9 KCNJ2 ANK2
10 paramyotonia congenita of von eulenburg 9.8 SCN5A KCNJ2
11 generalized epilepsy with febrile seizures plus 9.8 SCN5A SCN4B ANK2
12 familial long qt syndrome 9.8 SCN5A KCNE1
13 deafness, autosomal recessive 98 9.8 KCNE2 KCNE1
14 erythromelalgia 9.8 SCN5A SCN4B
15 sudden infant death syndrome 9.8 SNTA1 SCN5A SCN4B CAV3
16 congestive heart failure 9.7 SCN5A KCNJ2 KCNE2
17 long qt syndrome 15 9.7 SNTA1 SCN4B KCNJ2 AKAP9
18 familial periodic paralysis 9.7 SCN5A KCNJ5 KCNJ2
19 hyperkalemic periodic paralysis 9.7 SCN5A KCNJ5 KCNJ2
20 sick sinus syndrome 9.7 SCN5A KCNE1
21 long qt syndrome 14 9.6 SNTA1 SCN5A SCN4B KCNJ2
22 sinoatrial node disease 9.5 SCN5A KCNJ2 KCNE2 ANK2
23 lipoprotein quantitative trait locus 9.4 SCN5A KCNJ5 KCNJ2 KCNE2
24 ventricular fibrillation, paroxysmal familial, 1 9.4 SCN5A KCNJ5 KCNE2 KCNE1
25 atrioventricular block 9.3 SCN5A KCNJ2 KCNE2 KCNE1
26 third-degree atrioventricular block 9.1 SCN5A KCNJ2 KCNE2 KCNE1 ANK2
27 hypokalemic periodic paralysis, type 1 9.0 SCN5A SCN4B KCNJ5 KCNJ2 KCNE1 CAV3
28 heart disease 8.9 SCN5A KCNJ5 KCNJ2 KCNE2 KCNE1
29 atrial fibrillation 8.8 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
30 left ventricular noncompaction 8.7 SNTA1 SCN5A KCNJ2 KCNE2 KCNE1 CAV3
31 short qt syndrome 8.7 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2 KCNE1
32 heart conduction disease 8.7 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2 KCNE1
33 long qt syndrome 6 8.6 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
34 dilated cardiomyopathy 8.6 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
35 hypertrophic cardiomyopathy 8.5 SNTA1 SCN5A KCNJ2 KCNE2 KCNE1 CAV3
36 intrinsic cardiomyopathy 8.4 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
37 long qt syndrome 5 8.4 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
38 long qt syndrome 12 8.4 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
39 timothy syndrome 8.4 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
40 jervell and lange-nielsen syndrome 1 8.4 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
41 long qt syndrome 11 8.4 SNTA1 SCN4B KCNJ5 KCNJ2 KCNE2 KCNE1
42 familial atrial fibrillation 8.3 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
43 long qt syndrome 8.2 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
44 long qt syndrome 1 8.2 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
45 catecholaminergic polymorphic ventricular tachycardia 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
46 brugada syndrome 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
47 long qt syndrome 2 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
48 long qt syndrome 13 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
49 long qt syndrome 9 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
50 long qt syndrome 3 8.1 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 10:



Diseases related to Long Qt Syndrome 10

Symptoms & Phenotypes for Long Qt Syndrome 10

Human phenotypes related to Long Qt Syndrome 10:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrial fibrillation 30 Occasional (7.5%) HP:0005110
2 sudden cardiac death 30 Very rare (1%) HP:0001645
3 prolonged qt interval 30 HP:0001657
4 atrioventricular block 30 HP:0001678
5 t-wave alternans 30 HP:0012266

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
atrial fibrillation (in some patients)
prolongation of corrected qt interval (in some patients)
long isoelectric st segment (in some patients)
late-onset t wave (in some patients)
atrioventricular node block, 2:1, intermittent (in some patients)

Clinical features from OMIM®:

611819 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Long Qt Syndrome 10:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ANK2 CAV3 KCNE1 KCNJ2 SCN5A SNTA1

Drugs & Therapeutics for Long Qt Syndrome 10

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 10

Cochrane evidence based reviews: long qt syndrome 10

Genetic Tests for Long Qt Syndrome 10

Genetic tests related to Long Qt Syndrome 10:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 10 28 SCN4B
2 Atrial Fibrillation, Familial, 17 28

Anatomical Context for Long Qt Syndrome 10

Organs/tissues related to Long Qt Syndrome 10:

MalaCards : Heart, Atrioventricular Node
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 10

Articles related to Long Qt Syndrome 10:

# Title Authors PMID Year
1
Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation. 57 5
23604097 2013
2
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 57 5
17592081 2007

Variations for Long Qt Syndrome 10

ClinVar genetic disease variations for Long Qt Syndrome 10:

5 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN4B NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) SNV Pathogenic
2459 rs121434386 GRCh37: 11:118011980-118011980
GRCh38: 11:118141265-118141265
2 SCN4B NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) SNV Pathogenic
140600 rs587777559 GRCh37: 11:118012030-118012030
GRCh38: 11:118141315-118141315
3 SCN4B NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) SNV Pathogenic
140601 rs587777560 GRCh37: 11:118012019-118012019
GRCh38: 11:118141304-118141304
4 SCN4B NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro) SNV Uncertain Significance
841169 rs755758222 GRCh37: 11:118014658-118014658
GRCh38: 11:118143943-118143943
5 SCN4B NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr) SNV Uncertain Significance
855114 rs777894412 GRCh37: 11:118015894-118015894
GRCh38: 11:118145179-118145179
6 SCN4B NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) SNV Uncertain Significance
574219 rs377730779 GRCh37: 11:118011995-118011995
GRCh38: 11:118141280-118141280
7 SCN4B NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) SNV Uncertain Significance
519285 rs756210130 GRCh37: 11:118015891-118015891
GRCh38: 11:118145176-118145176
8 SCN4B NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) SNV Uncertain Significance
663765 rs946169910 GRCh37: 11:118023349-118023349
GRCh38: 11:118152634-118152634
9 SCN4B NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) SNV Uncertain Significance
190889 rs149979176 GRCh37: 11:118023371-118023371
GRCh38: 11:118152656-118152656
10 SCN4B NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) SNV Uncertain Significance
190895 rs201454653 GRCh37: 11:118007797-118007797
GRCh38: 11:118137082-118137082
11 SCN4B NM_174934.4(SCN4B):c.235-18A>G SNV Uncertain Significance
190893 rs758764353 GRCh37: 11:118014794-118014794
GRCh38: 11:118144079-118144079
12 SCN4B NM_174934.4(SCN4B):c.272C>A (p.Pro91His) SNV Uncertain Significance
1403433 GRCh37: 11:118014739-118014739
GRCh38: 11:118144024-118144024
13 SCN4B NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser) SNV Uncertain Significance
1462958 GRCh37: 11:118015773-118015773
GRCh38: 11:118145058-118145058
14 SCN4B NM_174934.4(SCN4B):c.103G>A (p.Val35Met) SNV Uncertain Significance
1465710 GRCh37: 11:118015903-118015903
GRCh38: 11:118145188-118145188
15 SCN4B NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg) SNV Uncertain Significance
1504160 GRCh37: 11:118015835-118015835
GRCh38: 11:118145120-118145120
16 SCN4B NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr) SNV Uncertain Significance
1524046 GRCh37: 11:118007771-118007771
GRCh38: 11:118137056-118137056
17 SCN4B NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys) SNV Uncertain Significance
637988 rs149497652 GRCh37: 11:118014713-118014713
GRCh38: 11:118143998-118143998
18 SCN4B NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer) INDEL Uncertain Significance
856814 rs1948156091 GRCh37: 11:118015912-118015917
GRCh38: 11:118145197-118145202
19 SCN4B NM_174934.4(SCN4B):c.61+1144T>A SNV Uncertain Significance
1341769 GRCh37: 11:118022184-118022184
GRCh38: 11:118151469-118151469
20 SCN4B NM_174934.4(SCN4B):c.632C>T (p.Thr211Met) SNV Uncertain Significance
1214344 GRCh37: 11:118007797-118007797
GRCh38: 11:118137082-118137082
21 SCN4B NM_174934.4(SCN4B):c.464-11G>A SNV Uncertain Significance
1387437 GRCh37: 11:118012062-118012062
GRCh38: 11:118141347-118141347
22 SCN4B NM_174934.4(SCN4B):c.234+1G>A SNV Uncertain Significance
1414065 GRCh37: 11:118015771-118015771
GRCh38: 11:118145056-118145056
23 SCN4B NM_174934.4(SCN4B):c.346del (p.Ile116fs) DEL Uncertain Significance
1363895 GRCh37: 11:118014665-118014665
GRCh38: 11:118143950-118143950
24 overlap with 38 genes NC_000011.9:g.(?_118007722)_(119170511_?)del DEL Uncertain Significance
659604 GRCh37: 11:118007722-119170511
GRCh38:
25 SCN4B NM_174934.4(SCN4B):c.62-1G>A SNV Uncertain Significance
1040559 rs950065814 GRCh37: 11:118015945-118015945
GRCh38: 11:118145230-118145230
26 SCN4B NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro) SNV Uncertain Significance
560693 rs761183228 GRCh37: 11:118007816-118007816
GRCh38: 11:118137101-118137101
27 SCN4B NM_174934.4(SCN4B):c.299G>A (p.Arg100His) SNV Uncertain Significance
649165 rs779514077 GRCh37: 11:118014712-118014712
GRCh38: 11:118143997-118143997
28 SCN4B NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu) SNV Uncertain Significance
1058880 GRCh37: 11:118015806-118015806
GRCh38: 11:118145091-118145091
29 SCN4B NM_174934.4(SCN4B):c.239T>C (p.Ile80Thr) SNV Uncertain Significance
242024 rs546190140 GRCh37: 11:118014772-118014772
GRCh38: 11:118144057-118144057
30 SCN4B NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg) SNV Uncertain Significance
403961 rs758628437 GRCh37: 11:118007833-118007833
GRCh38: 11:118137118-118137118
31 SCN4B NM_174934.4(SCN4B):c.544C>G (p.Leu182Val) SNV Uncertain Significance
403962 rs771565684 GRCh37: 11:118011971-118011971
GRCh38: 11:118141256-118141256
32 SCN4B NM_174934.4(SCN4B):c.376A>G (p.Thr126Ala) SNV Uncertain Significance
537383 rs1555097541 GRCh37: 11:118014635-118014635
GRCh38: 11:118143920-118143920
33 SCN4B NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu) SNV Uncertain Significance
537384 rs757147726 GRCh37: 11:118011947-118011947
GRCh38: 11:118141232-118141232
34 SCN4B NM_174934.4(SCN4B):c.61+1G>A SNV Uncertain Significance
692252 rs377558816 GRCh37: 11:118023327-118023327
GRCh38: 11:118152612-118152612
35 SCN4B NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro) SNV Uncertain Significance
943405 rs1948155711 GRCh37: 11:118015906-118015906
GRCh38: 11:118145191-118145191
36 SCN4B NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly) SNV Uncertain Significance
945872 rs1948133901 GRCh37: 11:118014652-118014652
GRCh38: 11:118143937-118143937
37 SCN4B NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1]) MICROSAT Uncertain Significance
948418 rs1447414158 GRCh37: 11:118011973-118011978
GRCh38: 11:118141258-118141263
38 SCN4B NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro) SNV Uncertain Significance
960482 rs779514077 GRCh37: 11:118014712-118014712
GRCh38: 11:118143997-118143997
39 SCN4B NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn) SNV Uncertain Significance
961525 rs1353607051 GRCh37: 11:118014638-118014638
GRCh38: 11:118143923-118143923
40 SCN4B NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu) SNV Uncertain Significance
970001 rs1246344139 GRCh37: 11:118014725-118014725
GRCh38: 11:118144010-118144010
41 SCN4B NM_174934.4(SCN4B):c.475G>C (p.Asp159His) SNV Uncertain Significance
1037322 rs1565455142 GRCh37: 11:118012040-118012040
GRCh38: 11:118141325-118141325
42 SCN4B NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly) SNV Uncertain Significance
1040302 rs750707860 GRCh37: 11:118007830-118007830
GRCh38: 11:118137115-118137115
43 SCN4B NM_174934.4(SCN4B):c.266C>G (p.Ser89Cys) SNV Uncertain Significance
1057377 GRCh37: 11:118014745-118014745
GRCh38: 11:118144030-118144030
44 SCN4B NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu) SNV Uncertain Significance
1059291 GRCh37: 11:118015808-118015808
GRCh38: 11:118145093-118145093
45 SCN4B NM_174934.4(SCN4B):c.281C>T (p.Thr94Met) SNV Uncertain Significance
190894 rs768926261 GRCh37: 11:118014730-118014730
GRCh38: 11:118144015-118144015
46 SCN4B NM_174934.4(SCN4B):c.594-2A>G SNV Uncertain Significance
264183 rs375535030 GRCh37: 11:118007837-118007837
GRCh38: 11:118137122-118137122
47 SCN4B NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln) SNV Uncertain Significance
1397893 GRCh37: 11:118012046-118012046
GRCh38: 11:118141331-118141331
48 SCN4B NM_174934.4(SCN4B):c.463C>T (p.Leu155=) SNV Uncertain Significance
1365345 GRCh37: 11:118014548-118014548
GRCh38: 11:118143833-118143833
49 SCN4B NM_174934.4(SCN4B):c.513C>T (p.Gly171=) SNV Uncertain Significance
1439146 GRCh37: 11:118012002-118012002
GRCh38: 11:118141287-118141287
50 SCN4B NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys) SNV Uncertain Significance
1484623 GRCh37: 11:118014752-118014752
GRCh38: 11:118144037-118144037

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 10:

73
# Symbol AA change Variation ID SNP ID
1 SCN4B p.Leu179Phe VAR_043488 rs121434386
2 SCN4B p.Val162Gly VAR_071317 rs587777559
3 SCN4B p.Ile166Leu VAR_071318 rs587777560

Expression for Long Qt Syndrome 10

Search GEO for disease gene expression data for Long Qt Syndrome 10.

Pathways for Long Qt Syndrome 10

GO Terms for Long Qt Syndrome 10

Cellular components related to Long Qt Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.92 SCN5A KCNE1 CAV3 ANK2
2 sarcolemma GO:0042383 9.86 SNTA1 SCN5A CAV3 ANK2
3 T-tubule GO:0030315 9.76 ANK2 CAV3 KCNJ2 SCN5A
4 voltage-gated sodium channel complex GO:0001518 9.71 SCN5A SCN4B
5 dystrophin-associated glycoprotein complex GO:0016010 9.67 SNTA1 CAV3
6 voltage-gated potassium channel complex GO:0008076 9.65 KCNJ5 KCNJ2 KCNE2 KCNE1 AKAP9
7 intercalated disc GO:0014704 9.32 SCN5A SCN4B KCNJ2 CAV3 ANK2

Biological processes related to Long Qt Syndrome 10 according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.09 KCNJ5 KCNJ2 KCNE2 KCNE1
2 potassium ion import across plasma membrane GO:1990573 10.03 KCNJ5 KCNJ2 KCNE2
3 potassium ion transport GO:0006813 10 KCNE1 KCNE2 KCNJ2 KCNJ5
4 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.99 KCNJ5 KCNE2 KCNE1
5 positive regulation of microtubule polymerization GO:0031116 9.98 CAV3 AKAP9
6 regulation of cardiac muscle contraction GO:0055117 9.97 CAV3 ANK2
7 regulation of potassium ion transmembrane transport GO:1901379 9.97 KCNE2 KCNE1
8 regulation of sodium ion transmembrane transporter activity GO:2000649 9.97 SCN4B CAV3
9 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.97 SCN5A SCN4B KCNJ2
10 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A CAV3 ANK2
11 positive regulation of sodium ion transport GO:0010765 9.96 SCN5A SCN4B
12 potassium ion export across plasma membrane GO:0097623 9.96 KCNE1 KCNE2
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.96 KCNE1 KCNJ2
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.96 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
15 positive regulation of voltage-gated calcium channel activity GO:1901387 9.95 KCNE2 KCNE1
16 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.95 KCNE2 KCNE1
17 regulation of cardiac muscle cell contraction GO:0086004 9.95 SCN5A KCNJ2 ANK2
18 membrane repolarization GO:0086009 9.94 KCNE2 KCNE1
19 regulation of sodium ion transmembrane transport GO:1902305 9.94 SNTA1 SCN5A
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.93 KCNJ2 KCNE1
21 T-tubule organization GO:0033292 9.93 ANK2 CAV3
22 monoatomic ion transport GO:0006811 9.93 KCNE1 KCNE2 KCNJ2 KCNJ5 SCN4B SCN5A
23 ventricular cardiac muscle cell action potential GO:0086005 9.93 ANK2 CAV3 KCNE1 KCNE2 SCN5A SNTA1
24 atrial cardiac muscle cell action potential GO:0086014 9.92 ANK2 SCN5A
25 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.92 CAV3 AKAP9
26 regulation of monoatomic ion transmembrane transport GO:0034765 9.92 KCNE1 KCNE2 KCNJ2 KCNJ5 SCN4B SCN5A
27 regulation of delayed rectifier potassium channel activity GO:1902259 9.91 KCNE2 KCNE1
28 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.91 ANK2 AKAP9
29 regulation of membrane repolarization GO:0060306 9.91 KCNJ2 KCNE2 AKAP9
30 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.89 SCN5A CAV3
31 SA node cell action potential GO:0086015 9.88 ANK2 SCN5A
32 membrane depolarization during SA node cell action potential GO:0086046 9.88 ANK2 SCN5A
33 membrane repolarization during action potential GO:0086011 9.88 KCNJ2 KCNE2 KCNE1
34 AV node cell action potential GO:0086016 9.87 SCN5A SCN4B
35 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.86 AKAP9 ANK2 CAV3 KCNE1 KCNE2 SCN4B
36 regulation of calcium ion transport GO:0051924 9.85 CAV3 ANK2
37 regulation of calcium ion transmembrane transporter activity GO:1901019 9.84 CAV3 ANK2
38 negative regulation of voltage-gated potassium channel activity GO:1903817 9.6 KCNE2 KCNE1
39 regulation of heart rate by cardiac conduction GO:0086091 9.53 AKAP9 ANK2 KCNE1 KCNE2 KCNJ2 KCNJ5

Molecular functions related to Long Qt Syndrome 10 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 potassium channel regulator activity GO:0015459 9.88 KCNE2 KCNE1 AKAP9
2 sodium channel regulator activity GO:0017080 9.85 SNTA1 SCN4B CAV3
3 delayed rectifier potassium channel activity GO:0005251 9.81 KCNE2 KCNE1
4 voltage-gated sodium channel activity GO:0005248 9.8 SCN5A SCN4B
5 inward rectifier potassium channel activity GO:0005242 9.8 KCNJ5 KCNJ2 KCNE2
6 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.76 KCNJ2 KCNE1
7 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.73 SCN5A SCN4B
8 nitric-oxide synthase binding GO:0050998 9.73 CAV3 SCN5A SNTA1
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCNJ5 KCNE2 KCNE1
10 voltage-gated monoatomic ion channel activity GO:0005244 9.56 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2 KCNE1
11 transmembrane transporter binding GO:0044325 9.53 SNTA1 SCN5A SCN4B KCNE2 KCNE1 CAV3
12 sodium channel activity GO:0005272 9.48 SCN5A SCN4B

Sources for Long Qt Syndrome 10

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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