LQT12
MCID: LNG056
MIFTS: 42

Long Qt Syndrome 12 (LQT12)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Name: Long Qt Syndrome 12 57 11 73 28 12 5 43 14 71
Lqt12 57 11 73
Qt Syndrome, Long, Type 12 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
syncopal episodes
risk of sudden death due to cardiac arrhythmia


Classifications:



External Ids:

Disease Ontology 11 DOID:0110653
OMIM® 57 612955
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
MedGen 40 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 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 12, also known as lqt12, is related to cardiomyopathy, dilated, 3b and brugada syndrome 3, 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, heart-atrium and heart-ventricle, and related phenotypes are syncope and prolonged qtc interval

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.

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 68)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 3b 10.1 SNTA1 CAV3
2 brugada syndrome 3 10.1 KCNE2 ANK2
3 cardiomyopathy, familial hypertrophic, 4 10.1 ANK2 AKAP9
4 progressive familial heart block, type ia 10.0 SCN5A ANK2
5 ventricular tachycardia, catecholaminergic polymorphic, 3 10.0 KCNJ2 ANK2
6 progressive familial heart block 10.0 SCN5A KCNQ1
7 familial periodic paralysis 10.0 SCN5A KCNJ2
8 paroxysmal extreme pain disorder 10.0 SCN5A SCN4B
9 cardiac conduction defect 9.9 SCN5A KCNQ1
10 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2
11 generalized epilepsy with febrile seizures plus 9.9 SCN5A SCN4B ANK2
12 muscular dystrophy, becker type 9.9 SNTA1 CAV3
13 second-degree atrioventricular block 9.8 SCN5A KCNH2
14 diamond-blackfan anemia 3 9.8 SCN5A KCNH2
15 hyperkalemic periodic paralysis 9.8 SCN5A KCNJ2
16 trichothiodystrophy 7, nonphotosensitive 9.8 SCN5A KCNH2
17 benign familial neonatal epilepsy 9.8 KCNQ1 KCNE1
18 brugada syndrome 1 9.8 SCN5A KCNH2
19 deafness, autosomal recessive 98 9.7 KCNQ1 KCNE2 KCNE1
20 right bundle branch block 9.7 SCN5A KCNH2
21 sick sinus syndrome 9.7 SCN5A KCNE1
22 first-degree atrioventricular block 9.6 SCN5A KCNJ2 KCNH2
23 syncope 9.6 SCN5A KCNQ1 KCNH2
24 developmental and epileptic encephalopathy 14 9.6 SCN5A KCNQ1 KCNH2
25 noonan syndrome with multiple lentigines 9.6 SCN5A KCNQ1 KCNH2
26 wolff-parkinson-white syndrome 9.6 SCN5A KCNQ1 KCNH2
27 cardiac arrest 9.6 SCN5A KCNQ1 KCNH2
28 familial short qt syndrome 9.6 KCNQ1 KCNJ2 KCNH2
29 congestive heart failure 9.6 SCN5A KCNQ1 KCNJ2 KCNE2
30 rasopathy 9.5 SCN5A KCNQ1 KCNH2
31 cardiomyopathy, familial hypertrophic, 1 9.4 SCN5A KCNQ1 KCNH2 CAV3
32 arrhythmogenic right ventricular cardiomyopathy 9.4 SCN5A KCNQ1 KCNH2 ANK2
33 long qt syndrome 15 9.4 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
34 brugada syndrome 4 9.3 SCN5A KCNQ1 KCNJ2 KCNH2
35 familial long qt syndrome 9.3 SCN5A KCNQ1 KCNH2 KCNE1
36 sudden infant death syndrome 9.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
37 hypokalemic periodic paralysis, type 1 9.1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE1 CAV3
38 lipoprotein quantitative trait locus 9.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
39 ventricular fibrillation, paroxysmal familial, 1 9.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
40 long qt syndrome 14 9.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
41 sinoatrial node disease 9.0 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 ANK2
42 atrioventricular block 8.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
43 heart disease 8.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44 long qt syndrome 10 8.7 SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
45 long qt syndrome 11 8.7 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
46 third-degree atrioventricular block 8.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
47 heart conduction disease 8.5 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
48 short qt syndrome 8.5 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
49 left ventricular noncompaction 8.4 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
50 atrial fibrillation 8.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 30 Very rare (1%) HP:0001279
2 prolonged qtc interval 30 Very rare (1%) HP:0005184
3 ventricular fibrillation 30 HP:0001663
4 torsade de pointes 30 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM®:

612955 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 12:


syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.76 ANK2 CAV3 KCNE1 KCNH2 KCNJ2 KCNQ1
2 homeostasis/metabolism MP:0005376 9.61 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
3 growth/size/body region MP:0005378 9.28 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2

Drugs & Therapeutics for Long Qt Syndrome 12

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

Cochrane evidence based reviews: 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 28 SNTA1

Anatomical Context for Long Qt Syndrome 12

Organs/tissues related to Long Qt Syndrome 12:

MalaCards : Heart
ODiseA: Heart-Atrium, Heart-Ventricle, 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 5
19684871 2008
2
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 57 5
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. 62
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. 62
20920651 2010
6
Novel genes for QTc interval. How much heritability is explained, and how much is left to find? 62
20519034 2010
7
Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. 62
19185812 2008

Variations for Long Qt Syndrome 12

ClinVar genetic disease variations for Long Qt Syndrome 12:

5 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNTA1 NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) SNV Pathogenic
8476 rs121434500 GRCh37: 20:31998009-31998009
GRCh38: 20:33410203-33410203
2 SNTA1 NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) SNV Conflicting Interpretations Of Pathogenicity
263476 rs572545726 GRCh37: 20:32031206-32031206
GRCh38: 20:33443400-33443400
3 SNTA1 NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) SNV Conflicting Interpretations Of Pathogenicity
191548 rs56157422 GRCh37: 20:32000520-32000520
GRCh38: 20:33412714-33412714
4 SNTA1 NM_003098.3(SNTA1):c.1479C>T (p.Phe493=) SNV Uncertain Significance
338211 rs559827815 GRCh37: 20:31996352-31996352
GRCh38: 20:33408546-33408546
5 SNTA1 NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr) SNV Uncertain Significance
338220 rs886056627 GRCh37: 20:32031150-32031150
GRCh38: 20:33443344-33443344
6 SNTA1 NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) SNV Uncertain Significance
190934 rs786205848 GRCh37: 20:32031267-32031267
GRCh38: 20:33443461-33443461
7 SNTA1 NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) SNV Uncertain Significance
264021 rs886039012 GRCh37: 20:32031402-32031402
GRCh38: 20:33443596-33443596
8 SNTA1 NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys) SNV Uncertain Significance
809246 rs375515058 GRCh37: 20:31996677-31996677
GRCh38: 20:33408871-33408871
9 SNTA1 NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) SNV Uncertain Significance
496194 rs963277918 GRCh37: 20:32031326-32031326
GRCh38: 20:33443520-33443520
10 SNTA1 NM_003098.3(SNTA1):c.459G>T (p.Gln153His) SNV Uncertain Significance
811698 rs1471172997 GRCh37: 20:32026684-32026684
GRCh38: 20:33438878-33438878
11 SNTA1 NM_003098.3(SNTA1):c.115G>A (p.Val39Met) SNV Uncertain Significance
894981 rs755986911 GRCh37: 20:32031312-32031312
GRCh38: 20:33443506-33443506
12 SNTA1 NM_003098.3(SNTA1):c.992G>A (p.Arg331His) SNV Uncertain Significance
190917 rs575431717 GRCh37: 20:32000150-32000150
GRCh38: 20:33412344-33412344
13 SNTA1 NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) SNV Uncertain Significance
897983 rs750459988 GRCh37: 20:32000473-32000473
GRCh38: 20:33412667-33412667
14 SNTA1 NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) SNV Uncertain Significance
190914 rs150576530 GRCh37: 20:32000503-32000503
GRCh38: 20:33412697-33412697
15 SNTA1 NM_003098.2(SNTA1):c.-186C>T SNV Uncertain Significance
338224 rs886056629 GRCh37: 20:32031612-32031612
GRCh38: 20:33443806-33443806
16 SNTA1 NM_003098.2(SNTA1):c.-262C>T SNV Uncertain Significance
338229 rs550104436 GRCh37: 20:32031688-32031688
GRCh38: 20:33443882-33443882
17 SNTA1 NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) SNV Uncertain Significance
264348 rs771180054 GRCh37: 20:32005606-32005606
GRCh38: 20:33417800-33417800
18 SNTA1 NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) SNV Uncertain Significance
263623 rs144860423 GRCh37: 20:32005660-32005660
GRCh38: 20:33417854-33417854
19 SNTA1 NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) SNV Uncertain Significance
188145 rs370531842 GRCh37: 20:31996389-31996389
GRCh38: 20:33408583-33408583
20 SNTA1 NM_003098.3(SNTA1):c.312C>A (p.Gly104=) SNV Uncertain Significance
894980 rs533476140 GRCh37: 20:32026831-32026831
GRCh38: 20:33439025-33439025
21 SNTA1 NM_003098.3(SNTA1):c.210G>C (p.Pro70=) SNV Uncertain Significance
378629 rs751651742 GRCh37: 20:32031217-32031217
GRCh38: 20:33443411-33443411
22 SNTA1 NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) SNV Uncertain Significance
203366 rs373387978 GRCh37: 20:31997974-31997974
GRCh38: 20:33410168-33410168
23 SNTA1 NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) SNV Uncertain Significance
338218 rs775580363 GRCh37: 20:32005712-32005712
GRCh38: 20:33417906-33417906
24 SNTA1 NM_003098.2(SNTA1):c.-261C>A SNV Uncertain Significance
338228 rs536994978 GRCh37: 20:32031687-32031687
GRCh38: 20:33443881-33443881
25 SNTA1 NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) SNV Uncertain Significance
338213 rs771369802 GRCh37: 20:31997973-31997973
GRCh38: 20:33410167-33410167
26 SNTA1 NM_003098.3(SNTA1):c.1238-13G>C SNV Uncertain Significance
338212 rs748801869 GRCh37: 20:31996707-31996707
GRCh38: 20:33408901-33408901
27 SNTA1 NM_003098.3(SNTA1):c.*6G>A SNV Uncertain Significance
338210 rs565582070 GRCh37: 20:31996307-31996307
GRCh38: 20:33408501-33408501
28 SNTA1 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) SNV Uncertain Significance
190903 rs786205841 GRCh37: 20:32031299-32031299
GRCh38: 20:33443493-33443493
29 SNTA1 NM_003098.3(SNTA1):c.375G>C (p.Gln125His) SNV Uncertain Significance
191512 rs201421292 GRCh37: 20:32026768-32026768
GRCh38: 20:33438962-33438962
30 SNTA1 NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) SNV Uncertain Significance
190927 rs768377696 GRCh37: 20:31996327-31996327
GRCh38: 20:33408521-33408521
31 SNTA1 NM_003098.3(SNTA1):c.1238-14T>C SNV Uncertain Significance
896365 rs369876616 GRCh37: 20:31996708-31996708
GRCh38: 20:33408902-33408902
32 SNTA1 NM_003098.3(SNTA1):c.651G>A (p.Leu217=) SNV Uncertain Significance
338217 rs886056626 GRCh37: 20:32005575-32005575
GRCh38: 20:33417769-33417769
33 SNTA1 NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) SNV Uncertain Significance
190921 rs751302839 GRCh37: 20:31996676-31996676
GRCh38: 20:33408870-33408870
34 SNTA1 NM_003098.3(SNTA1):c.1181G>A (p.Arg394His) SNV Uncertain Significance
338214 rs750278583 GRCh37: 20:31997997-31997997
GRCh38: 20:33410191-33410191
35 SNTA1 NM_003098.3(SNTA1):c.-18G>A SNV Uncertain Significance
338221 rs886056628 GRCh37: 20:32031444-32031444
GRCh38: 20:33443638-33443638
36 SNTA1 NM_003098.3(SNTA1):c.*79C>A SNV Uncertain Significance
338209 rs78892511 GRCh37: 20:31996234-31996234
GRCh38: 20:33408428-33408428
37 SNTA1 NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) SNV Uncertain Significance
338215 rs754648214 GRCh37: 20:31998060-31998060
GRCh38: 20:33410254-33410254
38 SNTA1 NM_003098.3(SNTA1):c.-96G>C SNV Uncertain Significance
338222 rs145471317 GRCh37: 20:32031522-32031522
GRCh38: 20:33443716-33443716
39 SNTA1 NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser) SNV Uncertain Significance
431380 rs1135401951 GRCh37: 20:32031233-32031233
GRCh38: 20:33443427-33443427
40 SNTA1 NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) SNV Uncertain Significance
560703 rs1187536758 GRCh37: 20:31996593-31996593
GRCh38: 20:33408787-33408787
41 SNTA1 NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) SNV Uncertain Significance
190909 rs781703999 GRCh37: 20:32005700-32005700
GRCh38: 20:33417894-33417894
42 SNTA1 NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg) SNV Uncertain Significance
896366 rs1989758393 GRCh37: 20:32000117-32000117
GRCh38: 20:33412311-33412311
43 SNTA1 NM_003098.3(SNTA1):c.-42G>A SNV Uncertain Significance
896422 rs921708182 GRCh37: 20:32031468-32031468
GRCh38: 20:33443662-33443662
44 SNTA1 NM_003098.3(SNTA1):c.-62C>T SNV Uncertain Significance
896423 rs1990639431 GRCh37: 20:32031488-32031488
GRCh38: 20:33443682-33443682
45 SNTA1 NM_003098.3(SNTA1):c.-70C>A SNV Uncertain Significance
896424 rs930437100 GRCh37: 20:32031496-32031496
GRCh38: 20:33443690-33443690
46 SNTA1 NM_003098.3(SNTA1):c.816G>T (p.Thr272=) SNV Uncertain Significance
897984 rs371028127 GRCh37: 20:32000474-32000474
GRCh38: 20:33412668-33412668
47 SNTA1 NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg) SNV Uncertain Significance
897985 rs1989777102 GRCh37: 20:32000550-32000550
GRCh38: 20:33412744-33412744
48 SNTA1 NM_003098.3(SNTA1):c.*412G>C SNV Uncertain Significance
899048 rs566401281 GRCh37: 20:31995901-31995901
GRCh38: 20:33408095-33408095
49 SNTA1 NM_003098.3(SNTA1):c.*333G>A SNV Uncertain Significance
899049 rs1222182431 GRCh37: 20:31995980-31995980
GRCh38: 20:33408174-33408174
50 SNTA1 NM_003098.3(SNTA1):c.*231C>T SNV Uncertain Significance
899050 rs187657721 GRCh37: 20:31996082-31996082
GRCh38: 20:33408276-33408276

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
12.34 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2 12.09 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
3
Show member pathways
11.89 SCN5A SCN4B ANK2
4 11.83 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
5
Show member pathways
11.78 KCNQ1 KCNJ2 KCNH2
6 11.04 SCN5A SCN4B ANK2
7 10.99 SCN5A SCN4B
8 10.97 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
9 10.61 KCNQ1 KCNJ2 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 cell surface GO:0009986 10.15 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
2 lysosome GO:0005764 10.11 KCNQ1 KCNE2 KCNE1 ANK2
3 membrane raft GO:0045121 10.03 ANK2 CAV3 KCNE1 KCNQ1
4 Z disc GO:0030018 9.92 ANK2 CAV3 KCNE1 SCN5A
5 sarcolemma GO:0042383 9.86 SNTA1 SCN5A CAV3 ANK2
6 voltage-gated sodium channel complex GO:0001518 9.8 SCN5A SCN4B
7 lateral plasma membrane GO:0016328 9.8 SNTA1 SCN5A KCNQ1
8 dystrophin-associated glycoprotein complex GO:0016010 9.78 SNTA1 CAV3
9 T-tubule GO:0030315 9.76 SCN5A KCNJ2 CAV3 ANK2
10 intercalated disc GO:0014704 9.65 ANK2 CAV3 KCNJ2 SCN4B SCN5A
11 potassium channel complex GO:0034705 9.63 KCNQ1 AKAP9
12 voltage-gated potassium channel complex GO:0008076 9.4 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.28 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2 potassium ion import across plasma membrane GO:1990573 10.18 KCNQ1 KCNJ2 KCNH2 KCNE2
3 cardiac muscle contraction GO:0060048 10.17 SCN5A SCN4B KCNQ1 KCNH2
4 cellular response to xenobiotic stimulus GO:0071466 10.14 KCNQ1 KCNH2 KCNE2
5 positive regulation of potassium ion transmembrane transport GO:1901381 10.13 KCNQ1 KCNJ2 KCNH2 KCNE1
6 cellular response to cAMP GO:0071320 10.12 AKAP9 KCNE1 KCNQ1
7 potassium ion export across plasma membrane GO:0097623 10.11 KCNQ1 KCNH2 KCNE2 KCNE1
8 regulation of heart rate by cardiac conduction GO:0086091 10.11 KCNE2 KCNE1 ANK2 AKAP9 KCNH2 KCNJ2
9 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.1 KCNE1 KCNE2 KCNH2 KCNQ1
10 regulation of potassium ion transmembrane transport GO:1901379 10.09 KCNH2 KCNE2 KCNE1
11 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.09 SCN5A SCN4B KCNJ2
12 regulation of heart rate GO:0002027 10.09 ANK2 CAV3 KCNQ1 SCN5A SNTA1
13 sodium ion transport GO:0006814 10.08 SCN5A SCN4B KCNQ1
14 regulation of cardiac muscle cell contraction GO:0086004 10.08 SCN5A KCNJ2 ANK2
15 monoatomic ion transport GO:0006811 10.08 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
16 atrial cardiac muscle cell action potential GO:0086014 10.07 SCN5A KCNQ1 ANK2
17 cardiac muscle cell action potential involved in contraction GO:0086002 10.07 KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.06 KCNQ1 KCNJ2 KCNH2 KCNE1
19 potassium ion transport GO:0006813 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
20 membrane repolarization GO:0086009 10.02 KCNQ1 KCNH2 KCNE2 KCNE1
21 regulation of membrane repolarization GO:0060306 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
22 regulation of monoatomic ion transmembrane transport GO:0034765 10.01 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
23 positive regulation of microtubule polymerization GO:0031116 10 CAV3 AKAP9
24 potassium ion homeostasis GO:0055075 10 KCNQ1 KCNH2
25 negative regulation of delayed rectifier potassium channel activity GO:1902260 10 KCNE1 KCNE2 KCNQ1
26 regulation of cardiac muscle contraction GO:0055117 9.99 CAV3 ANK2
27 regulation of sodium ion transmembrane transporter activity GO:2000649 9.99 SCN4B CAV3
28 membrane depolarization during action potential GO:0086010 9.99 SCN5A KCNH2
29 positive regulation of sodium ion transport GO:0010765 9.99 SCN5A SCN4B
30 positive regulation of voltage-gated calcium channel activity GO:1901387 9.98 KCNE2 KCNE1
31 negative regulation of potassium ion transmembrane transport GO:1901380 9.98 CAV3 KCNH2
32 regulation of sodium ion transmembrane transport GO:1902305 9.97 SNTA1 SCN5A
33 T-tubule organization GO:0033292 9.97 CAV3 ANK2
34 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.97 CAV3 AKAP9
35 regulation of delayed rectifier potassium channel activity GO:1902259 9.96 KCNE2 KCNE1
36 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.96 ANK2 AKAP9
37 membrane repolarization during action potential GO:0086011 9.96 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
38 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.96 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
39 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.95 SCN5A CAV3
40 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.95 SCN5A KCNQ1
41 membrane depolarization during SA node cell action potential GO:0086046 9.94 SCN5A ANK2
42 SA node cell action potential GO:0086015 9.93 SCN5A ANK2
43 AV node cell action potential GO:0086016 9.93 SCN5A SCN4B
44 regulation of calcium ion transmembrane transporter activity GO:1901019 9.92 CAV3 ANK2
45 regulation of calcium ion transport GO:0051924 9.88 CAV3 ANK2
46 negative regulation of voltage-gated potassium channel activity GO:1903817 9.73 KCNE1 KCNE2 KCNQ1
47 ventricular cardiac muscle cell action potential GO:0086005 9.53 ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 10 SCN5A KCNQ1 KCNH2
2 potassium channel regulator activity GO:0015459 9.97 AKAP9 KCNE1 KCNE2
3 sodium channel regulator activity GO:0017080 9.95 SNTA1 SCN4B CAV3
4 voltage-gated potassium channel activity GO:0005249 9.95 KCNQ1 KCNH2 KCNE2 KCNE1
5 inward rectifier potassium channel activity GO:0005242 9.93 KCNJ2 KCNH2 KCNE2
6 delayed rectifier potassium channel activity GO:0005251 9.92 KCNQ1 KCNH2 KCNE2 KCNE1
7 nitric-oxide synthase binding GO:0050998 9.91 SNTA1 SCN5A CAV3
8 protein kinase A regulatory subunit binding GO:0034237 9.87 KCNQ1 AKAP9
9 voltage-gated sodium channel activity GO:0005248 9.86 SCN5A SCN4B
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
11 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.81 SCN5A SCN4B
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.76 KCNQ1 KCNJ2 KCNH2 KCNE1
13 monoatomic ion channel activity GO:0005216 9.71 SCN5A KCNQ1 KCNH2
14 potassium channel activity GO:0005267 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
15 voltage-gated monoatomic ion channel activity GO:0005244 9.61 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN4B
16 transmembrane transporter binding GO:0044325 9.58 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
17 sodium channel activity GO:0005272 9.55 SCN5A SCN4B

Sources for Long Qt Syndrome 12

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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