ryanodine receptor 2

Summary
Gene Symbol
  • RYR2
Organism
Homo sapiens (human)
NCBI Gene
6262
PubChem
6262
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Calcium channel
  • Calmodulin-binding
  • Cardiomyopathy
  • Coiled coil
  • Developmental protein
  • Disease variant
  • Ligand-gated ion channel
  • Phosphoprotein
  • Receptor
  • Reference proteome
  • Repeat
  • Sarcoplasmic reticulum
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q92736
  • Cardiac muscle ryanodine receptor
  • Cardiac muscle ryanodine receptor-calcium release channel
  • Type 2 ryanodine receptor
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
E3 ubiquitin-protein ligase
Functional Category
  • E: Amino acid transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1
DOID:10591 pre-eclampsia
DOID:114 heart disease
DOID:11714 gestational diabetes
DOID:1574 alcohol use disorder
DOID:3529 congenital myopathy 1A
DOID:6000 congestive heart failure
DOID:6432 pulmonary hypertension
DOID:8545 malignant hyperthermia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024