LQT4
MCID: CRD054
MIFTS: 47

Cardiac Arrhythmia, Ankyrin-B-Related (LQT4)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Arrhythmia, Ankyrin-B-Related

MalaCards integrated aliases for Cardiac Arrhythmia, Ankyrin-B-Related:

Name: Cardiac Arrhythmia, Ankyrin-B-Related 56 52 25 13 71
Long Qt Syndrome 4 56 12 52 73 29 6 15 71
Ankyrin-B Syndrome 56 12 52 25
Cardiac Arrhythmia, Ankyrin B-Related 29 6 39
Lqt4 12 52 73
Ankyrin-B-Related Cardiac Arrhythmia 12 15
Sick Sinus Syndrome with Bradycardia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see lqt1 )


HPO:

31
cardiac arrhythmia, ankyrin-b-related:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0111700 DOID:0111701
OMIM 56 600919
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
UMLS 71 C1833154 C1970119

Summaries for Cardiac Arrhythmia, Ankyrin-B-Related

Genetics Home Reference : 25 Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals. Individuals with ankyrin-B syndrome may have problems with the sinoatrial (SA) node, which generates the electrical impulses that start each heartbeat. If the SA node is not functioning properly, the heartbeat can be too slow (bradycardia). In a small number of people with ankyrin-B syndrome, the heart takes longer than usual to recharge between beats, which is known as a prolonged QT interval (long QT). Some affected individuals have impaired progression (conduction) of electrical impulses between the chambers of the heart, which can cause a problem called heart block. Other heart problems that occur in ankyrin-B syndrome include irregular and uncoordinated electrical activity in the heart's upper chambers (atrial fibrillation) or lower chambers (ventricular fibrillation) and an abnormality called catecholaminergic polymorphic ventricular tachycardia (CPVT), in which an increase in the heart rate can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. In people with ankyrin-B syndrome, arrhythmia can lead to fainting (syncope) or cardiac arrest and sudden death. When associated with a prolonged QT interval, the condition is sometimes classified as long QT syndrome 4. However, because additional heart problems can result from changes in the same gene, long QT syndrome 4 is usually considered part of ankyrin-B syndrome.

MalaCards based summary : Cardiac Arrhythmia, Ankyrin-B-Related, also known as long qt syndrome 4, is related to sick sinus syndrome and syncope, and has symptoms including syncope An important gene associated with Cardiac Arrhythmia, Ankyrin-B-Related is ANK2 (Ankyrin 2), and among its related pathways/superpathways are Developmental Biology and Transmission across Chemical Synapses. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and sudden cardiac death

Disease Ontology : 12 A long QT syndrome that has material basis in heterozygous mutation in ANK2 on chromosome 4q25-q26.

OMIM : 56 Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia (Mohler et al., 2007). (600919)

UniProtKB/Swiss-Prot : 73 Long QT syndrome 4: 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. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature.

Related Diseases for Cardiac Arrhythmia, Ankyrin-B-Related

Diseases related to Cardiac Arrhythmia, Ankyrin-B-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 29.9 SNTA1 SCN5A KCNQ1 KCNJ2 CACNA1C ANK2
2 syncope 29.4 SCN5A RYR2 KCNQ1 KCNH2
3 sinoatrial node disease 28.8 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
4 cardiac arrhythmia 28.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
5 atrial fibrillation 26.9 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
6 long qt syndrome 25.8 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
7 myopathy 10.3
8 first-degree atrioventricular block 10.2 SCN5A KCNJ2
9 familial periodic paralysis 10.2 SCN5A KCNJ2 CACNA1C
10 brugada syndrome 3 10.2 KCNE2 CACNA1C ANK2
11 long qt syndrome 15 10.1 KCNJ2 KCNE1 CACNA1C
12 chromosome 2q35 duplication syndrome 10.1 KCNQ1 KCNJ2 CACNA1C
13 cardiomyopathy, dilated, 3b 10.1 SNTA1 CAV3
14 second-degree atrioventricular block 10.1 SCN5A PPP2R5A
15 ventricular tachycardia, catecholaminergic polymorphic, 3 10.1 RYR2 KCNJ2
16 deafness, autosomal recessive 98 10.0 KCNQ1 KCNE2 KCNE1
17 third-degree atrioventricular block 10.0 SCN5A KCNJ2 KCNH2
18 epileptic encephalopathy, early infantile, 14 10.0 SCN5A KCNQ1 KCNH2
19 familial short qt syndrome 10.0 KCNQ1 KCNJ2 KCNH2
20 progressive familial heart block 10.0 SCN5A KCNQ1 KCNH2
21 right bundle branch block 10.0 SCN5A KCNH2 CACNA1C
22 anhidrosis, isolated, with normal sweat glands 10.0 RYR2 CACNA1C
23 hypokalemic periodic paralysis, type 1 10.0 SCN5A KCNJ2 KCNE1 CACNA1C
24 progressive familial heart block, type ia 9.9 SCN5A ANK3 ANK2
25 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2
26 spinocerebellar ataxia 5 9.8 ANK3 ANK2
27 left bundle branch hemiblock 9.8 SCN5A RYR2
28 arrhythmogenic right ventricular dysplasia, familial, 12 9.8 RYR2 KCNH2
29 atrial standstill 1 9.8 SCN5A RYR2 CAV3
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
31 generalized epilepsy with febrile seizures plus 9.8 SCN5A SCN4B ANK3
32 isolated elevated serum creatine phosphokinase levels 9.7 SCN5A RYR2 CAV3 CACNA1C
33 brugada syndrome 4 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
34 neuromuscular junction disease 9.7 SCN5A RYR2 KCNH2 CACNA1C
35 early infantile epileptic encephalopathy 9.6 SCN5A SCN4B KCNQ1 ANK3
36 brugada syndrome 1 9.6 SCN5A RYR2 KCNH2 AKAP9
37 hypokalemia 9.5 KCNQ1 KCNJ5 KCNH2
38 cardiac conduction defect 9.5 SCN5A RYR2 KCNQ1 KCNH2 ANK2
39 neuromuscular disease 9.5 SCN5A RYR2 KCNH2 CAV3
40 noonan syndrome with multiple lentigines 9.5 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
41 long qt syndrome 14 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
42 congestive heart failure 9.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNE2 CACNA1C
43 malignant hyperthermia 9.4 SCN5A RYR2 KCNH2 CAV3 CACNA1C
44 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
45 familial long qt syndrome 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
46 cardiac arrest 9.2 SCN5A RYR2 KCNQ1 KCNH2 ANK2 AKAP9
47 lipoprotein quantitative trait locus 9.2 SCN5A RYR2 KCNJ5 KCNH2
48 atrioventricular block 9.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
49 arrhythmogenic right ventricular cardiomyopathy 9.0 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
50 sudden infant death syndrome 9.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2

Graphical network of the top 20 diseases related to Cardiac Arrhythmia, Ankyrin-B-Related:



Diseases related to Cardiac Arrhythmia, Ankyrin-B-Related

Symptoms & Phenotypes for Cardiac Arrhythmia, Ankyrin-B-Related

Human phenotypes related to Cardiac Arrhythmia, Ankyrin-B-Related:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 sudden cardiac death 31 HP:0001645
3 syncope 31 HP:0001279
4 atrial fibrillation 31 HP:0005110
5 sinus bradycardia 31 HP:0001688

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden cardiac death
syncope
atrial fibrillation
sinus bradycardia
prolong qt interval on ekg
more

Clinical features from OMIM:

600919

UMLS symptoms related to Cardiac Arrhythmia, Ankyrin-B-Related:


syncope

MGI Mouse Phenotypes related to Cardiac Arrhythmia, Ankyrin-B-Related:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 RYR2

Drugs & Therapeutics for Cardiac Arrhythmia, Ankyrin-B-Related

Search Clinical Trials , NIH Clinical Center for Cardiac Arrhythmia, Ankyrin-B-Related

Genetic Tests for Cardiac Arrhythmia, Ankyrin-B-Related

Genetic tests related to Cardiac Arrhythmia, Ankyrin-B-Related:

# Genetic test Affiliating Genes
1 Cardiac Arrhythmia, Ankyrin B-Related 29 ANK2
2 Long Qt Syndrome 4 29

Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

MalaCards organs/tissues related to Cardiac Arrhythmia, Ankyrin-B-Related:

40
Heart

Publications for Cardiac Arrhythmia, Ankyrin-B-Related

Articles related to Cardiac Arrhythmia, Ankyrin-B-Related:

(show all 15)
# Title Authors PMID Year
1
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 56 6
15178757 2004
2
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 56 6
12571597 2003
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
4
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. 56
17242276 2007
5
Long QT Syndrome 6
20301308 2003
6
Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation? 6
11334825 2001
7
Mapping of a gene for long QT syndrome to chromosome 4q25-27. 56
7485162 1995
8
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. 61
31520628 2020
9
ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier. 61
30929919 2019
10
Coordinating electrical activity of the heart: ankyrin polypeptides in human cardiac disease. 61
21457127 2011
11
Video-assisted thoracoscopic cardiac denervation: a potential novel therapeutic option for children with intractable ventricular arrhythmias. 61
19049760 2008
12
Inherited long QT syndrome: phenotype and therapy to use and avoid. 61
17063944 2006
13
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. 61
15998675 2005
14
[Heart rate turbulence in patients with ventricular tachy arrhythmias of noncoronary genesis]. 61
15940187 2005
15
Major quantitative trait locus for resting heart rate maps to a region on chromosome 4. 61
14993199 2004

Variations for Cardiac Arrhythmia, Ankyrin-B-Related

ClinVar genetic disease variations for Cardiac Arrhythmia, Ankyrin-B-Related:

6 (show top 50) (show all 260) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANK2 NM_001148.6(ANK2):c.1905T>C (p.Ile635=)SNV Conflicting interpretations of pathogenicity 413968 rs1060504154 4:114203854-114203854 4:113282698-113282698
2 ANK2 NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)SNV Conflicting interpretations of pathogenicity 406489 rs141212932 4:114275344-114275344 4:113354188-113354188
3 ANK2 NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)SNV Conflicting interpretations of pathogenicity 413950 rs72556369 4:114267094-114267094 4:113345938-113345938
4 ANK2 NM_001148.6(ANK2):c.231G>A (p.Val77=)SNV Conflicting interpretations of pathogenicity 413949 rs149699185 4:114117568-114117568 4:113196412-113196412
5 ANK2 NM_001148.6(ANK2):c.2868C>T (p.Asn956=)SNV Conflicting interpretations of pathogenicity 457031 rs145960256 4:114239744-114239744 4:113318588-113318588
6 ANK2 NM_001148.6(ANK2):c.1287+10T>CSNV Conflicting interpretations of pathogenicity 517834 rs751370687 4:114179314-114179314 4:113258158-113258158
7 ANK2 NM_001148.6(ANK2):c.7266C>T (p.Ser2422=)SNV Conflicting interpretations of pathogenicity 516922 rs150349588 4:114277040-114277040 4:113355884-113355884
8 ANK2 NM_001148.6(ANK2):c.6642G>A (p.Pro2214=)SNV Conflicting interpretations of pathogenicity 517684 rs775073103 4:114276416-114276416 4:113355260-113355260
9 ANK2 NM_001148.6(ANK2):c.813T>C (p.His271=)SNV Conflicting interpretations of pathogenicity 519081 rs774848857 4:114163287-114163287 4:113242131-113242131
10 ANK2 NM_001148.6(ANK2):c.6744T>C (p.Ser2248=)SNV Conflicting interpretations of pathogenicity 518627 rs529758377 4:114276518-114276518 4:113355362-113355362
11 ANK2 NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)SNV Conflicting interpretations of pathogenicity 519510 rs371358639 4:114279892-114279892 4:113358736-113358736
12 ANK2 NM_001148.6(ANK2):c.921A>G (p.Ala307=)SNV Conflicting interpretations of pathogenicity 695895 4:114170949-114170949 4:113249793-113249793
13 ANK2 NM_001148.6(ANK2):c.7728C>T (p.Asn2576=)SNV Conflicting interpretations of pathogenicity 698421 4:114277502-114277502 4:113356346-113356346
14 ANK2 NM_001148.6(ANK2):c.8916A>G (p.Val2972=)SNV Conflicting interpretations of pathogenicity 701581 4:114278690-114278690 4:113357534-113357534
15 ANK2 NM_001148.6(ANK2):c.9822C>T (p.Pro3274=)SNV Conflicting interpretations of pathogenicity 698489 4:114279596-114279596 4:113358440-113358440
16 ANK2 NM_001148.6(ANK2):c.385-6C>TSNV Conflicting interpretations of pathogenicity 720583 4:114153311-114153311 4:113232155-113232155
17 ANK2 NM_001148.6(ANK2):c.1020C>T (p.Ala340=)SNV Conflicting interpretations of pathogenicity 809656 4:114176920-114176920 4:113255764-113255764
18 ANK2 NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)SNV Conflicting interpretations of pathogenicity 18056 rs72544141 4:114269433-114269433 4:113348277-113348277
19 ANK2 NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)SNV Conflicting interpretations of pathogenicity 18057 rs121912705 4:114288920-114288920 4:113367764-113367764
20 ANK2 NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)SNV Conflicting interpretations of pathogenicity 18059 rs121912706 4:114294462-114294462 4:113373306-113373306
21 ANK2 NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg)SNV Conflicting interpretations of pathogenicity 67596 rs199473346 4:114284595-114284595 4:113363439-113363439
22 ANK2 NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)SNV Conflicting interpretations of pathogenicity 67599 rs66785829 4:114286207-114286207 4:113365051-113365051
23 ANK2 NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)SNV Conflicting interpretations of pathogenicity 67606 rs34591340 4:114267122-114267122 4:113345966-113345966
24 ANK2 NM_001148.6(ANK2):c.-39G>TSNV Conflicting interpretations of pathogenicity 136380 rs372870729 4:113970846-113970846 4:113049690-113049690
25 ANK2 NM_001148.6(ANK2):c.1899A>G (p.Leu633=)SNV Conflicting interpretations of pathogenicity 136384 rs377608305 4:114203848-114203848 4:113282692-113282692
26 ANK2 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)SNV Conflicting interpretations of pathogenicity 188143 rs141191319 4:114276906-114276906 4:113355750-113355750
27 ANK2 NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)SNV Conflicting interpretations of pathogenicity 190540 rs150226540 4:114170990-114170990 4:113249834-113249834
28 ANK2 NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)SNV Conflicting interpretations of pathogenicity 190594 rs29372 4:114204009-114204009 4:113282853-113282853
29 ANK2 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)SNV Conflicting interpretations of pathogenicity 190577 rs199549660 4:114288808-114288808 4:113367652-113367652
30 ANK2 NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)SNV Conflicting interpretations of pathogenicity 190582 rs747961230 4:114290821-114290821 4:113369665-113369665
31 ANK2 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)SNV Conflicting interpretations of pathogenicity 191538 rs144848998 4:114276002-114276002 4:113354846-113354846
32 ANK2 NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)SNV Conflicting interpretations of pathogenicity 191413 rs528909081 4:114278155-114278155 4:113356999-113356999
33 ANK2 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)SNV Conflicting interpretations of pathogenicity 191541 rs149963885 4:114278820-114278820 4:113357664-113357664
34 ANK2 NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)SNV Conflicting interpretations of pathogenicity 197480 rs45602336 4:114290889-114290889 4:113369733-113369733
35 ANK2 NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)SNV Conflicting interpretations of pathogenicity 222497 rs148405740 4:114284618-114284618 4:113363462-113363462
36 ANK2 NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)SNV Conflicting interpretations of pathogenicity 234981 rs138928206 4:114279300-114279300 4:113358144-113358144
37 ANK2 NM_001148.6(ANK2):c.2622A>G (p.Ser874=)SNV Conflicting interpretations of pathogenicity 238574 rs764486532 4:114232484-114232484 4:113311328-113311328
38 ANK2 NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)SNV Conflicting interpretations of pathogenicity 238593 rs374884110 4:114278447-114278447 4:113357291-113357291
39 ANK2 NM_001148.6(ANK2):c.9279C>G (p.Thr3093=)SNV Conflicting interpretations of pathogenicity 238594 rs148851013 4:114279053-114279053 4:113357897-113357897
40 ANK2 NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)SNV Conflicting interpretations of pathogenicity 238586 rs190680846 4:114276686-114276686 4:113355530-113355530
41 ANK2 NM_001148.6(ANK2):c.997C>T (p.Leu333=)SNV Conflicting interpretations of pathogenicity 264488 rs201024064 4:114176897-114176897 4:113255741-113255741
42 ANK2 NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)SNV Conflicting interpretations of pathogenicity 263709 rs149678604 4:114274230-114274230 4:113353074-113353074
43 ANK2 NM_001148.6(ANK2):c.670-10A>GSNV Conflicting interpretations of pathogenicity 347305 rs374372032 4:114158745-114158745 4:113237589-113237589
44 ANK2 NM_001148.6(ANK2):c.8814T>A (p.Ser2938=)SNV Conflicting interpretations of pathogenicity 347338 rs759775013 4:114278588-114278588 4:113357432-113357432
45 ANK2 NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val)SNV Conflicting interpretations of pathogenicity 347347 rs773893598 4:114288989-114288989 4:113367833-113367833
46 ANK2 NM_001148.6(ANK2):c.198C>T (p.Asn66=)SNV Conflicting interpretations of pathogenicity 347302 rs146964054 4:114117535-114117535 4:113196379-113196379
47 ANK2 NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)SNV Conflicting interpretations of pathogenicity 347330 rs199591964 4:114277299-114277299 4:113356143-113356143
48 ANK2 NM_001148.6(ANK2):c.8286A>G (p.Leu2762=)SNV Conflicting interpretations of pathogenicity 347334 rs751252941 4:114278060-114278060 4:113356904-113356904
49 ANK2 NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)SNV Conflicting interpretations of pathogenicity 347344 rs148462839 4:114280305-114280305 4:113359149-113359149
50 ANK2 NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)SNV Conflicting interpretations of pathogenicity 379553 rs138438183 4:114278617-114278617 4:113357461-113357461

