LQT12
MCID: LNG056
MIFTS: 41

Long Qt Syndrome 12 (LQT12)

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

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Name: Long Qt Syndrome 12 57 12 73 29 13 6 15 71
Lqt12 57 12 73
Qt Syndrome, Long, Type 12 39

Characteristics:

OMIM®:

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

Miscellaneous:
syncopal episodes
risk of sudden death due to cardiac arrhythmia


HPO:

31
long qt syndrome 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110653
OMIM® 57 612955
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
MedGen 41 C2751830
UMLS 71 C2751830

Summaries for Long Qt Syndrome 12

OMIM® : 57 Congenital long QT syndrome (LQTS) 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). (612955) (Updated 05-Mar-2021)

MalaCards based summary : Long Qt Syndrome 12, also known as lqt12, is related to erythromelalgia and progressive familial heart block, type ia, and has symptoms including syncopal episode An important gene associated with Long Qt Syndrome 12 is SNTA1 (Syntrophin Alpha 1), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. Affiliated tissues include heart, and related phenotypes are syncope and ventricular fibrillation

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.

UniProtKB/Swiss-Prot : 73 Long QT syndrome 12: 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.

Related Diseases for Long Qt Syndrome 12

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 erythromelalgia 10.0 SCN5A SCN4B
2 progressive familial heart block, type ia 9.9 SCN5A ANK2
3 brugada syndrome 3 9.9 KCNE2 ANK2
4 paroxysmal extreme pain disorder 9.9 SCN5A SCN4B
5 first-degree atrioventricular block 9.8 SCN5A KCNH2
6 sick sinus syndrome 9.8 SNTA1 SCN5A ANK2
7 third-degree atrioventricular block 9.8 SCN5A KCNH2
8 familial short qt syndrome 9.8 KCNQ1 KCNH2
9 right bundle branch block 9.8 SCN5A KCNH2
10 deafness, autosomal recessive 98 9.7 KCNQ1 KCNE2 KCNE1
11 neuromuscular junction disease 9.7 SCN5A KCNH2
12 brugada syndrome 1 9.7 SCN5A KCNH2 AKAP9
13 malignant hyperthermia 9.7 SCN5A KCNH2 CAV3
14 long qt syndrome 14 9.6 SCN5A KCNQ1 KCNH2
15 developmental and epileptic encephalopathy 14 9.6 SCN5A KCNQ1 KCNH2
16 brugada syndrome 4 9.6 SCN5A KCNQ1 KCNH2
17 syncope 9.6 SCN5A KCNQ1 KCNH2
18 cardiac conduction defect 9.6 SCN5A KCNQ1 KCNH2
19 cardiomyopathy, familial hypertrophic, 1 9.6 SCN5A KCNH2 CAV3
20 noonan syndrome with multiple lentigines 9.6 SCN5A KCNQ1 KCNH2
21 progressive familial heart block 9.6 SCN5A KCNQ1 KCNH2
22 neuromuscular disease 9.6 SCN5A KCNH2 CAV3
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.5 SCN5A KCNQ1 KCNH2
24 supravalvular aortic stenosis 9.5 SCN5A KCNH2
25 rasopathy 9.5 SCN5A KCNQ1 KCNH2
26 early infantile epileptic encephalopathy 9.4 SCN5A SCN4B KCNQ1 KCNH2
27 sinoatrial node disease 9.3 SCN5A KCNQ1 KCNH2 ANK2
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 SCN5A KCNQ1 KCNH2 ANK2
29 left ventricular noncompaction 9.2 SNTA1 SCN5A KCNQ1 KCNH2 KCNE1
30 ventricular fibrillation, paroxysmal familial, 1 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
31 short qt syndrome 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
32 myasthenic syndrome, congenital, 5 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
33 atrioventricular block 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
34 cardiac arrest 9.1 SCN5A KCNQ1 KCNH2 ANK2 AKAP9
35 arrhythmogenic right ventricular cardiomyopathy 9.1 SCN5A KCNH2 KCNE1 ANK2 AKAP9
36 lipoprotein quantitative trait locus 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
37 cardiac arrhythmia 8.9 SCN5A KCNQ1 KCNH2 KCNE2 ANK2 AKAP9
38 congenital myasthenic syndrome 8.8 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
39 long qt syndrome 11 8.7 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
40 heart disease 8.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 ANK2
41 sudden infant death syndrome 8.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
42 long qt syndrome 10 8.5 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
43 atrial fibrillation 8.4 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
44 hypertrophic cardiomyopathy 8.4 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
45 jervell and lange-nielsen syndrome 1 8.3 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
46 familial atrial fibrillation 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
47 long qt syndrome 13 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
48 dilated cardiomyopathy 8.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
49 long qt syndrome 1 8.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
50 long qt syndrome 8.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 12:



Diseases related to Long Qt Syndrome 12

Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 ventricular fibrillation 31 HP:0001663
3 prolonged qtc interval 31 HP:0005184
4 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM®:

612955 (Updated 05-Mar-2021)

UMLS symptoms related to Long Qt Syndrome 12:


syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAV3 KCNH2 KCNQ1 SCN5A SNTA1

Drugs & Therapeutics for Long Qt Syndrome 12

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 12

Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 12 29 SNTA1

Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

40
Heart

Publications for Long Qt Syndrome 12

Articles related to Long Qt Syndrome 12:

# Title Authors PMID Year
1
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 57 6
19684871 2008
2
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 6 57
18591664 2008
3
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
4
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. 61
29874177 2018
5
Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. 61
20920651 2010
6
Novel genes for QTc interval. How much heritability is explained, and how much is left to find? 61
20519034 2010
7
Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. 61
19185812 2008

Variations for Long Qt Syndrome 12

ClinVar genetic disease variations for Long Qt Syndrome 12:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNTA1 NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val) SNV Pathogenic 8476 rs121434500 20:31998009-31998009 20:33410203-33410203
2 SNTA1 NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) SNV Conflicting interpretations of pathogenicity 191548 rs56157422 20:32000520-32000520 20:33412714-33412714
3 SNTA1 NM_003098.2(SNTA1):c.566C>T (p.Ser189Leu) SNV Conflicting interpretations of pathogenicity 263623 rs144860423 20:32005660-32005660 20:33417854-33417854
4 SNTA1 NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) SNV Conflicting interpretations of pathogenicity 263476 rs572545726 20:32031206-32031206 20:33443400-33443400
5 SNTA1 NM_003098.2(SNTA1):c.787G>T (p.Ala263Ser) SNV Uncertain significance 190914 rs150576530 20:32000503-32000503 20:33412697-33412697
6 SNTA1 NM_003098.2(SNTA1):c.1339C>T (p.Arg447Ter) SNV Uncertain significance 560703 rs1187536758 20:31996593-31996593 20:33408787-33408787
7 SNTA1 NM_003098.2(SNTA1):c.*6G>A SNV Uncertain significance 338210 rs565582070 20:31996307-31996307 20:33408501-33408501
8 SNTA1 NM_003098.2(SNTA1):c.194A>G (p.Asn65Ser) SNV Uncertain significance 431380 rs1135401951 20:32031233-32031233 20:33443427-33443427
9 SNTA1 NM_003098.2(SNTA1):c.375G>C (p.Gln125His) SNV Uncertain significance 191512 rs201421292 20:32026768-32026768 20:33438962-33438962
10 SNTA1 NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln) SNV Uncertain significance 264348 rs771180054 20:32005606-32005606 20:33417800-33417800
11 SNTA1 NM_003098.2(SNTA1):c.1238-13G>C SNV Uncertain significance 338212 rs748801869 20:31996707-31996707 20:33408901-33408901
12 SNTA1 NM_003098.2(SNTA1):c.-262C>T SNV Uncertain significance 338229 rs550104436 20:32031688-32031688 20:33443882-33443882
13 SNTA1 NM_003098.2(SNTA1):c.526T>C (p.Phe176Leu) SNV Uncertain significance 190909 rs781703999 20:32005700-32005700 20:33417894-33417894
14 SNTA1 NM_003098.2(SNTA1):c.128G>A (p.Ser43Asn) SNV Uncertain significance 190903 rs786205841 20:32031299-32031299 20:33443493-33443493
15 SNTA1 NM_003098.2(SNTA1):c.651G>A (p.Leu217=) SNV Uncertain significance 338217 rs886056626 20:32005575-32005575 20:33417769-33417769
16 SNTA1 NM_003098.2(SNTA1):c.1256G>A (p.Arg419His) SNV Uncertain significance 190921 rs751302839 20:31996676-31996676 20:33408870-33408870
17 SNTA1 NM_003098.2(SNTA1):c.514G>A (p.Val172Ile) SNV Uncertain significance 338218 rs775580363 20:32005712-32005712 20:33417906-33417906
18 SNTA1 NM_003098.2(SNTA1):c.1181G>A (p.Arg394His) SNV Uncertain significance 338214 rs750278583 20:31997997-31997997 20:33410191-33410191
19 SNTA1 NM_003098.2(SNTA1):c.-261C>A SNV Uncertain significance 338228 rs536994978 20:32031687-32031687 20:33443881-33443881
20 SNTA1 NM_003098.2(SNTA1):c.277G>A (p.Ala93Thr) SNV Uncertain significance 338220 rs886056627 20:32031150-32031150 20:33443344-33443344
21 SNTA1 NM_003098.2(SNTA1):c.-18G>A SNV Uncertain significance 338221 rs886056628 20:32031444-32031444 20:33443638-33443638
22 SNTA1 NM_003098.2(SNTA1):c.*79C>A SNV Uncertain significance 338209 rs78892511 20:31996234-31996234 20:33408428-33408428
23 SNTA1 NM_003098.2(SNTA1):c.1205G>A (p.Arg402Gln) SNV Uncertain significance 338213 rs771369802 20:31997973-31997973 20:33410167-33410167
24 SNTA1 NM_003098.2(SNTA1):c.1204C>T (p.Arg402Trp) SNV Uncertain significance 203366 rs373387978 20:31997974-31997974 20:33410168-33410168
25 SNTA1 NM_003098.2(SNTA1):c.-186C>T SNV Uncertain significance 338224 rs886056629 20:32031612-32031612 20:33443806-33443806
26 SNTA1 NM_003098.2(SNTA1):c.1118G>A (p.Arg373His) SNV Uncertain significance 338215 rs754648214 20:31998060-31998060 20:33410254-33410254
27 SNTA1 NM_003098.2(SNTA1):c.-96G>C SNV Uncertain significance 338222 rs145471317 20:32031522-32031522 20:33443716-33443716
28 SNTA1 NM_003098.2(SNTA1):c.1479C>T (p.Phe493=) SNV Uncertain significance 338211 rs559827815 20:31996352-31996352 20:33408546-33408546
29 SNTA1 NM_003098.3(SNTA1):c.459G>T (p.Gln153His) SNV Uncertain significance 811698 rs1471172997 20:32026684-32026684 20:33438878-33438878
30 SNTA1 NM_003098.2(SNTA1):c.1504G>A (p.Gly502Arg) SNV Uncertain significance 190927 20:31996327-31996327 20:33408521-33408521
31 SNTA1 NM_003098.2(SNTA1):c.1442C>T (p.Ser481Leu) SNV Uncertain significance 188145 rs370531842 20:31996389-31996389 20:33408583-33408583
32 SNTA1 NM_003098.3(SNTA1):c.312C>A (p.Gly104=) SNV Uncertain significance 894980 20:32026831-32026831 20:33439025-33439025
33 SNTA1 NM_003098.2(SNTA1):c.210G>C (p.Pro70=) SNV Uncertain significance 378629 rs751651742 20:32031217-32031217 20:33443411-33443411
34 SNTA1 NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) SNV Uncertain significance 897983 20:32000473-32000473 20:33412667-33412667
35 SNTA1 NM_003098.3(SNTA1):c.816G>T (p.Thr272=) SNV Uncertain significance 897984 20:32000474-32000474 20:33412668-33412668
36 SNTA1 NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg) SNV Uncertain significance 897985 20:32000550-32000550 20:33412744-33412744
37 SNTA1 NM_003098.3(SNTA1):c.*412G>C SNV Uncertain significance 899048 20:31995901-31995901 20:33408095-33408095
38 SNTA1 NM_003098.3(SNTA1):c.*333G>A SNV Uncertain significance 899049 20:31995980-31995980 20:33408174-33408174
39 SNTA1 NM_003098.3(SNTA1):c.*231C>T SNV Uncertain significance 899050 20:31996082-31996082 20:33408276-33408276
40 SNTA1 NM_003098.3(SNTA1):c.*132C>T SNV Uncertain significance 899051 20:31996181-31996181 20:33408375-33408375
41 SNTA1 NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg) SNV Uncertain significance 896366 20:32000117-32000117 20:33412311-33412311
42 SNTA1 NM_003098.2(SNTA1):c.992G>A (p.Arg331His) SNV Uncertain significance 190917 rs575431717 20:32000150-32000150 20:33412344-33412344
43 SNTA1 NM_003098.3(SNTA1):c.-42G>A SNV Uncertain significance 896422 20:32031468-32031468 20:33443662-33443662
44 SNTA1 NM_003098.3(SNTA1):c.-62C>T SNV Uncertain significance 896423 20:32031488-32031488 20:33443682-33443682
45 SNTA1 NM_003098.3(SNTA1):c.-70C>A SNV Uncertain significance 896424 20:32031496-32031496 20:33443690-33443690
46 SNTA1 NM_003098.3(SNTA1):c.115G>A (p.Val39Met) SNV Uncertain significance 894981 20:32031312-32031312 20:33443506-33443506
47 SNTA1 NM_003098.3(SNTA1):c.1238-14T>C SNV Uncertain significance 896365 20:31996708-31996708 20:33408902-33408902
48 SNTA1 NM_003098.3(SNTA1):c.538A>G (p.Thr180Ala) SNV Uncertain significance 899113 20:32005688-32005688 20:33417882-33417882
49 SNTA1 NM_003098.2(SNTA1):c.160G>C (p.Gly54Arg) SNV Uncertain significance 190934 rs786205848 20:32031267-32031267 20:33443461-33443461
50 SNTA1 NM_003098.3(SNTA1):c.25C>T SNV Uncertain significance 264021 rs886039012 20:32031402-32031402 20:33443596-33443596

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 12:

73
# Symbol AA change Variation ID SNP ID
1 SNTA1 p.Ala257Gly VAR_062399 rs56157422
2 SNTA1 p.Ala390Val VAR_062400 rs121434500

Expression for Long Qt Syndrome 12

Search GEO for disease gene expression data for Long Qt Syndrome 12.

Pathways for Long Qt Syndrome 12

Pathways related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
2
Show member pathways
12.21 SCN5A SCN4B KCNQ1 KCNE1
3 12.08 KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
4 11.94 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
5
Show member pathways
11.71 SCN5A SCN4B ANK2
6
Show member pathways
11.31 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 AKAP9
7 11.02 SCN5A SCN4B ANK2
8 10.92 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
9 10.74 KCNQ1 KCNE1

GO Terms for Long Qt Syndrome 12

Cellular components related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.11 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
2 lysosome GO:0005764 9.78 KCNQ1 KCNE2 KCNE1 ANK2
3 cell surface GO:0009986 9.77 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 membrane raft GO:0045121 9.71 KCNQ1 KCNE1 CAV3 ANK2
5 lateral plasma membrane GO:0016328 9.61 SNTA1 SCN5A KCNQ1
6 Z disc GO:0030018 9.56 SCN5A KCNE1 CAV3 ANK2
7 dystrophin-associated glycoprotein complex GO:0016010 9.51 SNTA1 CAV3
8 T-tubule GO:0030315 9.5 SCN5A CAV3 ANK2
9 voltage-gated sodium channel complex GO:0001518 9.49 SCN5A SCN4B
10 sarcolemma GO:0042383 9.46 SNTA1 SCN5A CAV3 ANK2
11 intercalated disc GO:0014704 9.26 SCN5A SCN4B CAV3 ANK2
12 voltage-gated potassium channel complex GO:0008076 9.02 KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9

Biological processes related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.06 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
2 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
3 potassium ion transport GO:0006813 9.9 KCNQ1 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
5 cardiac muscle contraction GO:0060048 9.83 SCN5A SCN4B KCNQ1 KCNH2
6 cellular response to drug GO:0035690 9.81 KCNQ1 KCNH2 KCNE2
7 regulation of heart rate GO:0002027 9.81 SNTA1 SCN5A CAV3 ANK2
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A SCN4B KCNE2 KCNE1
9 cellular response to cAMP GO:0071320 9.79 KCNQ1 KCNE1 AKAP9
10 potassium ion export across plasma membrane GO:0097623 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
12 regulation of heart rate by cardiac conduction GO:0086091 9.76 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
13 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNH2 KCNE2 KCNE1
14 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.74 KCNQ1 KCNE2 KCNE1
15 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNQ1 KCNH2 KCNE1
16 cardiac conduction GO:0061337 9.73 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 KCNQ1 KCNH2 KCNE1
18 atrial cardiac muscle cell action potential GO:0086014 9.71 SCN5A KCNQ1 ANK2
19 membrane repolarization GO:0086009 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
20 potassium ion import across plasma membrane GO:1990573 9.7 KCNH2 KCNE2
21 regulation of heart contraction GO:0008016 9.7 KCNQ1 CAV3
22 regulation of calcium ion transport GO:0051924 9.69 CAV3 ANK2
23 positive regulation of microtubule polymerization GO:0031116 9.69 CAV3 AKAP9
24 regulation of cardiac muscle contraction GO:0055117 9.69 CAV3 ANK2
25 regulation of sodium ion transmembrane transporter activity GO:2000649 9.68 SCN4B CAV3
26 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
27 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A SCN4B
28 regulation of cardiac muscle cell contraction GO:0086004 9.68 SCN5A ANK2
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 SCN5A SCN4B
30 negative regulation of potassium ion transmembrane transport GO:1901380 9.67 KCNH2 CAV3
31 T-tubule organization GO:0033292 9.67 CAV3 ANK2
32 regulation of membrane repolarization GO:0060306 9.67 KCNQ1 KCNH2 KCNE2 AKAP9
33 regulation of sodium ion transmembrane transport GO:1902305 9.66 SNTA1 SCN5A
34 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.66 CAV3 AKAP9
35 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE2 KCNE1
36 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.65 SCN5A CAV3
37 negative regulation of voltage-gated potassium channel activity GO:1903817 9.65 KCNQ1 KCNE2
38 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.64 ANK2 AKAP9
39 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A KCNQ1
40 membrane depolarization during SA node cell action potential GO:0086046 9.63 SCN5A ANK2
41 SA node cell action potential GO:0086015 9.62 SCN5A ANK2
42 membrane repolarization during action potential GO:0086011 9.62 KCNQ1 KCNH2 KCNE2 KCNE1
43 AV node cell action potential GO:0086016 9.61 SCN5A SCN4B
44 regulation of calcium ion transmembrane transporter activity GO:1901019 9.61 CAV3 ANK2
45 ventricular cardiac muscle cell action potential GO:0086005 9.56 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
46 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.32 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

Molecular functions related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.74 SNTA1 SCN5A KCNQ1
2 ion channel activity GO:0005216 9.72 SCN5A KCNQ1 KCNH2
3 potassium channel activity GO:0005267 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 9.67 SCN5A KCNQ1 KCNH2
5 voltage-gated potassium channel activity GO:0005249 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
6 potassium channel regulator activity GO:0015459 9.65 KCNE2 KCNE1 AKAP9
7 sodium channel regulator activity GO:0017080 9.63 SNTA1 SCN4B CAV3
8 nitric-oxide synthase binding GO:0050998 9.61 SNTA1 SCN5A CAV3
9 sodium channel activity GO:0005272 9.58 SCN5A SCN4B
10 protein kinase A regulatory subunit binding GO:0034237 9.56 KCNQ1 AKAP9
11 delayed rectifier potassium channel activity GO:0005251 9.56 KCNQ1 KCNH2 KCNE2 KCNE1
12 voltage-gated sodium channel activity GO:0005248 9.54 SCN5A SCN4B
13 inward rectifier potassium channel activity GO:0005242 9.52 KCNH2 KCNE2
14 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.51 SCN5A SCN4B
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNQ1 KCNH2 KCNE1
16 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
17 voltage-gated ion channel activity GO:0005244 9.43 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
18 ion channel binding GO:0044325 9.28 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources for Long Qt Syndrome 12

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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