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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
  • Alliance
  • Transcription Start Sites
    56 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:11567988-12121831 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • 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
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99685
protein coding gene Chr13:11567985-12121831 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RYR2, ryanodine receptor 2
  • Synonyms
    ARVC2, ARVD2, RyR, RYR-2, VACRDS, VTSIP
  • Links
    NCBI Gene ID: 6262
    neXtProt AC: NX_Q92736
    UniProt: Q92736

  • Chr Location
    1q43; chr1:237042184-237833988 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with Ryr2 mouse models; 2 with human RYR2 associations

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

  • Mutations/Alleles
    10 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 28 alleles in 24 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    136 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
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  • All GO Annotations
  • GO References
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • 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 40
      Genomic 4
      cDNA 26
      Primer pair 9
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16470, MGI:1924803
    References
    more
    • Summaries
      All 286
      Developmental Gene Expression 42
      Diseases 9
      Gene Ontology 36
      Phenotypes 136
    • 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:343249 Wegener JW, et al., A dual-targeted drug inhibits cardiac ryanodine receptor Ca(2+) leak but activates SERCA2a Ca(2+) uptake. Life Sci Alliance. 2024 Feb;7(2)

    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)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory