LQT10
MCID: LNG045
MIFTS: 41

Long Qt Syndrome 10 (LQT10)

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

Aliases & Classifications for Long Qt Syndrome 10

MalaCards integrated aliases for Long Qt Syndrome 10:

Name: Long Qt Syndrome 10 57 12 20 73 29 6 15 71
Atrial Fibrillation, Familial, 17 57 73 29 6
Lqt10 57 12 20 73
Qt Syndrome, Long, Type 10 39
Long Qt Syndrome-10 13
Atfb17 73

Characteristics:

OMIM®:

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

Miscellaneous:
risk of sudden death with exertion


HPO:

31
long qt syndrome 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110651
OMIM® 57 611819
OMIM Phenotypic Series 57 PS192500 PS608583
ICD10 32 I45.8
UMLS 71 C2678484

Summaries for Long Qt Syndrome 10

UniProtKB/Swiss-Prot : 73 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.
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.

MalaCards based summary : Long Qt Syndrome 10, also known as atrial fibrillation, familial, 17, is related to erythromelalgia and progressive familial heart block, type ia. 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 cGMP-PKG signaling pathway. Affiliated tissues include heart and atrioventricular node, and related phenotypes are atrial fibrillation and sudden cardiac death

Disease Ontology : 12 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 58)
# Related Disease Score Top Affiliating Genes
1 erythromelalgia 10.0 SCN5A SCN4B
2 progressive familial heart block, type ia 10.0 SCN5A ANK2
3 brugada syndrome 1 10.0 SCN5A AKAP9
4 brugada syndrome 3 10.0 KCNE2 ANK2
5 paroxysmal extreme pain disorder 10.0 SCN5A SCN4B
6 first-degree atrioventricular block 10.0 SCN5A KCNJ2
7 third-degree atrioventricular block 9.9 SCN5A KCNJ2
8 familial periodic paralysis 9.9 SCN5A KCNJ2
9 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2
10 long qt syndrome 15 9.9 KCNJ2 KCNE1
11 sick sinus syndrome 9.9 SNTA1 SCN5A ANK2
12 developmental and epileptic encephalopathy 14 9.8 SCN5A KCNQ1
13 syncope 9.8 SCN5A KCNQ1
14 cardiac conduction defect 9.8 SCN5A KCNQ1
15 paramyotonia congenita of von eulenburg 9.7 SCN5A KCNJ2
16 familial short qt syndrome 9.7 KCNQ1 KCNJ2
17 hypokalemic periodic paralysis, type 1 9.7 SCN5A KCNJ2 KCNE1
18 deafness, autosomal recessive 98 9.6 KCNQ1 KCNE2 KCNE1
19 long qt syndrome 14 9.6 SCN5A KCNQ1 KCNJ2
20 arrhythmogenic right ventricular cardiomyopathy 9.6 SCN5A KCNE1 ANK2 AKAP9
21 brugada syndrome 4 9.5 SCN5A KCNQ1 KCNJ2
22 cardiac arrest 9.4 SCN5A KCNQ1 ANK2 AKAP9
23 ventricular fibrillation, paroxysmal familial, 1 9.4 SCN5A KCNQ1 KCNE2 KCNE1
24 atrioventricular block 9.4 SCN5A KCNQ1 KCNE2 KCNE1
25 early infantile epileptic encephalopathy 9.4 SCN5A SCN4B KCNQ1
26 sinoatrial node disease 9.3 SCN5A KCNQ1 KCNJ2 ANK2
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 SCN5A KCNQ1 KCNJ2 ANK2
28 cardiac arrhythmia 9.2 SCN5A KCNQ1 KCNE2 ANK2 AKAP9
29 left ventricular noncompaction 9.1 SNTA1 SCN5A KCNQ1 KCNJ2 KCNE1
30 short qt syndrome 9.0 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1
31 myasthenic syndrome, congenital, 5 9.0 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1
32 lipoprotein quantitative trait locus 9.0 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1
33 heart disease 8.7 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1 ANK2
34 congenital myasthenic syndrome 8.7 SNTA1 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1
35 sudden infant death syndrome 8.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
36 atrial fibrillation 8.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
37 familial long qt syndrome 8.4 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
38 long qt syndrome 12 8.4 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
39 hypertrophic cardiomyopathy 8.4 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
40 long qt syndrome 11 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
41 jervell and lange-nielsen syndrome 1 8.3 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
42 familial atrial fibrillation 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
43 long qt syndrome 13 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
44 dilated cardiomyopathy 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
45 long qt syndrome 8.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
46 long qt syndrome 1 8.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
47 heart conduction disease 8.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
48 catecholaminergic polymorphic ventricular tachycardia 8.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
49 intrinsic cardiomyopathy 8.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
50 brugada syndrome 8.0 SNTA1 SCN5A SCN4B KCNQ1 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:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 sudden cardiac death 31 HP:0001645
3 prolonged qt interval 31 HP:0001657
4 atrioventricular block 31 HP:0001678
5 t-wave alternans 31 HP:0012266

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

MGI Mouse Phenotypes related to Long Qt Syndrome 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAV3 KCNJ2 KCNQ1 SCN5A SNTA1

Drugs & Therapeutics for Long Qt Syndrome 10

Search Clinical Trials , NIH Clinical Center for 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 29 SCN4B
2 Atrial Fibrillation, Familial, 17 29

Anatomical Context for Long Qt Syndrome 10

MalaCards organs/tissues related to Long Qt Syndrome 10:

40
Heart, Atrioventricular Node

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 6
23604097 2013
2
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 6 57
17592081 2007

Variations for Long Qt Syndrome 10

ClinVar genetic disease variations for Long Qt Syndrome 10:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN4B NM_174934.3(SCN4B):c.535C>T (p.Leu179Phe) SNV Pathogenic 2459 rs121434386 11:118011980-118011980 11:118141265-118141265
2 SCN4B NM_174934.3(SCN4B):c.485T>G (p.Val162Gly) SNV Pathogenic 140600 rs587777559 11:118012030-118012030 11:118141315-118141315
3 SCN4B NM_174934.3(SCN4B):c.496A>C (p.Ile166Leu) SNV Pathogenic 140601 rs587777560 11:118012019-118012019 11:118141304-118141304
4 SCN4B NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro) SNV Uncertain significance 943405 11:118015906-118015906 11:118145191-118145191
5 SCN4B NM_174934.3(SCN4B):c.18C>A (p.Asp6Glu) SNV Uncertain significance 190889 rs149979176 11:118023371-118023371 11:118152656-118152656
6 SCN4B NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly) SNV Uncertain significance 945872 11:118014652-118014652 11:118143937-118143937
7 SCN4B NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1]) Microsatellite Uncertain significance 948418 11:118011973-118011978 11:118141258-118141263
8 SCN4B NM_174934.3(SCN4B):c.632C>G (p.Thr211Arg) SNV Uncertain significance 190895 rs201454653 11:118007797-118007797 11:118137082-118137082
9 SCN4B NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro) SNV Uncertain significance 960482 11:118014712-118014712 11:118143997-118143997
10 SCN4B NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn) SNV Uncertain significance 961525 11:118014638-118014638 11:118143923-118143923
11 SCN4B NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu) SNV Uncertain significance 970001 11:118014725-118014725 11:118144010-118144010
12 SCN4B NM_174934.3(SCN4B):c.376A>G (p.Thr126Ala) SNV Uncertain significance 537383 rs1555097541 11:118014635-118014635 11:118143920-118143920
13 SCN4B NM_174934.3(SCN4B):c.568A>C (p.Ile190Leu) SNV Uncertain significance 537384 rs757147726 11:118011947-118011947 11:118141232-118141232
14 SCN4B NM_174934.3(SCN4B):c.613T>C (p.Ser205Pro) SNV Uncertain significance 560693 rs761183228 11:118007816-118007816 11:118137101-118137101
15 SCN4B NM_174934.3(SCN4B):c.520A>G (p.Ile174Val) SNV Uncertain significance 574219 rs377730779 11:118011995-118011995 11:118141280-118141280
16 SCN4B NM_174934.3(SCN4B):c.298C>T (p.Arg100Cys) SNV Uncertain significance 637988 rs149497652 11:118014713-118014713 11:118143998-118143998
17 SCN4B NM_174934.3(SCN4B):c.299G>A (p.Arg100His) SNV Uncertain significance 649165 rs779514077 11:118014712-118014712 11:118143997-118143997
18 SCN4B NM_174934.3(SCN4B):c.115A>G (p.Thr39Ala) SNV Uncertain significance 519285 rs756210130 11:118015891-118015891 11:118145176-118145176
19 ABCG4 NC_000011.9:g.(?_118007722)_(119170511_?)del Deletion Uncertain significance 659604 11:118007722-119170511
20 SCN4B NM_174934.3(SCN4B):c.40T>G (p.Trp14Gly) SNV Uncertain significance 663765 rs946169910 11:118023349-118023349 11:118152634-118152634
21 SCN4B NM_174934.3(SCN4B):c.61+1G>A SNV Uncertain significance 692252 rs377558816 11:118023327-118023327 11:118152612-118152612
22 SCN4B NM_174934.3(SCN4B):c.239T>C (p.Ile80Thr) SNV Uncertain significance 242024 rs546190140 11:118014772-118014772 11:118144057-118144057
23 SCN4B NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) SNV Uncertain significance 191380 rs140348243 11:118007812-118007812 11:118137097-118137097
24 SCN4B NM_174934.3(SCN4B):c.596A>G (p.Lys199Arg) SNV Uncertain significance 403961 rs758628437 11:118007833-118007833 11:118137118-118137118
25 SCN4B NM_174934.3(SCN4B):c.544C>G (p.Leu182Val) SNV Uncertain significance 403962 rs771565684 11:118011971-118011971 11:118141256-118141256
26 SCN4B NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro) SNV Uncertain significance 841169 11:118014658-118014658 11:118143943-118143943
27 SCN4B NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr) SNV Uncertain significance 855114 11:118015894-118015894 11:118145179-118145179
28 SCN4B NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer) Indel Uncertain significance 856814 11:118015912-118015917 11:118145197-118145202
29 SCN4B NM_174934.3(SCN4B):c.194A>T (p.His65Leu) SNV Likely benign 190891 rs112363898 11:118015812-118015812 11:118145097-118145097
30 SCN4B NM_174934.3(SCN4B):c.112G>C (p.Ala38Pro) SNV Likely benign 191497 rs777894412 11:118015894-118015894 11:118145179-118145179
31 SCN4B NM_174934.3(SCN4B):c.607G>A (p.Val203Met) SNV Likely benign 191547 rs150312046 11:118007822-118007822 11:118137107-118137107
32 SCN4B NM_174934.3(SCN4B):c.235-7C>T SNV Likely benign 697975 rs377621220 11:118014783-118014783 11:118144068-118144068
33 SCN4B NM_174934.3(SCN4B):c.174C>T (p.Cys58=) SNV Benign 139037 rs45539032 11:118015832-118015832 11:118145117-118145117
34 SCN4B NM_174934.3(SCN4B):c.480C>T (p.Asn160=) SNV Benign 378537 rs72546675 11:118012035-118012035 11:118141320-118141320
35 SCN4B NM_174934.3(SCN4B):c.22G>A (p.Gly8Ser) SNV Benign 190890 rs149868494 11:118023367-118023367 11:118152652-118152652
36 SCN4B NM_174934.3(SCN4B):c.639C>T (p.Asn213=) SNV Benign 139036 rs72544155 11:118007790-118007790 11:118137075-118137075

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
2
Show member pathways
12.23 SCN5A SCN4B KCNQ1 KCNE1
3
Show member pathways
12.09 KCNQ1 KCNJ2 KCNE2
4 12.08 KCNQ1 KCNJ2 KCNE2 KCNE1 AKAP9
5 11.86 SNTA1 SCN5A SCN4B KCNQ1 CAV3
6
Show member pathways
11.73 SCN5A SCN4B ANK2
7
Show member pathways
11.31 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 AKAP9
8 11.06 SCN5A SCN4B ANK2
9 10.92 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
10 10.82 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 10

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.09 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
2 cell surface GO:0009986 9.81 SCN5A KCNE2 KCNE1 CAV3
3 lysosome GO:0005764 9.76 KCNQ1 KCNE2 KCNE1 ANK2
4 membrane raft GO:0045121 9.67 KCNQ1 KCNE1 CAV3 ANK2
5 Z disc GO:0030018 9.62 SCN5A KCNE1 CAV3 ANK2
6 lateral plasma membrane GO:0016328 9.58 SNTA1 SCN5A KCNQ1
7 sarcolemma GO:0042383 9.56 SNTA1 SCN5A CAV3 ANK2
8 dystrophin-associated glycoprotein complex GO:0016010 9.49 SNTA1 CAV3
9 voltage-gated sodium channel complex GO:0001518 9.48 SCN5A SCN4B
10 T-tubule GO:0030315 9.46 SCN5A KCNJ2 CAV3 ANK2
11 voltage-gated potassium channel complex GO:0008076 9.35 KCNQ1 KCNJ2 KCNE2 KCNE1 AKAP9
12 intercalated disc GO:0014704 9.02 SCN5A SCN4B KCNJ2 CAV3 ANK2

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.06 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
2 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
3 potassium ion transport GO:0006813 9.9 KCNQ1 KCNJ2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.89 KCNQ1 KCNJ2 KCNE2 KCNE1
5 cellular response to cAMP GO:0071320 9.8 KCNQ1 KCNE1 AKAP9
6 cardiac muscle contraction GO:0060048 9.79 SCN5A SCN4B KCNQ1
7 regulation of heart rate GO:0002027 9.76 SNTA1 SCN5A CAV3 ANK2
8 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.75 KCNQ1 KCNE2 KCNE1
9 potassium ion export across plasma membrane GO:0097623 9.74 KCNQ1 KCNE2 KCNE1
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNQ1 KCNJ2 KCNE1
11 cardiac conduction GO:0061337 9.73 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1 AKAP9
12 regulation of cardiac muscle cell contraction GO:0086004 9.72 SCN5A KCNJ2 ANK2
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCNQ1 KCNE2 KCNE1
15 regulation of membrane repolarization GO:0060306 9.71 KCNQ1 KCNJ2 KCNE2 AKAP9
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.7 SCN5A SCN4B KCNJ2
17 ventricular cardiac muscle cell action potential GO:0086005 9.7 SNTA1 SCN5A KCNQ1 KCNE2 KCNE1 CAV3
18 potassium ion import across plasma membrane GO:1990573 9.69 KCNJ2 KCNE2
19 regulation of heart contraction GO:0008016 9.69 KCNQ1 CAV3
20 membrane repolarization GO:0086009 9.69 KCNQ1 KCNE2 KCNE1
21 regulation of calcium ion transport GO:0051924 9.68 CAV3 ANK2
22 positive regulation of microtubule polymerization GO:0031116 9.68 CAV3 AKAP9
23 regulation of cardiac muscle contraction GO:0055117 9.68 CAV3 ANK2
24 regulation of sodium ion transmembrane transporter activity GO:2000649 9.68 SCN4B CAV3
25 regulation of potassium ion transmembrane transport GO:1901379 9.67 KCNE2 KCNE1
26 positive regulation of sodium ion transport GO:0010765 9.67 SCN5A SCN4B
27 T-tubule organization GO:0033292 9.67 CAV3 ANK2
28 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNQ1 KCNJ2 KCNE1
29 membrane repolarization during action potential GO:0086011 9.67 KCNQ1 KCNJ2 KCNE2 KCNE1
30 regulation of sodium ion transmembrane transport GO:1902305 9.66 SNTA1 SCN5A
31 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.66 CAV3 AKAP9
32 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE2 KCNE1
33 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.65 SCN5A CAV3
34 negative regulation of voltage-gated potassium channel activity GO:1903817 9.65 KCNQ1 KCNE2
35 atrial cardiac muscle cell action potential GO:0086014 9.65 SCN5A KCNQ1 ANK2
36 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.64 ANK2 AKAP9
37 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A KCNQ1
38 membrane depolarization during SA node cell action potential GO:0086046 9.63 SCN5A ANK2
39 SA node cell action potential GO:0086015 9.63 SCN5A ANK2
40 AV node cell action potential GO:0086016 9.62 SCN5A SCN4B
41 regulation of calcium ion transmembrane transporter activity GO:1901019 9.61 CAV3 ANK2
42 regulation of heart rate by cardiac conduction GO:0086091 9.56 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
43 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.28 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.72 SNTA1 SCN5A KCNQ1
2 potassium channel activity GO:0005267 9.67 KCNQ1 KCNE2 KCNE1
3 voltage-gated potassium channel activity GO:0005249 9.65 KCNQ1 KCNE2 KCNE1
4 potassium channel regulator activity GO:0015459 9.61 KCNE2 KCNE1 AKAP9
5 sodium channel regulator activity GO:0017080 9.58 SNTA1 SCN4B CAV3
6 sodium channel activity GO:0005272 9.56 SCN5A SCN4B
7 protein kinase A regulatory subunit binding GO:0034237 9.54 KCNQ1 AKAP9
8 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNE2 KCNE1
9 voltage-gated sodium channel activity GO:0005248 9.52 SCN5A SCN4B
10 inward rectifier potassium channel activity GO:0005242 9.51 KCNJ2 KCNE2
11 nitric-oxide synthase binding GO:0050998 9.5 SNTA1 SCN5A CAV3
12 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.46 SCN5A SCN4B
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNQ1 KCNE2 KCNE1
14 voltage-gated ion channel activity GO:0005244 9.43 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.33 KCNQ1 KCNJ2 KCNE1
16 ion channel binding GO:0044325 9.28 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources for Long Qt Syndrome 10

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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