Mus musculus Protein: Ryr2
Summary
InnateDB Protein IDBP-129563.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ryr2
Protein Name ryanodine receptor 2, cardiac
Synonyms 9330127I20Rik; RYR-2;
Species Mus musculus
Ensembl Protein ENSMUSP00000021750
InnateDB Gene IDBG-129559 (Ryr2)
Protein Structure
UniProt Annotation
Function Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. {ECO:0000269PubMed:10473538, ECO:0000269PubMed:20431056, ECO:0000269PubMed:21098440, ECO:0000269PubMed:9628868}.
Subcellular Localization Sarcoplasmic reticulum membrane {ECO:0000305PubMed:10473538}; Multi-pass membrane protein {ECO:0000305PubMed:10473538}. Membrane {ECO:0000305PubMed:10473538}; Multi-pass membrane protein {ECO:0000305PubMed:10473538}. Note=The number of predicted transmembrane domains varies between orthologs, but both N- terminus and C-terminus seem to be cytoplasmic. {ECO:0000250}.
Disease Associations
Tissue Specificity Highly expressed in heart, lung, cerebellum and brain. Detected at lower levels in adrenal gland, stomach, thymus, esophagus and ovary. {ECO:0000269PubMed:7621815, ECO:0000269PubMed:7876312}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 22 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 22 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005216 ion channel activity
GO:0005218 intracellular ligand-gated calcium channel activity
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005262 calcium channel activity
GO:0005488 binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015278 calcium-release channel activity
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0043924 suramin binding
GO:0048763 calcium-induced calcium release activity
Biological Process
GO:0001666 response to hypoxia
GO:0002027 regulation of heart rate
GO:0003143 embryonic heart tube morphogenesis
GO:0003220 left ventricular cardiac muscle tissue morphogenesis
GO:0003300 cardiac muscle hypertrophy
GO:0005513 detection of calcium ion
GO:0006355 regulation of transcription, DNA-templated
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0010460 positive regulation of heart rate
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0019722 calcium-mediated signaling
GO:0030509 BMP signaling pathway
GO:0031000 response to caffeine
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0051284 positive regulation of sequestering of calcium ion
GO:0051775 response to redox state
GO:0055085 transmembrane transport
GO:0055117 regulation of cardiac muscle contraction
GO:0060048 cardiac muscle contraction
GO:0060070 canonical Wnt signaling pathway
GO:0060401 cytosolic calcium ion transport
GO:0060402 calcium ion transport into cytosol
GO:0070588 calcium ion transmembrane transport
GO:0071313 cellular response to caffeine
GO:0072599 establishment of protein localization to endoplasmic reticulum
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:0086094 positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction
GO:0097050 type B pancreatic cell apoptotic process
GO:1901896 positive regulation of calcium-transporting ATPase activity
Cellular Component
GO:0005790 smooth endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0033017 sarcoplasmic reticulum membrane
GO:0034704 calcium channel complex
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID MGI:99685
InterPro IPR000699 RIH (RyR and IP3R Homology) domain
IPR001870 B30.2/SPRY domain
IPR002048 EF-hand domain
IPR003032 Ryanodine receptor Ryr
IPR003877 SPla/RYanodine receptor SPRY
IPR005821 Ion transport domain
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR009460 Ryanodine Receptor TM 4-6
IPR013333 Ryanodine receptor
IPR013662 RyR/IP3R Homology associated domain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
IPR016032 Signal transduction response regulator, C-terminal effector
IPR016093 MIR motif
IPR018355 SPla/RYanodine receptor subgroup
PFAM PF01365
PF00036
PF13202
PF13405
PF02026
PF00622
PF00520
PF06459
PF08454
PF08709
PF02815
PRINTS PR00795
PIRSF
SMART SM00054
SM00449
SM00472
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt E9Q401
PhosphoSite PhosphoSite-E9Q401
TrEMBL Q9CTT8
UniProt Splice Variant
Entrez Gene 20191
UniGene Mm.239871
RefSeq NP_076357
MGI ID 4L4I
MGI Symbol Ryr2
OMIM
CCDS CCDS49206
HPRD
IMGT
EMBL AB012003 AC131329 AC159208 AF295105 AK020368 CT010468 CT572985 D38217 X83933
GenPept AAG34081 BAA07392 BAA25137 BAB32083 CAA58785