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(52) : Gene trapped(27) Targeted(25)
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 in Mice Using Ryr2 (2)    Mutations Annotated to Human Diseases (8)    Phenotype Images(1)

Interactions

Ryr2 interacts with 399 markers (Mir7-1, Mir7-2, Mir7b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (112 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 Type	Results
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 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, 4P9I, 4P9L, 2MC2, 3IM5, 3IM6, 3IM7, 3QR5
Consensus CDS Project	CCDS49206.1
International Mouse Knockout Project Status	Ryr2

Sequences

Length	Strain/Species
genomic	ENSMUSG00000021313	Ensembl Gene Model | MGI Sequence Detail	553843	C57BL/6J
transcript	ENSMUST00000021750	Ensembl | MGI Sequence Detail	16813	Not Applicable
polypeptide	ENSMUSP00000021750	Ensembl | MGI Sequence Detail	4966	Not Applicable

All sequences(51) RefSeq(12) 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	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:215190 Liu Y, et al., Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor. PLoS One. 2014;9(4):e95615
All references(144)
Disease annotation references (6)

Other
accession IDs

MGD-MRK-16470, MGI:1924803