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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
Location & Maps
more
  • Sequence Map
    Chr13:11553103-12106945 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      553843 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 4.38 cM, cytoband A1-A2
  • Mapping Data
    6 experiments
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

  • Chr Location
    1q43; chr1:237042238-237833988 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 37423
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed
  • 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
       Arrhythmogenic Right Ventricular Dysplasia, Familial, 2; ARVD2   OMIM: 600996 View 1 model
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy; CPVT1   OMIM: 604772 View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 23 alleles in 21 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    74 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
    120
  • GO References
    34
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
    122
  • Tissues
    78
  • cDNA Data
    24
  • Literature Summary
    24
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
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  • SNPs within 2kb
    6567 from dbSNP Build 142
  • PCR
    2
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 36
    Genomic 4
    cDNA 25
    Primer pair 6
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-16470, MGI:1924803
References
more
  • Summaries
    All 169
    Developmental Gene Expression 24
    Diseases 8
    Gene Ontology 34
    Phenotypes 74
  • 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:231297 Furtado MB, et al., A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels. Differentiation. 2016 Jan-Mar;91(1-3):29-41
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory