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GENE - TERM ANNOTATION REPORT

RGD ID: 67385
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacnb2
Name: calcium voltage-gated channel auxiliary subunit beta 2
Acc ID: DOID:0110221
Term: Brugada syndrome 4
Definition: 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. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17224476 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cacnb2 ISOCACNB2 (Homo sapiens)7240710OMIM  
Cacnb2 ISOCACNB2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cacnb2 ISOCACNB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related conditionPMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 PMID:23874304 PMID:24033266 PMID:24055113 PMID:24752249 PMID:25467552 PMID:25637381 PMID:25650408 PMID:25741868 PMID:26220970 PMID:26230511 PMID:26636822 PMID:26707467 PMID:27650965 PMID:27662471 PMID:27711072 PMID:28341588 PMID:28492532 PMID:28600387 PMID:28704380 PMID:29016939 PMID:30027834 PMID:30415094 PMID:30847666 PMID:30975432 PMID:9536098
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