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Ryr3 Gene Detail
Summary
  • Symbol
    Ryr3
  • Name
    ryanodine receptor 3
  • Synonyms
    calcium release channel isoform 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:99684
    NCBI Gene: 20192
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:112461700-113047441 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 57.20 cM, cytoband E5-F3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    14598 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99684
 protein coding gene Chr2:112461699-113047755 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026294
 protein coding gene Chr2:115083665-115691442 (-)
A/J MGP_AJ_G0026255
 protein coding gene Chr2:110372021-110955099 (-)
AKR/J MGP_AKRJ_G0026234
 protein coding gene Chr2:113476919-114062430 (-)
BALB/cJ MGP_BALBcJ_G0026268
 protein coding gene Chr2:110630463-111205626 (-)
C3H/HeJ MGP_C3HHeJ_G0026013
 protein coding gene Chr2:113888629-114472460 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026715
 protein coding gene Chr2:118897246-119508295 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024095
 protein coding gene Chr2:105606020-106148041 (-)
CAST/EiJ MGP_CASTEiJ_G0025476
 protein coding gene Chr2:114135915-114752062 (-)
CBA/J MGP_CBAJ_G0025990
 protein coding gene Chr2:123054698-123686781 (-)
DBA/2J MGP_DBA2J_G0026129
 protein coding gene Chr2:109831276-110434609 (-)
FVB/NJ MGP_FVBNJ_G0026091
 protein coding gene Chr2:108709809-109284097 (-)
LP/J MGP_LPJ_G0026230
 protein coding gene Chr2:115378547-115979387 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026110
 protein coding gene Chr2:127434818-128064090 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026770
 protein coding gene Chr2:113537857-114124217 (-)
PWK/PhJ MGP_PWKPhJ_G0025212
 protein coding gene Chr2:109335073-109927487 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025011
 protein coding gene Chr2:112715947-113282939 (-)
WSB/EiJ MGP_WSBEiJ_G0025545
 protein coding gene Chr2:114353127-114938260 (-)



Homology
more
  • Human Ortholog
    RYR3, ryanodine receptor 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RYR3, ryanodine receptor 3
  • Synonyms
    CMYO20, CMYP20, RYR-3
  • Links
    NCBI Gene ID: 6263
    neXtProt AC: NX_Q15413
    UniProt: Q15413

  • Chr Location
    15q13.3-q14; chr15:33310962-33866121 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human RYR3 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 4 alleles in 5 genetic backgrounds
    35 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.
Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    32
  • GO References
    12
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
membraneless 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
    784
  • Tissues
    37
  • cDNA Data
    10
  • Literature Summary
    21
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000057378 Ensembl Gene Model | MGI Sequence Detail 585742 C57BL/6J ±  kb
transcript ENSMUST00000091818 Ensembl | MGI Sequence Detail 15410 Not Applicable  
polypeptide ENSMUSP00000089426 Ensembl | MGI Sequence Detail 4888 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 22
    Genomic 6
    cDNA 10
    Primer pair 6

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-16469, MGI:2139082
References
more
  • Summaries
    All 102
    Developmental Gene Expression 21
    Gene Ontology 12
    Phenotypes 35
  • 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:354224 Van Wauwe J, et al., PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates. Life Sci Alliance. 2024 Dec;7(12)
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
11/12/2024
MGI 6.24 		The Jackson Laboratory