BRGDA4
MCID: BRG004
MIFTS: 46

Brugada Syndrome 4 (BRGDA4)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 4

MalaCards integrated aliases for Brugada Syndrome 4:

Name: Brugada Syndrome 4 57 12 20 72 29 13 6 15 70
Brgda4 57 12 72
Syndrome, Brugada, Type 4 39

Characteristics:

HPO:

31
brugada syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110221
OMIM® 57 611876
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 I49.8
MedGen 41 C2678477
UMLS 70 C2678477

Summaries for Brugada Syndrome 4

OMIM® : 57 Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). For a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 (601144). (611876) (Updated 20-May-2021)

MalaCards based summary : Brugada Syndrome 4, also known as brgda4, is related to properdin deficiency, x-linked and arrhythmogenic right ventricular dysplasia, familial, 12. An important gene associated with Brugada Syndrome 4 is CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Integrin Pathway. Affiliated tissues include heart and retina, and related phenotypes are syncope and atrial fibrillation

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.

UniProtKB/Swiss-Prot : 72 Brugada syndrome 4: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Related Diseases for Brugada Syndrome 4

Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

Diseases related to Brugada Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency, x-linked 10.0 KCNJ2 KCNH2
2 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 KCNH2 CACNB2
3 long qt syndrome 15 10.0 KCNJ2 CACNA1C
4 t cell and nk cell immunodeficiency 10.0 STIM1 CACNA1C
5 headache 10.0 CACNB2 CACNA1D CACNA1C
6 second-degree atrioventricular block 9.9 SCN5A CACNA1D
7 immunodeficiency 10 9.9 STIM1 CACNA1C
8 idiopathic ventricular fibrillation, non brugada type 9.9 SCN5A CACNA1C
9 long qt syndrome 11 9.9 KCNQ1 KCNJ2 CACNA1C
10 fleck retina, familial benign 9.9 CAV1 CACNA1D CACNA1C
11 first-degree atrioventricular block 9.8 SCN5A KCNJ2 KCNH2
12 hypokalemia 9.8 KCNQ1 KCNH2 CACNA1D
13 long qt syndrome 10 9.8 SCN5A KCNQ1 KCNJ2
14 neuromuscular junction disease 9.7 SCN5A KCNH2 CACNA1C
15 familial short qt syndrome 9.7 KCNQ1 KCNJ2 KCNH2 CACNA2D1
16 cardiac conduction defect 9.7 SCN5A KCNQ1 CACNA1C
17 congenital stationary night blindness 9.7 CAV1 CACNA2D4 CACNA1D CACNA1C
18 long qt syndrome 12 9.7 SCN5A KCNQ1 KCNH2
19 developmental and epileptic encephalopathy 14 9.7 SCN5A KCNQ1 KCNH2
20 isolated elevated serum creatine phosphokinase levels 9.7 SCN5A CAV1 CACNA1C
21 syncope 9.7 SCN5A KCNQ1 KCNH2
22 familial periodic paralysis 9.7 SCN5A KCNJ2 CACNA1D CACNA1C
23 right bundle branch block 9.7 SCN5A KCNH2 CACNB2 CACNA1C
24 familial long qt syndrome 9.7 SCN5A KCNQ1 KCNH2
25 hypokalemic periodic paralysis, type 1 9.7 SCN5A KCNJ2 CACNA1D CACNA1C
26 noonan syndrome with multiple lentigines 9.7 SCN5A KCNQ1 KCNH2
27 third-degree atrioventricular block 9.7 SCN5A KCNJ2 KCNH2 CACNA1D
28 chromosome 2q35 duplication syndrome 9.6 KCNQ1 KCNJ2 KCNH2 CACNA1C
29 brugada syndrome 1 9.6 SCN5A KCNH2
30 atrial fibrillation 9.6 SCN5A KCNQ1 KCNJ2 KCNH2
31 long qt syndrome 13 9.6 SCN5A KCNQ1 KCNJ2 KCNH2
32 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
33 cardiac arrhythmia 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
34 atrioventricular block 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
35 ventricular fibrillation, paroxysmal familial, 1 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
36 progressive familial heart block 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
37 sudden infant death syndrome 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
38 congestive heart failure 9.5 SCN5A KCNQ1 CACNA1C
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
40 cardiac arrest 9.4 SCN5A KCNQ1 KCNH2 CACNB2 CACNA2D1
41 long qt syndrome 14 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
42 long qt syndrome 5 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
43 long qt syndrome 6 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
44 long qt syndrome 9 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
45 long qt syndrome 3 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
46 andersen cardiodysrhythmic periodic paralysis 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
47 cardiac arrhythmia, ankyrin-b-related 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
48 jervell and lange-nielsen syndrome 1 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
49 myasthenic syndrome, congenital, 5 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
50 long qt syndrome 2 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C

Graphical network of the top 20 diseases related to Brugada Syndrome 4:



Diseases related to Brugada Syndrome 4

Symptoms & Phenotypes for Brugada Syndrome 4

Human phenotypes related to Brugada Syndrome 4:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 atrial fibrillation 31 HP:0005110
3 shortened qt interval 31 HP:0012232

Clinical features from OMIM®:

611876 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Brugada Syndrome 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 CACNA2D4 GUK1 KCNH2 KCNQ1

MGI Mouse Phenotypes related to Brugada Syndrome 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNA2D4
2 cardiovascular system MP:0005385 10.07 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNA2D4
3 growth/size/body region MP:0005378 9.9 BRS3 CACNA1C CACNA1D CACNA2D2 CACNB2 CAV1
4 homeostasis/metabolism MP:0005376 9.7 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNB2
5 muscle MP:0005369 9.23 CACNA1C CACNA2D1 CACNA2D2 CAV1 KCNH2 KCNJ2

Drugs & Therapeutics for Brugada Syndrome 4

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 4

Genetic Tests for Brugada Syndrome 4

Genetic tests related to Brugada Syndrome 4:

# Genetic test Affiliating Genes
1 Brugada Syndrome 4 29 CACNB2

Anatomical Context for Brugada Syndrome 4

MalaCards organs/tissues related to Brugada Syndrome 4:

40
Heart, Retina

Publications for Brugada Syndrome 4

Articles related to Brugada Syndrome 4:

# Title Authors PMID Year
1
Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 57 6
19358333 2009
2
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 57 6
17224476 2007
3
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 57
22840528 2012
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
5
Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. 61
23671135 2013
6
[Cardiac perforation as a late complication in a man with an implantable cardioverter-defibrillator]. 61
18383974 2008
7
[Characterization of premature ventricular contraction initiating ventricular fibrillation]. 61
16231572 2005
8
Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. 61
16155735 2005

Variations for Brugada Syndrome 4

ClinVar genetic disease variations for Brugada Syndrome 4:

6 (show top 50) (show all 196)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1208_1209insAAGT (p.Leu404fs) Insertion Pathogenic 998230 GRCh37: 10:18825029-18825030
GRCh38: 10:18536100-18536101
2 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) SNV Pathogenic 9547 rs121917812 GRCh37: 10:18828274-18828274
GRCh38: 10:18539345-18539345
3 CACNB2 NM_201596.3(CACNB2):c.214-60966C>T SNV Pathogenic 156228 rs587777742 GRCh37: 10:18629887-18629887
GRCh38: 10:18340958-18340958
4 CACNB2 NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) SNV Conflicting interpretations of pathogenicity 161209 rs200367454 GRCh37: 10:18787330-18787330
GRCh38: 10:18498401-18498401
5 CACNB2 NM_201596.3(CACNB2):c.667T>A (p.Ser223Thr) SNV Uncertain significance 573272 rs1564629335 GRCh37: 10:18795473-18795473
GRCh38: 10:18506544-18506544
6 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) SNV Uncertain significance 573799 rs140614930 GRCh37: 10:18816590-18816590
GRCh38: 10:18527661-18527661
7 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.686C>A (p.Ala229Asp) SNV Uncertain significance 574234 rs145885745 GRCh37: 10:18803180-18803180
GRCh38: 10:18514251-18514251
8 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) SNV Uncertain significance 402474 rs145638628 GRCh37: 10:18827163-18827163
GRCh38: 10:18538234-18538234
9 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile) SNV Uncertain significance 575314 rs752546853 GRCh37: 10:18825030-18825030
GRCh38: 10:18536101-18536101
10 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val) SNV Uncertain significance 575601 rs578106427 GRCh37: 10:18823074-18823074
GRCh38: 10:18534145-18534145
11 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) SNV Uncertain significance 575677 rs199714857 GRCh37: 10:18828351-18828351
GRCh38: 10:18539422-18539422
12 CACNB2 NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr) SNV Uncertain significance 577052 rs1564509094 GRCh37: 10:18690929-18690929
GRCh38: 10:18402000-18402000
13 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1913A>G (p.Asp638Gly) SNV Uncertain significance 578881 rs372277783 GRCh37: 10:18828583-18828583
GRCh38: 10:18539654-18539654
14 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) SNV Uncertain significance 190717 rs142639223 GRCh37: 10:18828372-18828372
GRCh38: 10:18539443-18539443
15 CACNB2 NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu) SNV Uncertain significance 583181 rs747658821 GRCh37: 10:18787374-18787374
GRCh38: 10:18498445-18498445
16 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) SNV Uncertain significance 299567 rs546669133 GRCh37: 10:18828606-18828606
GRCh38: 10:18539677-18539677
17 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1663T>C (p.Phe555Leu) SNV Uncertain significance 642210 rs1589778402 GRCh37: 10:18828333-18828333
GRCh38: 10:18539404-18539404
18 CACNB2 NM_201596.3(CACNB2):c.353C>T (p.Ala118Val) SNV Uncertain significance 645733 rs371859398 GRCh37: 10:18787303-18787303
GRCh38: 10:18498374-18498374
19 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) SNV Uncertain significance 190737 rs367619172 GRCh37: 10:18828511-18828511
GRCh38: 10:18539582-18539582
20 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1001A>G (p.Asn334Ser) SNV Uncertain significance 648108 rs1589701386 GRCh37: 10:18816573-18816573
GRCh38: 10:18527644-18527644
21 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1017C>A (p.His339Gln) SNV Uncertain significance 651565 rs747015946 GRCh37: 10:18816589-18816589
GRCh38: 10:18527660-18527660
22 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) SNV Uncertain significance 180290 rs730880059 GRCh37: 10:18828312-18828312
GRCh38: 10:18539383-18539383
23 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly) SNV Uncertain significance 660294 rs202152674 GRCh37: 10:18828261-18828261
GRCh38: 10:18539332-18539332
24 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1562G>A (p.Ser521Asn) SNV Uncertain significance 665898 rs1359160320 GRCh37: 10:18828232-18828232
GRCh38: 10:18539303-18539303
25 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) SNV Uncertain significance 537364 rs144367884 GRCh37: 10:18823005-18823005
GRCh38: 10:18534076-18534076
26 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.994G>T (p.Val332Leu) SNV Uncertain significance 537365 rs369543094 GRCh37: 10:18816566-18816566
GRCh38: 10:18527637-18527637
27 CACNB2 NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly) SNV Uncertain significance 537366 rs1554831392 GRCh37: 10:18787387-18787387
GRCh38: 10:18498458-18498458
28 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) SNV Uncertain significance 537367 rs994878062 GRCh37: 10:18828492-18828492
GRCh38: 10:18539563-18539563
29 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys) SNV Uncertain significance 537368 rs774654438 GRCh37: 10:18828309-18828309
GRCh38: 10:18539380-18539380
30 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr) SNV Uncertain significance 537369 rs1554835149 GRCh37: 10:18803204-18803204
GRCh38: 10:18514275-18514275
31 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys) SNV Uncertain significance 537370 rs750387227 GRCh37: 10:18828294-18828294
GRCh38: 10:18539365-18539365
32 CACNB2 NM_201596.3(CACNB2):c.442C>G (p.Leu148Val) SNV Uncertain significance 537371 rs1554831400 GRCh37: 10:18787392-18787392
GRCh38: 10:18498463-18498463
33 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro) SNV Uncertain significance 537372 rs373826838 GRCh37: 10:18828417-18828417
GRCh38: 10:18539488-18539488
34 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) SNV Uncertain significance 537373 rs561197163 GRCh37: 10:18816539-18816539
GRCh38: 10:18527610-18527610
35 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1874G>A (p.Arg625His) SNV Uncertain significance 537374 rs772911828 GRCh37: 10:18828544-18828544
GRCh38: 10:18539615-18539615
36 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1488+6G>A SNV Uncertain significance 537376 rs966376165 GRCh37: 10:18827300-18827300
GRCh38: 10:18538371-18538371
37 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys) SNV Uncertain significance 216845 rs551742573 GRCh37: 10:18827238-18827238
GRCh38: 10:18538309-18538309
38 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1665T>G (p.Phe555Leu) SNV Uncertain significance 242262 rs878855311 GRCh37: 10:18828335-18828335
GRCh38: 10:18539406-18539406
39 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) SNV Uncertain significance 242259 rs139749312 GRCh37: 10:18823128-18823128
GRCh38: 10:18534199-18534199
40 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr) SNV Uncertain significance 411701 rs778426010 GRCh37: 10:18816597-18816597
GRCh38: 10:18527668-18527668
41 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) SNV Uncertain significance 411704 rs148674271 GRCh37: 10:18823026-18823026
GRCh38: 10:18534097-18534097
42 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup) Duplication Uncertain significance 411705 rs1554843116 GRCh37: 10:18828518-18828519
GRCh38: 10:18539589-18539590
43 CACNB2 NM_201596.3(CACNB2):c.544A>G (p.Met182Val) SNV Uncertain significance 411702 rs775466397 GRCh37: 10:18789828-18789828
GRCh38: 10:18500899-18500899
44 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) SNV Uncertain significance 411700 rs1039406883 GRCh37: 10:18828202-18828202
GRCh38: 10:18539273-18539273
45 CACNB2 NM_201596.3(CACNB2):c.403G>T (p.Val135Leu) SNV Uncertain significance 411703 rs1060503435 GRCh37: 10:18787353-18787353
GRCh38: 10:18498424-18498424
46 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) SNV Uncertain significance 417912 rs545095722 GRCh37: 10:18828498-18828498
GRCh38: 10:18539569-18539569
47 CACNB2 NM_201596.3(CACNB2):c.214-60996T>C SNV Uncertain significance 469644 rs1401122407 GRCh37: 10:18629857-18629857
GRCh38: 10:18340928-18340928
48 CACNB2 NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) SNV Uncertain significance 469645 rs144461906 GRCh37: 10:18789769-18789769
GRCh38: 10:18500840-18500840
49 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1206+3A>T SNV Uncertain significance 180291 rs200174877 GRCh37: 10:18823159-18823159
GRCh38: 10:18534230-18534230
50 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr) SNV Uncertain significance 469643 rs1554843232 GRCh37: 10:18828595-18828595
GRCh38: 10:18539666-18539666

Expression for Brugada Syndrome 4

Search GEO for disease gene expression data for Brugada Syndrome 4.

Pathways for Brugada Syndrome 4

Pathways related to Brugada Syndrome 4 according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 SCN5A CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
2
Show member pathways
13.32 CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
3
Show member pathways
13.21 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
4
Show member pathways
12.98 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
5
Show member pathways
12.94 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D2 CACNA2D1
6
Show member pathways
12.83 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
7
Show member pathways
12.81 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
8 12.73 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
9
Show member pathways
12.65 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
10
Show member pathways
12.64 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
11
Show member pathways
12.62 SCN5A CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
12
Show member pathways
12.56 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
13
Show member pathways
12.55 SCN5A CACNA2D4 CACNA2D2 CACNA2D1
14
Show member pathways
12.48 KCNJ2 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
15
Show member pathways
12.44 CACNB2 CACNA2D2 CACNA1D CACNA1C
16
Show member pathways
12.42 SCN5A KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
17
Show member pathways
12.42 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2
18 12.36 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA1D CACNA1C
19
Show member pathways
12.29 CACNB2 CACNA2D2 CACNA1D CACNA1C
20
Show member pathways
12.27 CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
21
Show member pathways
12.26 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
22 12.16 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
23 12.09 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
24 12.06 SCN5A KCNQ1 KCNH2
25
Show member pathways
12.02 KCNQ1 KCNJ2 KCNH2
26 11.78 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
27 11.7 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
28 11.64 KCNJ2 CACNA1D CACNA1C
29 11.56 KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
30 11.54 CACNB2 CACNA2D1 CACNA1D CACNA1C
31 11.45 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA1D
32 11.35 CACNB2 CACNA1D CACNA1C
33
Show member pathways
11.1 SCN5A KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
34 11.03 CACNA1D CACNA1C
35 10.94 CACNA1D CACNA1C
36 10.93 KCNQ1 KCNJ2
37 10.72 CACNA1D CACNA1C

GO Terms for Brugada Syndrome 4

Cellular components related to Brugada Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.29 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CAV1
2 integral component of membrane GO:0016021 10.15 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CAV1
3 plasma membrane GO:0005886 10.07 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CAV1
4 integral component of plasma membrane GO:0005887 9.95 STIM1 KCNJ2 KCNH2 CAV1 CACNB2 CACNA1C
5 Z disc GO:0030018 9.63 SCN5A CACNA1D CACNA1C
6 sarcolemma GO:0042383 9.62 SCN5A CAV1 CACNB2 CACNA1C
7 voltage-gated potassium channel complex GO:0008076 9.61 KCNQ1 KCNJ2 KCNH2
8 T-tubule GO:0030315 9.46 SCN5A KCNJ2 CACNA2D1 CACNA1C
9 L-type voltage-gated calcium channel complex GO:1990454 9.26 CACNB2 CACNA2D1 CACNA1D CACNA1C
10 voltage-gated calcium channel complex GO:0005891 9.1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C

Biological processes related to Brugada Syndrome 4 according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.06 SCN5A KCNQ1 KCNH2 CACNA1D CACNA1C
2 ion transport GO:0006811 10.06 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2
3 calcium ion transmembrane transport GO:0070588 9.95 STIM1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
4 potassium ion transport GO:0006813 9.86 KCNQ1 KCNJ2 KCNH2
5 potassium ion transmembrane transport GO:0071805 9.86 KCNQ1 KCNJ2 KCNH2
6 calcium ion transport GO:0006816 9.86 STIM1 CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
7 regulation of insulin secretion GO:0050796 9.81 CACNA2D2 CACNA1D CACNA1C
8 regulation of heart rate by cardiac conduction GO:0086091 9.81 SCN5A KCNQ1 KCNJ2 KCNH2 CAV1 CACNB2
9 cardiac muscle contraction GO:0060048 9.79 SCN5A KCNQ1 KCNH2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 SCN5A KCNJ2 CACNA2D1 CACNA1D CACNA1C
11 calcium ion import GO:0070509 9.76 CACNB2 CACNA1D CACNA1C
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.76 SCN5A KCNQ1 KCNH2 CACNA2D1
13 ventricular cardiac muscle cell action potential GO:0086005 9.75 SCN5A KCNQ1 KCNH2
14 positive regulation of potassium ion transmembrane transport GO:1901381 9.74 KCNQ1 KCNJ2 KCNH2
15 regulation of membrane repolarization GO:0060306 9.73 KCNQ1 KCNJ2 KCNH2
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 SCN5A KCNJ2 CACNA1D CACNA1C
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 KCNQ1 KCNJ2 KCNH2
18 membrane repolarization during action potential GO:0086011 9.71 KCNQ1 KCNJ2 KCNH2
19 positive regulation of adenylate cyclase activity GO:0045762 9.7 STIM1 CACNA1D CACNA1C
20 regulation of calcium ion transport GO:0051924 9.69 STIM1 CACNA2D1
21 positive regulation of calcium ion transport GO:0051928 9.69 CACNB2 CACNA1D
22 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.69 SCN5A KCNQ1 CACNA1D
23 membrane depolarization GO:0051899 9.68 SCN5A CAV1
24 regulation of potassium ion transmembrane transport GO:1901379 9.68 KCNH2 CACNA1D
25 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
26 potassium ion export across plasma membrane GO:0097623 9.67 KCNQ1 KCNH2
27 calcium ion transport into cytosol GO:0060402 9.67 CACNA2D1 CACNA1C
28 membrane depolarization during AV node cell action potential GO:0086045 9.67 SCN5A CACNB2 CACNA1C
29 regulation of cardiac muscle cell contraction GO:0086004 9.66 SCN5A KCNJ2
30 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.66 KCNQ1 KCNH2
31 negative regulation of potassium ion transmembrane transport GO:1901380 9.65 KCNH2 CAV1
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 CAV1 CACNA1C
33 membrane repolarization GO:0086009 9.65 KCNQ1 KCNH2
34 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.65 SCN5A CACNB2 CACNA1C
35 cardiac conduction GO:0061337 9.65 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D4
36 atrial cardiac muscle cell action potential GO:0086014 9.64 SCN5A KCNQ1
37 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.63 CACNB2 CACNA2D1
38 membrane depolarization during SA node cell action potential GO:0086046 9.63 SCN5A CACNA1D
39 induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration GO:0099703 9.62 CACNB2 CACNA1D
40 positive regulation of presynaptic cytosolic calcium concentration GO:0099533 9.62 CACNB2 CACNA1D
41 regulation of membrane repolarization during action potential GO:0098903 9.61 CAV1 CACNA2D1
42 membrane depolarization during bundle of His cell action potential GO:0086048 9.6 SCN5A CACNA2D1
43 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.59 CACNA2D1 CACNA1C
44 regulation of ion transmembrane transport GO:0034765 9.32 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D4

Molecular functions related to Brugada Syndrome 4 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 SCN5A KCNQ1 KCNH2 CACNA1D CACNA1C
2 calcium channel activity GO:0005262 9.73 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
3 ion channel binding GO:0044325 9.72 SCN5A KCNQ1 CAV1
4 scaffold protein binding GO:0097110 9.63 SCN5A KCNQ1 KCNH2
5 ankyrin binding GO:0030506 9.54 SCN5A CACNA1D
6 high voltage-gated calcium channel activity GO:0008331 9.54 CACNB2 CACNA1D CACNA1C
7 inward rectifier potassium channel activity GO:0005242 9.52 KCNJ2 KCNH2
8 alpha-actinin binding GO:0051393 9.51 CACNA1D CACNA1C
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNQ1 KCNJ2 KCNH2
10 nitric-oxide synthase binding GO:0050998 9.49 SCN5A CAV1
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.48 KCNQ1 KCNH2
12 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.46 CACNB2 CACNA2D1 CACNA1D CACNA1C
13 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.43 CACNB2 CACNA1C
14 voltage-gated calcium channel activity GO:0005245 9.43 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
15 voltage-gated ion channel activity GO:0005244 9.32 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D4

Sources for Brugada Syndrome 4

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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