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Ryr2
Gene Detail
Symbol

Name
ID
Ryr2
ryanodine receptor 2, cardiac
MGI:99685
Synonyms
9330127I20Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 13
4.38 cM, cytoband A1-A2
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr13:11553103-12106945 bp, - strand
From Ensembl annotation of GRCm38

  553843 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37423  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Ryr2

Human
homologs
Human Homolog RYR2, ryanodine receptor 2 (cardiac)
NCBI Gene ID 6262
neXtProt AC  NX_Q92736
Human Synonyms  ARVC2, ARVD2, RyR, RYR-2, VTSIP
Human Chr (Location)  1q43; chr1:237042210-237833988 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human RYR2
Mutations,
alleles, and
phenotypes
All mutations/alleles(50) : Gene trapped(27) Targeted(23)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.
 
Human Diseases Modeled Using Mouse Ryr2 (2)    Alleles Annotated to Human Diseases(8)    Phenotype Images(1)
Interactions
Ryr2 interacts with 399 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (110 annotations)
Process BMP signaling pathway, calcium ion transmembrane transport, ...
Component A band, calcium channel complex, ...
Function calcium channel activity, calcium-induced calcium release activity, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (86)    Tissues (57)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 41
Northern blot 4
Western blot 23
RT-PCR 18
cDNA source data(24)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(36) Genomic(4) cDNA(25) Primer pair(6) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021313 (Evidence)
Entrez Gene20191 (Evidence)
UniGene239871
DFCITC1589672, TC1596424, TC1597726, TC1599308, TC1612765, TC1623713
DoTSDT.101716086, DT.87068355, DT.91357923, DT.91427945, DT.94243888, DT.94292890
NIA Mouse Gene IndexU034507
PDB4ETV, 4KEI, 4KEJ, 4KEK, 4L4H, 4L4I, 2MC2, 3IM5, 3IM6, 3IM7, 3QR5
Consensus CDS ProjectCCDS49206.1
International Mouse Knockout Project StatusRyr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021313 Ensembl Gene Model | MGI Sequence Detail 553843 C57BL/6J ±  kb
transcript ENSMUST00000021750 Ensembl | MGI Sequence Detail 16813 Not Applicable 
polypeptide ENSMUSP00000021750 Ensembl | MGI Sequence Detail 4966 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(15) UniProt(9)
Polymorphisms
PCR(2) : SNPs within 2kb(6581 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001870 B30.2/SPRY domain
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
InterPro IPR000699 Intracellular calcium-release channel
InterPro IPR005821 Ion transport domain
InterPro IPR016093 MIR motif
InterPro IPR013333 Ryanodine receptor
InterPro IPR015925 Ryanodine receptor-related
InterPro IPR003032 Ryanodine receptor Ryr
InterPro IPR009460 Ryanodine Receptor TM 4-6
InterPro IPR013662 RyR/IP3R Homology associated domain
InterPro IPR003877 SPla/RYanodine receptor SPRY
Protein Ontology PR:000014378 ryanodine receptor 2
References
(Earliest) J:37396 Steck TL, The organization of proteins in the human red blood cell membrane. A review. J Cell Biol. 1974 Jul;62(1):1-19
(Latest) J:214180 Arnaiz-Cot JJ, et al., Cardiac calcium signalling pathologies associated with defective calmodulin regulation of type 2 ryanodine receptor. J Physiol. 2013 Sep 1;591(Pt 17):4287-99
All references(141)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-16470, MGI:1924803

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory