LQT11
MCID: LNG046
MIFTS: 39

Long Qt Syndrome 11 (LQT11)

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

Aliases & Classifications for Long Qt Syndrome 11

MalaCards integrated aliases for Long Qt Syndrome 11:

Name: Long Qt Syndrome 11 57 12 20 73 29 6 15 71
Lqt11 57 12 20 73
Qt Syndrome, Long, Type 11 39
Long Qt Syndrome-11 13

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 family (last curated april 2017)


HPO:

31
long qt syndrome 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110652
OMIM® 57 611820
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
MedGen 41 C2678483
UMLS 71 C2678483

Summaries for Long Qt Syndrome 11

UniProtKB/Swiss-Prot : 73 Long QT syndrome 11: 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 11, also known as lqt11, is related to deafness, autosomal recessive 98 and familial short qt syndrome, and has symptoms including syncope An important gene associated with Long Qt Syndrome 11 is AKAP9 (A-Kinase Anchoring Protein 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and syncope

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.

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). (611820) (Updated 05-Mar-2021)

Related Diseases for Long Qt Syndrome 11

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 98 9.9 KCNQ1 KCNE2 KCNE1
2 familial short qt syndrome 9.8 KCNQ1 KCNJ2
3 brugada syndrome 3 9.8 KCNE2 CACNA1C ANK2
4 cardiac conduction defect 9.8 KCNQ1 CACNA1C
5 sick sinus syndrome 9.8 SNTA1 CACNA1C ANK2
6 cardiac arrest 9.8 KCNQ1 ANK2 AKAP9
7 familial periodic paralysis 9.7 KCNJ2 CACNA1C
8 long qt syndrome 15 9.7 KCNJ2 KCNE1 CACNA1C
9 long qt syndrome 14 9.7 KCNQ1 KCNJ2 CACNA1C
10 brugada syndrome 4 9.6 KCNQ1 KCNJ2 CACNA1C
11 hypokalemic periodic paralysis, type 1 9.6 KCNJ2 KCNE1 CACNA1C
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 KCNQ1 KCNJ2 ANK2
13 atrioventricular block 9.6 KCNQ1 KCNE2 KCNE1 CACNA1C
14 arrhythmogenic right ventricular cardiomyopathy 9.6 KCNE1 CACNA1C ANK2 AKAP9
15 chromosome 2q35 duplication syndrome 9.5 KCNQ1 KCNJ2 CACNA1C
16 early infantile epileptic encephalopathy 9.5 SCN4B KCNQ1 CACNA1C
17 cardiac arrhythmia 9.4 KCNQ1 KCNE2 CACNA1C ANK2 AKAP9
18 sinoatrial node disease 9.4 KCNQ1 KCNJ2 CACNA1C ANK2
19 left ventricular noncompaction 9.3 SNTA1 KCNQ1 KCNJ2 KCNE1 CACNA1C
20 short qt syndrome 9.3 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
21 myasthenic syndrome, congenital, 5 9.3 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
22 ventricular fibrillation, paroxysmal familial, 1 9.2 KCNQ1 KCNJ5 KCNE2 KCNE1 CACNA1C
23 lipoprotein quantitative trait locus 9.0 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
24 sudden infant death syndrome 9.0 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
25 atrial fibrillation 9.0 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
26 familial long qt syndrome 9.0 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
27 long qt syndrome 12 9.0 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
28 hypertrophic cardiomyopathy 8.6 KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3 CACNA1C
29 long qt syndrome 10 8.6 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
30 heart disease 8.5 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
31 jervell and lange-nielsen syndrome 1 8.5 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
32 congenital myasthenic syndrome 8.5 SNTA1 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
33 long qt syndrome 13 8.4 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
34 intrinsic cardiomyopathy 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
35 long qt syndrome 5 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
36 long qt syndrome 9 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
37 long qt syndrome 3 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
38 timothy syndrome 8.3 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
39 familial atrial fibrillation 8.1 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
40 dilated cardiomyopathy 8.1 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
41 long qt syndrome 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
42 long qt syndrome 1 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
43 heart conduction disease 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
44 catecholaminergic polymorphic ventricular tachycardia 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
45 brugada syndrome 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
46 long qt syndrome 6 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
47 long qt syndrome 2 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
48 cardiac arrhythmia, ankyrin-b-related 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
49 andersen cardiodysrhythmic periodic paralysis 7.9 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 11:



Diseases related to Long Qt Syndrome 11

Symptoms & Phenotypes for Long Qt Syndrome 11

Human phenotypes related to Long Qt Syndrome 11:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 syncope 31 HP:0001279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
syncope
prolongation of corrected qt interval

Clinical features from OMIM®:

611820 (Updated 05-Mar-2021)

UMLS symptoms related to Long Qt Syndrome 11:


syncope

Drugs & Therapeutics for Long Qt Syndrome 11

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 11

Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 11 29 AKAP9

Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

40
Heart

Publications for Long Qt Syndrome 11

Articles related to Long Qt Syndrome 11:

# Title Authors PMID Year
1
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 57 6
18093912 2007
2
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
3
Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey. 61
33367591 2020

Variations for Long Qt Syndrome 11

ClinVar genetic disease variations for Long Qt Syndrome 11:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AKAP9 NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu) SNV Pathogenic 5883 rs121908566 7:91670004-91670004 7:92040690-92040690
2 AKAP9 NM_005751.4(AKAP9):c.1489G>T (p.Glu497Ter) SNV Likely pathogenic 180261 rs730880043 7:91630720-91630720 7:92001406-92001406
3 AKAP9 NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) SNV Uncertain significance 191526 rs61757664 7:91726960-91726960 7:92097646-92097646
4 AKAP9 NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn) SNV Uncertain significance 190513 rs148920964 7:91623968-91623968 7:91994654-91994654
5 AKAP9 NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) SNV Uncertain significance 180262 rs139965373 7:91643610-91643610 7:92014296-92014296
6 AKAP9 NM_005751.4(AKAP9):c.4189C>G (p.Gln1397Glu) SNV Uncertain significance 417869 rs749340561 7:91659249-91659249 7:92029935-92029935
7 AKAP9 NM_005751.4(AKAP9):c.6896A>G (p.Glu2299Gly) SNV Uncertain significance 360836 rs147841245 7:91707140-91707140 7:92077826-92077826
8 AKAP9 NM_005751.4(AKAP9):c.2284A>G (p.Lys762Glu) SNV Uncertain significance 488172 rs776287498 7:91631515-91631515 7:92002201-92002201
9 AKAP9 NM_005751.4(AKAP9):c.3118A>G (p.Lys1040Glu) SNV Uncertain significance 457096 rs1265369157 7:91632349-91632349 7:92003035-92003035
10 AKAP9 NM_005751.4(AKAP9):c.5048C>T (p.Thr1683Met) SNV Uncertain significance 240254 rs146305558 7:91671490-91671490 7:92042176-92042176
11 AKAP9 NM_005751.4(AKAP9):c.6439G>C (p.Glu2147Gln) SNV Uncertain significance 637986 rs373725997 7:91699452-91699452 7:92070138-92070138
12 AKAP9 NM_005751.4(AKAP9):c.5035C>T (p.Arg1679Cys) SNV Uncertain significance 639119 rs200044616 7:91671477-91671477 7:92042163-92042163
13 AKAP9 NM_005751.4(AKAP9):c.7166A>G (p.Asp2389Gly) SNV Uncertain significance 417034 rs140782750 7:91708613-91708613 7:92079299-92079299
14 AKAP9 NM_005751.4(AKAP9):c.3113T>C (p.Val1038Ala) SNV Uncertain significance 811185 rs1584047508 7:91632344-91632344 7:92003030-92003030
15 AKAP9 NM_005751.4(AKAP9):c.5153C>A (p.Ser1718Tyr) SNV Uncertain significance 811703 rs1584285416 7:91672076-91672076 7:92042762-92042762
16 AKAP9 NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile) SNV Uncertain significance 931292 7:91690593-91690593 7:92061279-92061279
17 AKAP9 NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) SNV Uncertain significance 931764 7:91667761-91667761 7:92038447-92038447
18 AKAP9 NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=) SNV Likely benign 197505 rs56198613 7:91729054-91729054 7:92099740-92099740
19 AKAP9 NM_005751.4(AKAP9):c.10254G>C (p.Gln3418His) SNV Likely benign 190512 rs61757663 7:91726527-91726527 7:92097213-92097213
20 AKAP9 NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) SNV Likely benign 180263 rs151021935 7:91682040-91682040 7:92052726-92052726
21 AKAP9 NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) SNV Likely benign 191518 rs61757671 7:91694604-91694604 7:92065290-92065290
22 AKAP9 NM_005751.4(AKAP9):c.10197T>C (p.Thr3399=) SNV Likely benign 215511 rs143627839 7:91726470-91726470 7:92097156-92097156
23 AKAP9 NM_005751.4(AKAP9):c.6330+3A>G SNV Likely benign 810857 rs771419309 7:91695863-91695863 7:92066549-92066549
24 AKAP9 NM_005751.4(AKAP9):c.8468A>G (p.Gln2823Arg) SNV Likely benign 810858 rs376528503 7:91712791-91712791 7:92083477-92083477
25 AKAP9 NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) SNV Likely benign 190518 rs144888041 7:91622303-91622303 7:91992989-91992989
26 AKAP9 NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) SNV Likely benign 136332 rs150016098 7:91674405-91674405 7:92045091-92045091
27 AKAP9 NM_005751.4(AKAP9):c.5565A>G (p.Glu1855=) SNV Likely benign 522189 rs141094356 7:91682236-91682236 7:92052922-92052922
28 AKAP9 NM_005751.4(AKAP9):c.5978-4A>G SNV Likely benign 220501 rs147494754 7:91694541-91694541 7:92065227-92065227
29 AKAP9 NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro) SNV Likely benign 191520 rs76177450 7:91700267-91700267 7:92070953-92070953
30 AKAP9 NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) SNV Likely benign 191522 rs144875383 7:91712609-91712609 7:92083295-92083295
31 AKAP9 NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) SNV Likely benign 190510 rs140470576 7:91726391-91726391 7:92097077-92097077
32 AKAP9 NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) SNV Likely benign 190514 rs139046510 7:91727479-91727479 7:92098165-92098165
33 AKAP9 NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) SNV Benign/Likely benign 136346 rs142401936 7:91603056-91603056 7:91973742-91973742
34 AKAP9 NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) SNV Benign 191549 rs35669569 7:91603115-91603115 7:91973801-91973801
35 AKAP9 NM_005751.4(AKAP9):c.3246A>G (p.Ser1082=) SNV Benign 457097 rs760173622 7:91632477-91632477 7:92003163-92003163
36 AKAP9 NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) SNV Benign 136345 rs34327395 7:91729127-91729127 7:92099813-92099813
37 AKAP9 NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) SNV Benign 263541 rs149946443 7:91712808-91712808 7:92083494-92083494
38 AKAP9 NM_005751.4(AKAP9):c.5163-20G>A SNV Benign 136331 rs9785013 7:91674302-91674302 7:92044988-92044988
39 AKAP9 NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) SNV Benign 136347 rs6964587 7:91630620-91630620 7:92001306-92001306
40 AKAP9 NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) SNV Benign 136343 rs28927678 7:91715662-91715662 7:92086348-92086348
41 AKAP9 NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) SNV Benign 136340 rs6960867 7:91712698-91712698 7:92083384-92083384
42 AKAP9 NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) SNV Benign 136341 rs10228334 7:91713972-91713972 7:92084658-92084658
43 AKAP9 NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) SNV Benign 136333 rs10236397 7:91691601-91691601 7:92062287-92062287
44 AKAP9 NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) SNV Benign 136349 rs1989779 7:91632306-91632306 7:92002992-92002992
45 AKAP9 NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) SNV Benign 136344 rs1063243 7:91726927-91726927 7:92097613-92097613
46 AKAP9 NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) SNV Benign 136350 rs13245393 7:91641928-91641928 7:92012614-92012614
47 AKAP9 NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) SNV Benign 136342 rs1063242 7:91714911-91714911 7:92085597-92085597
48 AKAP9 NM_005751.4(AKAP9):c.6945+8C>T SNV Benign 136335 rs733957 7:91707197-91707197 7:92077883-92077883
49 AKAP9 NM_005751.4(AKAP9):c.6249C>T (p.Phe2083=) SNV Benign 215513 rs139770404 7:91695779-91695779 7:92066465-92066465

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 11:

73
# Symbol AA change Variation ID SNP ID
1 AKAP9 p.Ser1570Leu VAR_043489 rs121908566

Expression for Long Qt Syndrome 11

Search GEO for disease gene expression data for Long Qt Syndrome 11.

Pathways for Long Qt Syndrome 11

Pathways related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 KCNQ1 KCNJ5 KCNJ2 AKAP9
2
Show member pathways
12.59 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
3
Show member pathways
12.43 KCNQ1 KCNJ5 KCNJ2 CACNA1C
4
Show member pathways
12.21 SCN4B KCNQ1 KCNE1 CACNA1C
5
Show member pathways
12.16 KCNJ5 KCNJ2 CACNA1C
6
Show member pathways
12.12 KCNQ1 KCNJ2 KCNE2
7 12.06 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
8 11.88 SNTA1 SCN4B KCNQ1 CAV3
9
Show member pathways
11.78 KCNQ1 KCNJ5 KCNJ2
10
Show member pathways
11.31 SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C AKAP9
11 10.97 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
12 10.95 SCN4B ANK2
13 10.78 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 11

Cellular components related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.19 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
2 plasma membrane GO:0005886 10.07 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
3 lysosome GO:0005764 9.76 KCNQ1 KCNE2 KCNE1 ANK2
4 membrane raft GO:0045121 9.71 KCNQ1 KCNE1 CAV3 ANK2
5 postsynaptic membrane GO:0045211 9.65 SNTA1 CACNA1C ANK2
6 Z disc GO:0030018 9.62 KCNE1 CAV3 CACNA1C ANK2
7 sarcolemma GO:0042383 9.56 SNTA1 CAV3 CACNA1C ANK2
8 intercalated disc GO:0014704 9.46 SCN4B KCNJ2 CAV3 ANK2
9 dystrophin-associated glycoprotein complex GO:0016010 9.43 SNTA1 CAV3
10 T-tubule GO:0030315 9.35 KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
11 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 AKAP9

Biological processes related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.04 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
2 potassium ion transport GO:0006813 9.91 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
3 regulation of ion transmembrane transport GO:0034765 9.91 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.88 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
5 cellular response to cAMP GO:0071320 9.78 KCNQ1 KCNE1 AKAP9
6 potassium ion import across plasma membrane GO:1990573 9.77 KCNJ5 KCNJ2 KCNE2
7 regulation of heart rate GO:0002027 9.77 SNTA1 CAV3 ANK2
8 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNQ1 KCNJ5 KCNE2 KCNE1
9 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.75 KCNQ1 KCNE2 KCNE1
10 potassium ion export across plasma membrane GO:0097623 9.74 KCNQ1 KCNE2 KCNE1
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNQ1 KCNJ2 KCNE1
12 regulation of membrane repolarization GO:0060306 9.73 KCNQ1 KCNJ2 KCNE2 AKAP9
13 cardiac conduction GO:0061337 9.73 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C AKAP9
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 SCN4B KCNJ2 CACNA1C
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
16 membrane repolarization GO:0086009 9.71 KCNQ1 KCNE2 KCNE1
17 membrane repolarization during action potential GO:0086011 9.71 KCNQ1 KCNJ2 KCNE2 KCNE1
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNQ1 KCNJ2 KCNE1
19 cardiac muscle contraction GO:0060048 9.68 SCN4B KCNQ1
20 regulation of heart contraction GO:0008016 9.67 KCNQ1 CAV3
21 regulation of calcium ion transport GO:0051924 9.67 CAV3 ANK2
22 positive regulation of microtubule polymerization GO:0031116 9.67 CAV3 AKAP9
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.66 CACNA1C ANK2
24 regulation of cardiac muscle contraction GO:0055117 9.66 CAV3 ANK2
25 regulation of sodium ion transmembrane transporter activity GO:2000649 9.65 SCN4B CAV3
26 regulation of potassium ion transmembrane transport GO:1901379 9.65 KCNE2 KCNE1
27 regulation of cardiac muscle cell contraction GO:0086004 9.65 KCNJ2 ANK2
28 atrial cardiac muscle cell action potential GO:0086014 9.64 KCNQ1 ANK2
29 T-tubule organization GO:0033292 9.64 CAV3 ANK2
30 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.63 CAV3 AKAP9
31 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE2 KCNE1
32 ventricular cardiac muscle cell action potential GO:0086005 9.63 SNTA1 KCNQ1 KCNE2 KCNE1 CAV3 ANK2
33 negative regulation of voltage-gated potassium channel activity GO:1903817 9.62 KCNQ1 KCNE2
34 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.62 ANK2 AKAP9
35 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.61 KCNQ1 KCNJ5
36 regulation of calcium ion transmembrane transporter activity GO:1901019 9.58 CAV3 ANK2
37 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.56 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
38 regulation of heart rate by cardiac conduction GO:0086091 9.28 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1

Molecular functions related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.71 SNTA1 KCNQ1 CACNA1C
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 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNE2 KCNE1
7 protein kinase A regulatory subunit binding GO:0034237 9.52 KCNQ1 AKAP9
8 nitric-oxide synthase binding GO:0050998 9.51 SNTA1 CAV3
9 inward rectifier potassium channel activity GO:0005242 9.5 KCNJ5 KCNJ2 KCNE2
10 voltage-gated ion channel activity GO:0005244 9.5 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.46 KCNQ1 KCNJ5
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNJ5 KCNE2 KCNE1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNQ1 KCNJ2 KCNE1
14 ion channel binding GO:0044325 9.23 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3

Sources for Long Qt Syndrome 11

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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