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 56 12 52 73 29 13 6 15 71
Brgda4 56 12 73
Syndrome, Brugada, Type 4 39

Characteristics:

HPO:

31
brugada syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110221
OMIM 56 611876
OMIM Phenotypic Series 56 PS601144
MeSH 43 D053840
ICD10 32 I49.8
MedGen 41 C2678477
UMLS 71 C2678477

Summaries for Brugada Syndrome 4

OMIM : 56 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)

MalaCards based summary : Brugada Syndrome 4, also known as brgda4, is related to cone-rod dystrophy, x-linked, 3 and long qt syndrome 15. 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 testes, 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 : 73 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 66)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy, x-linked, 3 10.3 CACNB2 CACNA2D4
2 long qt syndrome 15 10.1 KCNJ2 CACNA1C
3 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 KCNH2 CACNB2
4 headache 10.0 CACNB2 CACNA1D CACNA1C
5 second-degree atrioventricular block 9.9 SCN5A CACNA1D
6 first-degree atrioventricular block 9.9 SCN5A KCNJ2
7 long qt syndrome 11 9.9 KCNQ1 KCNJ2 CACNA1C
8 long qt syndrome 10 9.8 SCN5A KCNQ1 KCNJ2
9 chromosome 2q35 duplication syndrome 9.8 KCNQ1 KCNJ2 CACNA1C
10 hypokalemia 9.7 KCNQ1 KCNH2 CACNA1D
11 familial short qt syndrome 9.7 KCNQ1 KCNJ2 KCNH2 CACNA2D1
12 neuromuscular junction disease 9.7 SCN5A KCNH2 CACNA1C
13 brugada syndrome 1 9.7 SCN5A KCNH2
14 cardiac conduction defect 9.7 SCN5A KCNQ1 KCNH2
15 epileptic encephalopathy, early infantile, 14 9.7 SCN5A KCNQ1 KCNH2
16 syncope 9.7 SCN5A KCNQ1 KCNH2
17 progressive familial heart block 9.7 SCN5A KCNQ1 KCNH2
18 familial periodic paralysis 9.6 SCN5A KCNJ2 CACNA1D CACNA1C
19 right bundle branch block 9.6 SCN5A KCNH2 CACNB2 CACNA1C
20 hyperkalemic periodic paralysis 9.6 SCN5A KCNJ2
21 hypokalemic periodic paralysis, type 1 9.6 SCN5A KCNJ2 CACNA1D CACNA1C
22 third-degree atrioventricular block 9.6 SCN5A KCNJ2 KCNH2 CACNA1D
23 early infantile epileptic encephalopathy 9.5 SCN5A KCNQ1 CACNA2D2 CACNA2D1
24 long qt syndrome 13 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
25 long qt syndrome 12 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
26 sick sinus syndrome 9.5 SCN5A KCNQ1 KCNJ2 CACNA1C
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
28 wolff-parkinson-white syndrome 9.5 SCN5A KCNQ1 KCNJ2 KCNH2
29 ventricular fibrillation, paroxysmal familial, 1 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
30 atrioventricular block 9.5 SCN5A KCNQ1 KCNH2 CACNA1C
31 congestive heart failure 9.5 SCN5A KCNQ1 KCNJ2 CACNA1C
32 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.4 SCN5A KCNQ1 KCNH2 CACNA1C
33 isolated elevated serum creatine phosphokinase levels 9.4 SCN5A CAV1 CACNA1C
34 cardiac arrest 9.4 SCN5A KCNQ1 KCNH2 CACNB2 CACNA2D1
35 congenital stationary night blindness 9.4 CAV1 CACNA2D4 CACNA1D CACNA1C
36 atrial fibrillation 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
37 familial long qt syndrome 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
38 long qt syndrome 14 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
39 long qt syndrome 6 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
40 long qt syndrome 5 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
41 long qt syndrome 9 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
42 long qt syndrome 3 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
43 jervell and lange-nielsen syndrome 1 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
44 cardiac arrhythmia 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
45 cardiac arrhythmia, ankyrin-b-related 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
46 andersen cardiodysrhythmic periodic paralysis 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
47 myasthenic syndrome, congenital, 5 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
48 long qt syndrome 2 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
49 heart conduction disease 9.2 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
50 intrinsic cardiomyopathy 9.2 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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNA2D4
2 cardiovascular system MP:0005385 10.13 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNA2D4
3 growth/size/body region MP:0005378 10 BRS3 CACNA1D CACNA2D2 CACNB2 CAV1 KCNH2
4 homeostasis/metabolism MP:0005376 9.9 BRS3 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNB2
5 muscle MP:0005369 9.56 CACNA1C CACNA2D1 CACNA2D2 CAV1 KCNH2 KCNJ2
6 nervous system MP:0003631 9.32 CACNA1C CACNA1D CACNA2D1 CACNA2D2 CACNB2 CAV1

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, Testes

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. 6 56
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. 6 56
17224476 2007
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
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. 56
22840528 2012
5
Brugada Syndrome 6
20301690 2005
6
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
7
Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. 61
23671135 2013
8
[Cardiac perforation as a late complication in a man with an implantable cardioverter-defibrillator]. 61
18383974 2008
9
[Characterization of premature ventricular contraction initiating ventricular fibrillation]. 61
16231572 2005
10
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 131) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNB2 NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)SNV Pathogenic 9547 rs121917812 10:18828274-18828274 10:18539345-18539345
2 CACNB2 NM_201596.3(CACNB2):c.214-60966C>TSNV Pathogenic 156228 rs587777742 10:18629887-18629887 10:18340958-18340958
3 CACNB2 NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)SNV Conflicting interpretations of pathogenicity 161209 rs200367454 10:18787330-18787330 10:18498401-18498401
4 CACNB2 NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)SNV Conflicting interpretations of pathogenicity 161210 rs150528041 10:18789874-18789874 10:18500945-18500945
5 CACNB2 NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)SNV Conflicting interpretations of pathogenicity 161211 rs149253719 10:18795447-18795447 10:18506518-18506518
6 CACNB2 NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)SNV Conflicting interpretations of pathogenicity 161212 rs143326262 10:18828181-18828181 10:18539252-18539252
7 CACNB2 NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)SNV Conflicting interpretations of pathogenicity 161213 rs144182966 10:18828446-18828446 10:18539517-18539517
8 CACNB2 NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)SNV Conflicting interpretations of pathogenicity 180290 rs730880059 10:18828312-18828312 10:18539383-18539383
9 CACNB2 NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr)SNV Conflicting interpretations of pathogenicity 190727 rs759958799 10:18828192-18828192 10:18539263-18539263
10 CACNB2 NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)SNV Conflicting interpretations of pathogenicity 190729 rs184280124 10:18828262-18828262 10:18539333-18539333
11 CACNB2 NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)SNV Conflicting interpretations of pathogenicity 190730 rs137886839 10:18828340-18828340 10:18539411-18539411
12 CACNB2 NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)SNV Conflicting interpretations of pathogenicity 190731 rs202218948 10:18828366-18828366 10:18539437-18539437
13 CACNB2 NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)SNV Conflicting interpretations of pathogenicity 190717 rs142639223 10:18828372-18828372 10:18539443-18539443
14 CACNB2 NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)SNV Conflicting interpretations of pathogenicity 190736 rs61733968 10:18828486-18828486 10:18539557-18539557
15 CACNB2 NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTAduplication Conflicting interpretations of pathogenicity 191435 rs1456201116 10:18823156-18823157 10:18534227-18534228
16 CACNB2 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly)SNV Conflicting interpretations of pathogenicity 191569 rs61733968 10:18828486-18828486 10:18539557-18539557
17 CACNB2 NM_201596.3(CACNB2):c.873G>A (p.Leu291=)SNV Conflicting interpretations of pathogenicity 198635 rs138423466 10:18807333-18807333 10:18518404-18518404
18 CACNB2 NM_201596.3(CACNB2):c.334-8C>TSNV Conflicting interpretations of pathogenicity 222521 rs374465425 10:18787276-18787276 10:18498347-18498347
19 CACNB2 NM_201596.3(CACNB2):c.993G>A (p.Ser331=)SNV Conflicting interpretations of pathogenicity 242263 rs76956014 10:18816565-18816565 10:18527636-18527636
20 CACNB2 NM_201596.3(CACNB2):c.1140T>C (p.His380=)SNV Conflicting interpretations of pathogenicity 264300 rs151199943 10:18823090-18823090 10:18534161-18534161
21 CACNB2 NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp)SNV Conflicting interpretations of pathogenicity 264509 rs137886839 10:18828340-18828340 10:18539411-18539411
22 CACNB2 NM_201596.3(CACNB2):c.1719T>C (p.Asp573=)SNV Conflicting interpretations of pathogenicity 299565 rs781283574 10:18828389-18828389 10:18539460-18539460
23 CACNB2 NM_201596.3(CACNB2):c.354G>A (p.Ala118=)SNV Conflicting interpretations of pathogenicity 299552 rs182163363 10:18787304-18787304 10:18498375-18498375
24 CACNB2 NM_201596.3(CACNB2):c.426C>T (p.Phe142=)SNV Conflicting interpretations of pathogenicity 299555 rs564275776 10:18787376-18787376 10:18498447-18498447
25 CACNB2 NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)SNV Conflicting interpretations of pathogenicity 375853 rs202152674 10:18828261-18828261 10:18539332-18539332
26 CACNB2 NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)SNV Conflicting interpretations of pathogenicity 136647 rs150280879 10:18828230-18828230 10:18539301-18539301
27 CACNB2 NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu)SNV Conflicting interpretations of pathogenicity 432156 rs755056713 10:18690857-18690857 10:18401928-18401928
28 CACNB2 NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr)SNV Uncertain significance 411701 rs778426010 10:18816597-18816597 10:18527668-18527668
29 CACNB2 NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr)SNV Uncertain significance 469643 rs1554843232 10:18828595-18828595 10:18539666-18539666
30 CACNB2 NM_201596.3(CACNB2):c.1898G>A (p.Arg633His)SNV Uncertain significance 469642 rs780045364 10:18828568-18828568 10:18539639-18539639
31 CACNB2 NM_201596.3(CACNB2):c.214-60996T>CSNV Uncertain significance 469644 rs1401122407 10:18629857-18629857 10:18340928-18340928
32 CACNB2 NM_201596.3(CACNB2):c.1858G>A (p.Glu620Lys)SNV Uncertain significance 469640 rs761643494 10:18828528-18828528 10:18539599-18539599
33 CACNB2 NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)SNV Uncertain significance 402474 rs145638628 10:18827163-18827163 10:18538234-18538234
34 CACNB2 NM_201596.3(CACNB2):c.403G>T (p.Val135Leu)SNV Uncertain significance 411703 rs1060503435 10:18787353-18787353 10:18498424-18498424
35 CACNB2 NM_201596.3(CACNB2):c.544A>G (p.Met182Val)SNV Uncertain significance 411702 rs775466397 10:18789828-18789828 10:18500899-18500899
36 CACNB2 NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly)SNV Uncertain significance 411704 rs148674271 10:18823026-18823026 10:18534097-18534097
37 CACNB2 NM_201596.3(CACNB2):c.1532G>A (p.Arg511His)SNV Uncertain significance 411700 rs1039406883 10:18828202-18828202 10:18539273-18539273
38 CACNB2 NM_201596.3(CACNB2):c.1851_1859dup (p.Asp617_Asn619dup)duplication Uncertain significance 411705 rs1554843116 10:18828518-18828519 10:18539589-18539590
39 CACNB2 NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)SNV Uncertain significance 417912 rs545095722 10:18828498-18828498 10:18539569-18539569
40 CACNB2 NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)SNV Uncertain significance 418636 rs151274272 10:18828378-18828378 10:18539449-18539449
41 CACNB2 NM_201596.3(CACNB2):c.442C>G (p.Leu148Val)SNV Uncertain significance 537371 rs1554831400 10:18787392-18787392 10:18498463-18498463
42 CACNB2 NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)SNV Uncertain significance 537373 rs561197163 10:18816539-18816539 10:18527610-18527610
43 CACNB2 NM_201596.3(CACNB2):c.1874G>A (p.Arg625His)SNV Uncertain significance 537374 rs772911828 10:18828544-18828544 10:18539615-18539615
44 CACNB2 NM_201596.3(CACNB2):c.437A>G (p.Asp146Gly)SNV Uncertain significance 537366 rs1554831392 10:18787387-18787387 10:18498458-18498458
45 CACNB2 NM_201596.3(CACNB2):c.710A>C (p.Asn237Thr)SNV Uncertain significance 537369 rs1554835149 10:18803204-18803204 10:18514275-18514275
46 CACNB2 NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro)SNV Uncertain significance 537372 rs373826838 10:18828417-18828417 10:18539488-18539488
47 CACNB2 NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys)SNV Uncertain significance 537367 rs994878062 10:18828492-18828492 10:18539563-18539563
48 CACNB2 NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val)SNV Uncertain significance 537364 rs144367884 10:18823005-18823005 10:18534076-18534076
49 CACNB2 NM_201596.3(CACNB2):c.1488+6G>ASNV Uncertain significance 537376 rs966376165 10:18827300-18827300 10:18538371-18538371
50 CACNB2 NM_201596.3(CACNB2):c.1624C>T (p.Arg542Cys)SNV Uncertain significance 537370 rs750387227 10:18828294-18828294 10:18539365-18539365

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 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 SRC SCN5A CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
2
Show member pathways
13.35 SRC CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
3
Show member pathways
13.26 SRC CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
4
Show member pathways
13 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
5
Show member pathways
13 SRC SCN5A CAV1 CACNB2 CACNA2D4 CACNA2D2
6
Show member pathways
12.95 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D2 CACNA2D1
7
Show member pathways
12.91 SRC CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
8
Show member pathways
12.88 SRC CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
9
Show member pathways
12.87 SRC CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
10 12.74 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
11
Show member pathways
12.68 SRC CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
12
Show member pathways
12.62 SRC SCN5A CACNA2D4 CACNA2D2 CACNA2D1
13
Show member pathways
12.51 SRC CACNB2 CACNA2D2 CACNA1D CACNA1C
14
Show member pathways
12.47 SCN5A KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
15
Show member pathways
12.42 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2
16 12.38 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA1D CACNA1C
17
Show member pathways
12.38 SRC KCNJ2 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
18
Show member pathways
12.31 CACNB2 CACNA2D2 CACNA1D CACNA1C
19
Show member pathways
12.3 CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
20
Show member pathways
12.27 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
21
Show member pathways
12.17 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
22 12.12 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
23
Show member pathways
12.05 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
24
Show member pathways
12.02 KCNQ1 KCNJ2 KCNH2
25 11.82 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
26 11.73 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
27 11.66 KCNJ2 CACNA1D CACNA1C
28 11.56 KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D
29 11.55 CACNB2 CACNA2D1 CACNA1D CACNA1C
30 11.45 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA1D
31 11.36 CACNB2 CACNA1D CACNA1C
32
Show member pathways
11.1 SCN5A KCNQ1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
33 11.03 CACNA1D CACNA1C
34
Show member pathways
10.98 CACNA1D CACNA1C
35 10.94 KCNQ1 KCNJ2
36 10.73 CACNA1D CACNA1C

GO Terms for Brugada Syndrome 4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.32 STIM1 SRC SCN5A KCNQ1 KCNJ2 KCNH2
2 integral component of membrane GO:0016021 10.21 STIM1 SCN5A KCNQ1 KCNJ2 KCNH2 CAV1
3 plasma membrane GO:0005886 10.1 STIM1 SRC SCN5A KCNQ1 KCNJ2 KCNH2
4 integral component of plasma membrane GO:0005887 9.91 STIM1 KCNJ2 KCNH2 CAV1 CACNB2 CACNA1C
5 perinuclear region of cytoplasm GO:0048471 9.89 SRC SCN5A KCNH2 CDKN3 CAV1
6 Z disc GO:0030018 9.69 SCN5A CACNA1D CACNA1C
7 voltage-gated potassium channel complex GO:0008076 9.63 KCNQ1 KCNJ2 KCNH2
8 sarcolemma GO:0042383 9.62 SCN5A CAV1 CACNB2 CACNA1C
9 caveola GO:0005901 9.58 SRC SCN5A CAV1
10 T-tubule GO:0030315 9.46 SCN5A KCNJ2 CACNA2D1 CACNA1C
11 L-type voltage-gated calcium channel complex GO:1990454 9.26 CACNB2 CACNA2D1 CACNA1D CACNA1C
12 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 45)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 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 9.87 KCNQ1 KCNJ2 KCNH2
5 potassium ion transmembrane transport GO:0071805 9.87 KCNQ1 KCNJ2 KCNH2
6 calcium ion transport GO:0006816 9.86 STIM1 CAV1 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1
7 regulation of insulin secretion GO:0050796 9.82 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 9.8 SCN5A KCNQ1 KCNH2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.78 SCN5A KCNQ1 KCNH2 CACNA2D1
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 SCN5A KCNJ2 CACNA2D1 CACNA1D CACNA1C
12 calcium ion import GO:0070509 9.76 CACNB2 CACNA1D CACNA1C
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 membrane depolarization GO:0051899 9.69 SCN5A CAV1
21 cellular response to peptide hormone stimulus GO:0071375 9.69 SRC CAV1
22 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.69 SCN5A KCNQ1 CACNA1D
23 regulation of potassium ion transmembrane transport GO:1901379 9.68 KCNH2 CACNA1D
24 negative regulation of anoikis GO:2000811 9.68 SRC CAV1
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 regulation of cardiac muscle cell contraction GO:0086004 9.67 SCN5A KCNJ2
29 membrane depolarization during AV node cell action potential GO:0086045 9.67 SCN5A CACNB2 CACNA1C
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 9.66 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 atrial cardiac muscle cell action potential GO:0086014 9.65 SCN5A KCNQ1
35 cardiac conduction GO:0061337 9.65 SCN5A KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D4
36 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.64 CACNB2 CACNA2D1
37 membrane depolarization during SA node cell action potential GO:0086046 9.63 SCN5A CACNA1D
38 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.63 SCN5A CACNB2 CACNA1C
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 9.61 SCN5A CACNA2D1
43 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.6 CACNA2D1 CACNA1C
44 angiotensin-activated signaling pathway involved in heart process GO:0086098 9.59 SRC CAV1
45 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 16)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.83 SCN5A KCNQ1 KCNH2 CACNA1D CACNA1C
2 ion channel binding GO:0044325 9.76 SRC SCN5A KCNQ1 CAV1
3 calcium channel activity GO:0005262 9.73 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
4 scaffold protein binding GO:0097110 9.71 SRC SCN5A KCNQ1 KCNH2
5 ankyrin binding GO:0030506 9.56 SCN5A CACNA1D
6 inward rectifier potassium channel activity GO:0005242 9.55 KCNJ2 KCNH2
7 alpha-actinin binding GO:0051393 9.54 CACNA1D CACNA1C
8 high voltage-gated calcium channel activity GO:0008331 9.54 CACNB2 CACNA1D CACNA1C
9 nitric-oxide synthase binding GO:0050998 9.52 SCN5A CAV1
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.51 KCNQ1 KCNH2
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNQ1 KCNJ2 KCNH2
12 voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels GO:0099635 9.49 CACNB2 CACNA1D
13 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.48 CACNB2 CACNA1C
14 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.46 CACNB2 CACNA2D1 CACNA1D CACNA1C
15 voltage-gated calcium channel activity GO:0005245 9.43 CACNB2 CACNA2D4 CACNA2D2 CACNA2D1 CACNA1D CACNA1C
16 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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