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Ryr2 Gene Detail
Summary
  • Symbol
    Ryr2
  • Name
    ryanodine receptor 2, cardiac
  • Synonyms
    9330127I20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:99685
    NCBI Gene: 20191
  • Gene Overview
    MyGene.info: RYR2
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:11553102-12106945 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 4.38 cM, cytoband A1-A2
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6567 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99685
 protein coding gene Chr13:11553099-12106945 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020227
 protein coding gene Chr13:8241263-8831778 (-)
A/J MGP_AJ_G0020183
 protein coding gene Chr13:8119535-8689447 (-)
AKR/J MGP_AKRJ_G0020158
 protein coding gene Chr13:8310291-8883305 (-)
BALB/cJ MGP_BALBcJ_G0020166
 protein coding gene Chr13:8111991-8667868 (-)
C3H/HeJ MGP_C3HHeJ_G0019970
 protein coding gene Chr13:8432177-9010881 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020613
 protein coding gene Chr13:8655293-9252011 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018220
 protein coding gene Chr13:7956591-8519381 (-)
CAST/EiJ MGP_CASTEiJ_G0019508
 protein coding gene Chr13:8102632-8703071 (-)
CBA/J MGP_CBAJ_G0019937
 protein coding gene Chr13:8907887-9506749 (-)
DBA/2J MGP_DBA2J_G0020054
 protein coding gene Chr13:7950023-8506651 (-)
FVB/NJ MGP_FVBNJ_G0020039
 protein coding gene Chr13:7750303-8315590 (-)
LP/J MGP_LPJ_G0020128
 protein coding gene Chr13:8351962-8946264 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020075
 protein coding gene Chr13:9220692-9806790 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020641
 protein coding gene Chr13:8193897-8768700 (-)
PWK/PhJ MGP_PWKPhJ_G0019271
 protein coding gene Chr13:7972752-8539835 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019078
 protein coding gene Chr13:8175183-8760046 (-)
WSB/EiJ MGP_WSBEiJ_G0019568
 protein coding gene Chr13:8133877-8728221 (-)



Homology
more
  • Human Ortholog
    RYR2, ryanodine receptor 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    RYR2, ryanodine receptor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARVC2, ARVD2, RyR, RYR-2, VTSIP
  • Links
    NCBI Gene ID: 6262
    neXtProt AC: NX_Q92736
    UniProt: Q92736

  • Chr Location
    1q43; chr1:237042208-237833988 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 37423
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: RYR2
  • Gene Tree
    Ryr2
Human Diseases
more
  • Diseases
    2 with Ryr2 mouse models; 2 with human RYR2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 10 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    78 phenotypes from 27 alleles in 24 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    99 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    127
  • GO References
    36
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    135
  • Tissues
    81
  • cDNA Data
    25
  • Literature Summary
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021313 Ensembl Gene Model | MGI Sequence Detail 553844 C57BL/6J ±  kb
    transcript ENSMUST00000021750 Ensembl | MGI Sequence Detail 16814 Not Applicable  
    polypeptide ENSMUSP00000021750 Ensembl | MGI Sequence Detail 4966 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 4
      cDNA 26
      Primer pair 7
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16470, MGI:1924803
    References
    more
    • Summaries
      All 224
      Developmental Gene Expression 30
      Diseases 8
      Gene Ontology 36
      Phenotypes 99
    • 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:271671 Okuda S, et al., CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca(2+) release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2018 Feb 19;496(4):1250-1256
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    06/04/2019
    MGI 6.14     		The Jackson Laboratory