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GENE - TERM ANNOTATION REPORT

RGD ID: 12695208
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Kcnj2
Name: potassium inwardly rectifying channel subfamily J member 2
Acc ID: DOID:1029
Term: familial periodic paralysis
Definition: A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)
Definition Source(s): https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html "DO" "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page "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)
Kcnj2 ISOKCNJ2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial periodic paralysisPMID:17324964 PMID:19201608 PMID:22581653
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