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GENE - TERM ANNOTATION REPORT

RGD ID: 11311
Species: Mus musculus
RGD Object: Gene
Symbol: Slc4a2
Name: solute carrier family 4 (anion exchanger), member 2
Acc ID: DOID:2843
Term: long QT syndrome
Definition: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Long_QT_syndrome "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)
Slc4a2 ISOSLC4A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Long QT syndromePMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532
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