MCID: FML001
MIFTS: 62

Familial Atrial Fibrillation malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Familial Atrial Fibrillation

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8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.

MalaCards: Familial Atrial Fibrillation, also known as atrial fibrillation familial, is related to long qt syndrome and kcne2-related familial atrial fibrillation. An important gene associated with Familial Atrial Fibrillation is KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1), and among its related pathways are Salivary secretion and Potassium transporters inward current. The drugs atenolol and deslanoside and the compounds chromanol and indapamide have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are respiratory system and digestive/alimentary.

Disease Ontology:8 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has material basis in autosomal dominant inheritance of the familial atrial fibrillation (atfb) genes.

Wikipedia:65 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Description from OMIM:47 607554,612201,612240,611493

Aliases & Classifications for Familial Atrial Fibrillation

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 20GeneTests, 22GTR, 45Novoseek, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

familial atrial fibrillation 8 43 21 10
atrial fibrillation familial 43 20 22
autosomal dominant atrial fibrillation 43
atrial fibrillation autosomal dominant 43
atrial fibrillation, familial 45
auricular fibrillation 21


External Ids:

Disease Ontology8 DOID:0050650

Related Diseases for Familial Atrial Fibrillation

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17GeneCards, 18GeneDecks
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Diseases in the Familial Atrial Fibrillation family:

Kcne2-Related Familial Atrial Fibrillation Kcnq1-Related Familial Atrial Fibrillation
Kcna5-Related Familial Atrial Fibrillation Kcnj2-Related Familial Atrial Fibrillation
Abcc9-Related Familial Atrial Fibrillation Gja5-Related Familial Atrial Fibrillation
Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 5
Atrial Fibrillation 15 Atrial Fibrillation, Familial, 2
Atrial Fibrillation, Familial, 1 Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 14 Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 12 Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 9 Atrial Fibrillation, Familial, 13
Atrial Fibrillation, Familial, 4

Diseases related to Familial Atrial Fibrillation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.2KCNH2, KCNA5, KCNJ2, KCNE1, KCNE3, KCNE2
2kcne2-related familial atrial fibrillation10.3
3kcnq1-related familial atrial fibrillation10.3
4kcna5-related familial atrial fibrillation10.3
5kcnj2-related familial atrial fibrillation10.3
6abcc9-related familial atrial fibrillation10.3
7gja5-related familial atrial fibrillation10.3
8atrial fibrillation, familial, 610.3
9atrial fibrillation, familial, 1010.3
10atrial fibrillation, familial, 510.3
11atrial fibrillation, familial, 210.3
12atrial fibrillation, familial, 110.3
13atrial fibrillation, familial, 310.3
14atrial fibrillation, familial, 710.3
15atrial fibrillation, familial, 810.3
16atrial fibrillation, familial, 410.3
17wolff-parkinson-white syndrome10.2
18right bundle branch block10.2
19atrial fibrillation, familial, 1110.2
20atrial fibrillation, familial, 1410.2
21atrial fibrillation, familial, 1210.2
22atrial fibrillation, familial, 910.2
23atrial fibrillation, familial, 1310.2
24short qt syndrome 210.1KCNQ1
25dextrocardia10.1
26endocardial fibroelastosis10.1
27mesenteric vascular occlusion10.1
28aortic disease10.1
29mediastinal malignant lymphoma10.1
30mediastinitis10.1
31tetrology of fallot10.1NKX2-5
32brugada syndrome 110.1SCN5A
33jervell-lange nielsen syndrome10.1KCNQ1, KCNE1
34atrial standstill, digenic10.1GJA5, SCN5A
35hyperkalemic periodic paralysis10.1KCNE3, KCNJ2
36sensorineural hearing loss10.1KCNQ1, KCNE1
37atrioventricular septal defect10.0GATA4, NKX2-5
38endodermal sinus tumor10.0GATA4, GATA6
39ventricular septal defect10.0NKX2-5
40heart septal defect10.0NKX2-5, GATA4
41atrial heart septal defect10.0NKX2-5, GATA4
42sick sinus syndrome10.0SCN5A, NPPA
43sudden infant death syndrome10.0KCNH2, KCNQ1, SCN5A
44hypokalemic periodic paralysis10.0KCNE3, KCNJ2
45tetralogy of fallot10.0GATA4, GATA6, NKX2-5
46timothy syndrome10.0SCN4B, KCNE1
47congenital heart disease10.0NKX2-5, GATA4, NPPA
48dilated cardiomyopathy10.0SCN5A, LMNA, NPPA
49long qt syndrome 110.0KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
50congenital heart block9.9KCNE2, KCNQ1, SCN4B, SCN5A, LMNA

Graphical network of the top 20 diseases related to Familial Atrial Fibrillation:



Diseases related to familial atrial fibrillation

Symptoms for Familial Atrial Fibrillation

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47OMIM
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Clinical features from OMIM:

607554,612201,612240,611493

Drugs & Therapeutics for Familial Atrial Fibrillation

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Familial Atrial Fibrillation

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20GeneTests, 22GTR
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Genetic tests related to Familial Atrial Fibrillation:

id Genetic test Affiliating Genes
1 Familial Atrial Fibrillation20 KCNQ1
2 Atrial Fibrillation Familial22

Anatomical Context for Familial Atrial Fibrillation

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33MalaCards
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MalaCards organs/tissues related to Familial Atrial Fibrillation:

33
Heart

Animal Models for Familial Atrial Fibrillation or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4KCNJ2, KCNE3, LMNA, NKX2-5, GJA5, GATA6
2MP:00053818.3KCNJ2, KCNE1, KCNE3, KCNE2, KCNQ1, LMNA
3MP:00028738.2KCNQ1, SCN5A, LMNA, NKX2-5, GJA5, GATA6
4MP:00053977.8KCNA5, KCNE1, KCNE2, LMNA, NKX2-5, GJA5
5MP:00107687.6KCNJ2, SCN5A, LMNA, NKX2-5, GJA5, GATA5
6MP:00036317.5KCNA5, KCNE1, KCNQ1, SCN5A, LMNA, PRKAR1B
7MP:00053697.1NPPA, KCNH2, KCNA5, KCNJ2, KCNQ1, SCN5A
8MP:00053856.8KCNQ1, KCNE1, KCNJ2, KCNA5, KCNH2, SCN5A
9MP:00053766.6KCNE2, KCNE3, KCNE1, KCNJ2, KCNA5, KCNH2

Publications for Familial Atrial Fibrillation

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52PubMed
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Articles related to Familial Atrial Fibrillation:

(show all 37)
idTitleAuthorsYear
1
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. (24333117)
2014
2
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. (23611745)
2013
3
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. (23604097)
2013
4
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. (23255276)
2013
5
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. (23525379)
2013
6
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. (23551519)
2013
7
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. (24411289)
2013
8
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. (23350853)
2013
9
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. (22818067)
2012
10
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. (23295592)
2012
11
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. (22257684)
2012
12
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. (22471742)
2012
13
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. (22483626)
2012
14
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. (22824924)
2012
15
GATA4 loss-of-function mutations in familial atrial fibrillation. (21708142)
2011
16
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. (20850564)
2011
17
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. (21076174)
2010
18
Connexin40 nonsense mutation in familial atrial fibrillation. (20818502)
2010
19
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (19646991)
2010
20
Novel connexin40 missense mutations in patients with familial atrial fibrillation. (20650941)
2010
21
Laminopathy presenting as familial atrial fibrillation. (20472316)
2010
22
Genetics of familial atrial fibrillation. (19666641)
2009
23
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. (18929331)
2008
24
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. (18379660)
2008
25
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (18614783)
2008
26
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. (18929244)
2008
27
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. (18342226)
2008
28
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. (17399636)
2007
29
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. (15922306)
2005
30
KCNE3 R53H substitution in familial atrial fibrillation]. (16313760)
2005
31
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (15368194)
2004
32
Familial atrial fibrillation is a genetically heterogeneous disorder. (12821245)
2003
33
KCNQ1 gain-of-function mutation in familial atrial fibrillation. (12522251)
2003
34
Familial atrial fibrillation with fetal onset. (9538316)
1998
35
Familial atrial fibrillation. (9235505)
1997
36
Clinical study of 9 familial atrial fibrillation cases. (6414778)
1983
37
FAMILIAL ATRIAL FIBRILLATION. (14098892)
1963

Variations for Familial Atrial Fibrillation

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Expression for genes affiliated with Familial Atrial Fibrillation

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Atrial Fibrillation

Search GEO for disease gene expression data for Familial Atrial Fibrillation.

Pathways for genes affiliated with Familial Atrial Fibrillation

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50PathCards, 30KEGG, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 51PharmGKB
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Pathways related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9KCNJ2, KCNE2, KCNQ1
29.6KCNH2, KCNJ2, KCNE1
3
Show member pathways
9.5KCNH2, KCNA5, KCNJ2, KCNQ1
49.4NKX2-5, GATA6, GATA4
59.3GATA4, NKX2-5, SCN5A
6
Show member pathways
9.3NPPA, GATA4, NKX2-5
79.3NPPA, GATA4, NKX2-5
89.3NPPA, GATA4, NKX2-5
99.2KCNE1, KCNQ1, SCN4B, SCN5A
10
Show member pathways
9.1PRKAR1B, GATA5, GATA6, GATA4
119.1PRKAR1B, GATA5, GATA6, GATA4
12
Show member pathways
9.1GATA4, GATA6, GATA5, PRKAR1B
13
Show member pathways
8.9KCNH2, KCNA5, KCNJ2, KCNE1, KCNE3, KCNQ1
148.6KCNH2, KCNQ1, SCN4B, SCN5A, PRKAR1B
15
Show member pathways
8.2LMNA, PRKAR1B, NKX2-5, GATA5, GATA6, GATA4
168.2KCNH2, KCNA5, KCNJ2, KCNE1, KCNE3, KCNE2
177.1GJA5, KCNH2, KCNA5, KCNJ2, KCNE1, KCNE3

Compounds for genes affiliated with Familial Atrial Fibrillation

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB
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Compounds related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1chromanol4510.4KCNE1, KCNQ1
2indapamide45 1111.3KCNQ1, KCNE1
3chromanol 293b61 45 2912.3KCNQ1, KCNE1
4bupivacaine45 29 1112.1KCNH2, KCNA5
5bepridil45 29 1112.1KCNH2, KCNQ1
6clofilium45 2911.1KCNH2, KCNA5, KCNQ1
7mexiletine51 45 1112.1SCN5A, KCNH2
8tetraethylammonium45 29 1112.0KCNH2, KCNJ2, KCNQ1
9qx 314 chloride6110.0SCN4B, SCN5A
10tetrodotoxin citrate6110.0SCN4B, SCN5A
11phrixotoxin 36110.0SCN4B, SCN5A
12terfenadine45 29 1112.0KCNA5, KCNH2
13flecainide51 45 29 1113.0SCN5A, KCNA5, KCNH2
14propafenone29 45 51 1113.0KCNH2, KCNA5, SCN5A
15veratridine45 61 2911.9SCN4B, SCN5A
16quinidine45 29 51 1112.9SCN5A, KCNA5, KCNH2
17isoleucine459.9SCN5A, KCNQ1, KCNH2
18metoprolol45 51 29 24 1113.9KCNH2, NPPA
19cisapride45 29 1111.8SCN5A, KCNH2
20nitrendipine45 51 29 1112.7NPPA, KCNH2
21spironolactone45 61 29 51 1113.7NPPA, KCNH2
22isoproterenol45 1110.7NPPA, KCNQ1, KCNJ2, KCNH2
235-aza-2deoxycytidine459.4GATA4, GATA6, GATA5
24e-4031 dihydrochloride619.3KCNE1, KCNE3, KCNE2, KCNQ1, KCNA5, KCNH2
25xe 991 dihydrochloride619.3KCNH2, KCNA5, KCNE1, KCNE3, KCNE2, KCNQ1
26jnj 303619.3KCNQ1, KCNE2, KCNE3, KCNE1, KCNA5, KCNH2
27shk-dap22619.3KCNQ1, KCNE2, KCNE3, KCNE1, KCNA5, KCNH2
28ica 110381619.3KCNQ1, KCNE2, KCNH2, KCNA5, KCNE1, KCNE3
29zinc45 2410.0LMNA, NKX2-5, GATA5, GATA6, GATA4
30nitric oxide45 24 1111.0NPPA, GATA4, GJA5, NKX2-5, KCNE1
31cyclic amp45 249.9KCNH2, KCNE3, PRKAR1B, GATA4, NPPA
32retinoic acid45 249.8KCNH2, LMNA, GJA5, GATA6, GATA4
33arginine458.7KCNH2, KCNJ2, KCNE1, KCNQ1, SCN5A, LMNA
34potassium45 24 1110.5NPPA, KCNH2, KCNA5, KCNJ2, KCNE1, KCNE3
35sodium45 249.5KCNH2, KCNE1, KCNE2, KCNQ1, SCN4B, SCN5A
36serine458.4KCNH2, KCNE1, KCNQ1, SCN5A, LMNA, NKX2-5
37calcium45 51 24 1111.3KCNH2, KCNA5, KCNJ2, KCNQ1, SCN5A, LMNA

GO Terms for genes affiliated with Familial Atrial Fibrillation

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16Gene Ontology
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Cellular components related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:0015189.7SCN5A, SCN4B
2lysosomeGO:0057649.5KCNQ1, KCNE2, KCNE1
3cell surfaceGO:0099869.2KCNH2, KCNE1, KCNE2, SCN5A
4intercalated discGO:0147049.2KCNA5, KCNJ2, SCN4B, SCN5A, GJA5
5voltage-gated potassium channel complexGO:0080768.9KCNE1L, KCNQ1, KCNE2, KCNE1, KCNJ2, KCNA5
6plasma membraneGO:0058868.2KCNA5, KCNJ2, KCNE1, KCNE2, KCNQ1, SCN5A

Biological processes related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1regulation of delayed rectifier potassium channel activityGO:190225910.4KCNE1, KCNE2
2potassium ion importGO:01010710.4KCNJ2, KCNE2
3regulation of potassium ion transportGO:04326610.3KCNA5, KCNE3
4membrane repolarizationGO:08600910.3KCNE1, KCNE2
5regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.3SCN5A, GJA5
6regulation of atrial cardiac muscle cell membrane depolarizationGO:06037110.3SCN5A, GJA5
7bundle of His cell to Purkinje myocyte communicationGO:08606910.2GJA5, SCN5A
8negative regulation of potassium ion transmembrane transportGO:190138010.2KCNH2, KCNE1L
9potassium ion homeostasisGO:05507510.2KCNH2, KCNA5
10potassium ion transportGO:00681310.1KCNA5, KCNJ2, GJA5
11regulation of cardiac muscle cell contractionGO:08600410.1GATA4, SCN5A
12membrane depolarization during action potentialGO:08601010.1KCNH2, SCN5A
13ventricular septum developmentGO:00328110.1GATA4, GJA5
14AV node cell to bundle of His cell communicationGO:08606710.1SCN4B, SCN5A
15cardiac conduction system developmentGO:00316110.1NKX2-5, GJA5
16intestinal epithelial cell differentiationGO:06057510.1GATA5, GATA6, GATA4
17regulation of heart contractionGO:00801610.1KCNE1L, KCNQ1
18atrial cardiac muscle cell action potentialGO:08601410.1GJA5, KCNE1L, KCNQ1, KCNA5
19cellular response to drugGO:03569010.1KCNQ1, KCNE2, KCNH2
20cellular response to BMP stimulusGO:07177310.0GATA5, GATA6
21regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.0SCN5A, KCNE1L, KCNQ1, KCNA5
22regulation of cardiac muscle contractionGO:05511710.0GJA5, NKX2-5
23cardiac muscle hypertrophy in response to stressGO:0148989.9GATA6, GATA4, NPPA
24outflow tract septum morphogenesisGO:0031489.9GATA6, NKX2-5
25embryonic heart tube developmentGO:0350509.9GJA5, NKX2-5
26membrane depolarization during cardiac muscle cell action potentialGO:0860129.9SCN5A, SCN4B, KCNJ2
27positive regulation of cardiac muscle cell proliferationGO:0600459.9GATA6, GATA4
28ventricular cardiac muscle cell developmentGO:0550159.8LMNA, NKX2-5
29male gonad developmentGO:0085849.8KCNE1, KCNQ1, GATA6, GATA4
30cardiac muscle cell differentiationGO:0550079.8GATA6, NKX2-5
31atrial septum morphogenesisGO:0604139.8NKX2-5, GJA5, GATA4
32positive regulation of cardioblast differentiationGO:0518919.8NKX2-5, GATA6, GATA4
33regulation of potassium ion transmembrane transportGO:19013799.8KCNH2, KCNE1, KCNE2, KCNE1L
34regulation of membrane repolarizationGO:0603069.7KCNH2, KCNJ2, KCNE2, KCNQ1, KCNE1L
35synaptic transmissionGO:0072689.7KCNH2, KCNA5, KCNJ2, KCNQ1
36ventricular septum morphogenesisGO:0604129.6GJA5, NKX2-5
37membrane repolarization during action potentialGO:0860119.6KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1
38membrane repolarization during cardiac muscle cell action potentialGO:0860139.6KCNE1L, KCNQ1, KCNE1, KCNJ2, KCNH2
39positive regulation of potassium ion transmembrane transportGO:19013819.6KCNH2, KCNJ2, KCNE1, KCNQ1, KCNE1L
40positive regulation of sodium ion transportGO:0107659.6NKX2-5, SCN5A, SCN4B
41cardiac muscle cell action potential involved in contractionGO:0860029.5KCNJ2, KCNE1, KCNE2, SCN4B, SCN5A
42potassium ion exportGO:0714359.4KCNH2, KCNE1L, KCNQ1, KCNE2, KCNE1, KCNA5
43potassium ion transmembrane transportGO:0718059.4KCNH2, KCNJ2, KCNE1, KCNE2, KCNQ1, KCNE1L
44ventricular cardiac muscle cell action potentialGO:0860059.1GJA5, SCN5A, KCNE1L, KCNQ1, KCNE2, KCNE1
45blood coagulationGO:0075968.8PRKAR1B, GATA5, GATA6, GATA4
46cardiac muscle contractionGO:0600488.8KCNH2, KCNQ1, KCNE1L, SCN4B, SCN5A, NKX2-5
47regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603078.6KCNH2, KCNE1, KCNE2, KCNQ1, GJA5, SCN5A
48regulation of heart rate by cardiac conductionGO:0860918.2GJA5, SCN5A, SCN4B, KCNE1L, KCNQ1, KCNE2

Molecular functions related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarizationGO:08608910.2KCNQ1, KCNA5
2outward rectifier potassium channel activityGO:01527110.1KCNQ1, KCNA5
3scaffold protein bindingGO:09711010.0SCN5A, KCNQ1, KCNA5
4voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.9KCNE1L, KCNJ2, KCNE1, KCNQ1
5inward rectifier potassium channel activityGO:0052429.9KCNH2, KCNJ2, KCNE2
6voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:0860069.8SCN5A, SCN4B
7potassium channel regulator activityGO:0154599.7KCNE1, KCNE3, KCNE2, KCNE1L
8voltage-gated sodium channel activityGO:0052489.7SCN5A, SCN4B
9voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022829.7KCNH2, KCNE1, KCNE2, KCNQ1
10protein kinase A catalytic subunit bindingGO:0342369.7KCNQ1, PRKAR1B
11enhancer sequence-specific DNA bindingGO:0011589.6GATA4, GATA5
12delayed rectifier potassium channel activityGO:0052519.5KCNH2, KCNA5, KCNE1, KCNE2, KCNQ1
13voltage-gated potassium channel activityGO:0052499.4KCNE1L, KCNQ1, KCNE3, KCNE1, KCNH2
14RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.4GATA4, GATA6, GATA5, NKX2-5
15ion channel bindingGO:0443259.4KCNE2, KCNQ1, KCNE1L, SCN4B, SCN5A
16transcription regulatory region DNA bindingGO:0442129.3NKX2-5, GATA5, GATA6, GATA4

Products for genes affiliated with Familial Atrial Fibrillation

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Sources for Familial Atrial Fibrillation

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet