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 NCBI 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 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

Alleles and phenotypes

All alleles(45) : Targeted(18) Gene trapped(27)
 

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(4)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (107 annotations)

Process	BMP signaling pathway, calcium ion transmembrane transport, ...
Component	A band, calcium channel complex, ...
Function	binding, calcium channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (19 records)

Data Summary: Results (86)    Tissues (54)    Images (13)
Theiler Stages: 7, 9, 11, 13, 15, 17, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	41
Northern blot	4
Western blot	23
RT-PCR	18

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) Genomic(4) cDNA(25) Primer pair(6) Other(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000021313 (Evidence)
Entrez Gene	20191 (Evidence)
UniGene	239871
DFCI	TC1589672, TC1596424, TC1597726, TC1599308, TC1612765, TC1623713
DoTS	DT.101716086, DT.87068355, DT.91357923, DT.91427945, DT.94243888, DT.94292890
NIA Mouse Gene Index	U034507
PDB	4ETV, 4KEI, 4KEJ, 4KEK, 4L4H, 4L4I, 2MC2, 3IM5, 3IM6, 3IM7, 3QR5
Consensus CDS Project	CCDS49206.1
International Mouse Knockout Project Status	Ryr2

Sequences

Length	Strain/Species
genomic	20191	NCBI Gene Model | MGI Sequence Detail	553843	C57BL/6J
transcript	NM_023868	RefSeq | MGI Sequence Detail	16813	C57BL/6
polypeptide	E9Q401	UniProt | EBI | MGI Sequence Detail	4966	Not Applicable

All sequences(54) RefSeq(15) UniProt(5)

Polymorphisms

PCR(2) : SNPs within 2kb(6581 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR001870	B30.2/SPRY domain
InterPro	IPR008985	Concanavalin A-like lectin/glucanases superfamily
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
InterPro	IPR018355	SPla/RYanodine receptor subgroup
Protein Ontology	PR:000014378	ryanodine receptor 2

Graphical View of Protein Domain Structure

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:200958 Yamaguchi N, et al., Cardiac hypertrophy associated with impaired regulation of cardiac ryanodine receptor by calmodulin and S100A1. Am J Physiol Heart Circ Physiol. 2013 Jul 1;305(1):H86-94
All references(127)

Other accession IDs

MGD-MRK-16470, MGI:1924803