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Arrhythmia, Ankyrin-B-Related:

73
# Symbol AA change Variation ID SNP ID
1 ANK2 p.Leu3740Ile VAR_022935 rs35530544
2 ANK2 p.Thr3744Asn VAR_022936 rs121912705
3 ANK2 p.Arg3906Trp VAR_022937 rs121912706
4 ANK2 p.Glu3931Lys VAR_022938 rs45454496

Expression for Cardiac Arrhythmia, Ankyrin-B-Related

Search GEO for disease gene expression data for Cardiac Arrhythmia, Ankyrin-B-Related.

Pathways for Cardiac Arrhythmia, Ankyrin-B-Related

Pathways related to Cardiac Arrhythmia, Ankyrin-B-Related according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 SCN5A SCN4B PPP2R5A CACNA1C ANK3 ANK2
2
Show member pathways
12.79 KCNQ1 KCNJ5 KCNJ2 KCNH2 AKAP9
3
Show member pathways
12.61 RYR2 PPP2R5A KCNQ1 KCNJ5 KCNJ2 CACNA1C
4
Show member pathways
12.42 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
5
Show member pathways
12.41 SCN5A SCN4B RYR2 PPP2R5A KCNQ1 KCNE1
6
Show member pathways
12.27 RYR2 KCNJ5 KCNJ2 CACNA1C
7 12.17 PPP2R5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
8 12.08 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
9
Show member pathways
11.97 KCNQ1 KCNJ5 KCNJ2 KCNH2
10
Show member pathways
11.95 KCNQ1 KCNJ2 KCNE2
11
Show member pathways
11.88 SCN5A SCN4B ANK3 ANK2
12
Show member pathways
11.68 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C
13 11.18 SCN5A SCN4B ANK3 ANK2
14 11.11 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
15 10.89 KCNQ1 KCNJ2 KCNE1

GO Terms for Cardiac Arrhythmia, Ankyrin-B-Related

Cellular components related to Cardiac Arrhythmia, Ankyrin-B-Related according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 SNTA1 SCN5A SCN4B RYR2 PPP2R5A KCNQ1
2 plasma membrane GO:0005886 10.21 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
3 cell GO:0005623 10 RYR2 KCNJ2 CAV3 CACNA1C ANK3 ANK2
4 cell surface GO:0009986 9.91 SCN5A KCNH2 KCNE2 KCNE1 CAV3 ANK3
5 lysosome GO:0005764 9.85 KCNQ1 KCNE2 KCNE1 ANK3 ANK2
6 membrane raft GO:0045121 9.8 KCNQ1 KCNE1 CAV3 ANK2
7 intercalated disc GO:0014704 9.8 SCN5A SCN4B KCNJ2 CAV3 ANK3 ANK2
8 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK3
9 voltage-gated potassium channel complex GO:0008076 9.7 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
10 neuromuscular junction GO:0031594 9.69 SNTA1 CAV3 ANK3
11 lateral plasma membrane GO:0016328 9.65 SNTA1 SCN5A ANK3
12 smooth endoplasmic reticulum GO:0005790 9.58 RYR2 KCNJ2
13 M band GO:0031430 9.58 PPP2R5A ANK2
14 axon initial segment GO:0043194 9.57 ANK3 ANK2
15 costamere GO:0043034 9.56 ANK3 ANK2
16 Z disc GO:0030018 9.56 SCN5A RYR2 PPP2R5A KCNE1 CAV3 CACNA1C
17 dystrophin-associated glycoprotein complex GO:0016010 9.55 SNTA1 CAV3
18 voltage-gated sodium channel complex GO:0001518 9.54 SCN5A SCN4B
19 T-tubule GO:0030315 9.17 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1C ANK3

Biological processes related to Cardiac Arrhythmia, Ankyrin-B-Related according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.18 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
2 transmembrane transport GO:0055085 10.11 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 10.05 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.99 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
6 cardiac muscle contraction GO:0060048 9.93 SCN5A SCN4B RYR2 KCNQ1 KCNH2
7 protein localization to plasma membrane GO:0072659 9.9 CAV3 ANK3 ANK2
8 regulation of heart rate GO:0002027 9.89 SNTA1 SCN5A RYR2 CAV3 ANK2
9 potassium ion import across plasma membrane GO:1990573 9.88 KCNJ5 KCNJ2 KCNH2 KCNE2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
11 cellular response to drug GO:0035690 9.86 KCNQ1 KCNH2 KCNE2
12 potassium ion export across plasma membrane GO:0097623 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
13 cardiac conduction GO:0061337 9.86 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
14 cellular response to cAMP GO:0071320 9.85 KCNQ1 KCNE1 AKAP9
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 SCN5A SCN4B KCNJ2 CACNA1C
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
18 membrane repolarization GO:0086009 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
19 regulation of membrane repolarization GO:0060306 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
20 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.81 RYR2 CACNA1C ANK2
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNQ1 KCNJ2 KCNH2 KCNE1
22 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
23 regulation of cardiac muscle contraction GO:0055117 9.8 RYR2 CAV3 ANK2
24 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
25 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
26 positive regulation of sodium ion transport GO:0010765 9.79 SCN5A SCN4B ANK3
27 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.79 KCNE2 KCNE1 ANK3
28 regulation of cardiac muscle cell contraction GO:0086004 9.78 SCN5A KCNJ2 ANK2
29 atrial cardiac muscle cell action potential GO:0086014 9.77 SCN5A KCNQ1 ANK2
30 positive regulation of microtubule polymerization GO:0031116 9.73 CAV3 AKAP9
31 plasma membrane organization GO:0007009 9.73 CAV3 ANK3
32 positive regulation of heart rate GO:0010460 9.72 RYR2 KCNQ1
33 regulation of sodium ion transmembrane transporter activity GO:2000649 9.72 SCN4B CAV3
34 membrane depolarization during action potential GO:0086010 9.72 SCN5A KCNH2
35 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
36 calcium ion transport into cytosol GO:0060402 9.71 RYR2 CACNA1C
37 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
38 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
39 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.71 RYR2 CACNA1C
40 T-tubule organization GO:0033292 9.7 CAV3 ANK2
41 positive regulation of cation channel activity GO:2001259 9.7 ANK3 ANK2
42 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
43 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.7 CAV3 AKAP9
44 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.69 SCN5A CAV3
45 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.69 RYR2 ANK2
46 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
47 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.68 ANK2 AKAP9
48 SA node cell action potential GO:0086015 9.68 SCN5A ANK2
49 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.68 SCN5A KCNQ1
50 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNQ1 KCNJ5

Molecular functions related to Cardiac Arrhythmia, Ankyrin-B-Related according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.89 SCN5A RYR2 CAV3 ANK2
2 calmodulin binding GO:0005516 9.88 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
3 ion channel activity GO:0005216 9.83 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
4 potassium channel activity GO:0005267 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 9.74 SCN5A KCNQ1 KCNH2
6 potassium channel regulator activity GO:0015459 9.71 KCNE2 KCNE1 AKAP9
7 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
8 sodium channel regulator activity GO:0017080 9.7 SNTA1 SCN4B CAV3
9 protein kinase A regulatory subunit binding GO:0034237 9.69 RYR2 KCNQ1 AKAP9
10 delayed rectifier potassium channel activity GO:0005251 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
11 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A CAV3
12 inward rectifier potassium channel activity GO:0005242 9.62 KCNJ5 KCNJ2 KCNH2 KCNE2
13 spectrin binding GO:0030507 9.61 ANK3 ANK2
14 voltage-gated ion channel activity GO:0005244 9.61 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
15 voltage-gated sodium channel activity GO:0005248 9.6 SCN5A SCN4B
16 cytoskeletal adaptor activity GO:0008093 9.58 ANK3 ANK2
17 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.56 SCN5A SCN4B
19 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
20 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.55 KCNQ1 KCNJ5
21 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
22 ion channel binding GO:0044325 9.36 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2

Sources for Cardiac Arrhythmia, Ankyrin-B-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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