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    Ryr3 ryanodine receptor 3 [ Mus musculus (house mouse) ]

    Gene ID: 20192, updated on 4-Jan-2025

    Summary

    Official Symbol
    Ryr3provided by MGI
    Official Full Name
    ryanodine receptor 3provided by MGI
    Primary source
    MGI:MGI:99684
    See related
    Ensembl:ENSMUSG00000057378 AllianceGenome:MGI:99684
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RYR-3; C230090H21
    Summary
    Enables ryanodine-sensitive calcium-release channel activity. Acts upstream of or within intracellular calcium ion homeostasis and striated muscle contraction. Located in sarcoplasmic reticulum membrane. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; central nervous system; diaphragm; hemolymphoid system; and musculature. Human ortholog(s) of this gene implicated in congenital myopathy 20 and hepatocellular carcinoma. Orthologous to human RYR3 (ryanodine receptor 3). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in CNS E18 (RPKM 3.5), bladder adult (RPKM 2.8) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ryr3 in Genome Data Viewer
    Location:
    2 E3- E4; 2 57.2 cM
    Exon count:
    106
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (112461699..113047755, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (112631354..113217405, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11150 Neighboring gene STARR-positive B cell enhancer ABC_E4487 Neighboring gene STARR-seq mESC enhancer starr_05388 Neighboring gene predicted gene, 22676 Neighboring gene ER membrane protein complex subunit 7 Neighboring gene cholinergic receptor, muscarinic 5 Neighboring gene STARR-positive B cell enhancer mm9_chr2:112443695-112443995 Neighboring gene apoptosis, caspase activation inhibitor Neighboring gene STARR-seq mESC enhancer starr_05389 Neighboring gene STARR-seq mESC enhancer starr_05390 Neighboring gene STARR-seq mESC enhancer starr_05392 Neighboring gene STARR-seq mESC enhancer starr_05393 Neighboring gene STARR-seq mESC enhancer starr_05394 Neighboring gene STARR-seq mESC enhancer starr_05395 Neighboring gene STARR-seq mESC enhancer starr_05396 Neighboring gene predicted gene, 26505 Neighboring gene transmembrane and coiled-coil domains 5B Neighboring gene STARR-seq mESC enhancer starr_05397 Neighboring gene STARR-seq mESC enhancer starr_05399 Neighboring gene formin 1 Neighboring gene STARR-seq mESC enhancer starr_05401 Neighboring gene predicted gene, 54142

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport  
    involved_in calcium ion transport  
    involved_in calcium-mediated signaling  
    involved_in cellular response to ATP  
    involved_in cellular response to caffeine  
    involved_in cellular response to calcium ion  
    involved_in cellular response to magnesium ion  
    acts_upstream_of_or_within intracellular calcium ion homeostasis PubMed 
    involved_in negative regulation of cytosolic calcium ion concentration  
    involved_in protein homotetramerization  
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  
    involved_in striated muscle contraction  
    acts_upstream_of_or_within striated muscle contraction PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc  
    part_of calcium channel complex  
    located_in cytoplasmic side of plasma membrane  
    part_of junctional membrane complex PubMed 
    located_in membrane  
    located_in perinuclear region of cytoplasm  
    is_active_in sarcolemma  
    is_active_in sarcoplasmic reticulum membrane  
    located_in sarcoplasmic reticulum membrane PubMed 
    is_active_in smooth endoplasmic reticulum  

    General protein information

    Preferred Names
    ryanodine receptor 3
    Names
    brain ryanodine receptor-calcium release channel
    brain-type ryanodine receptor
    calcium release channel
    type 3 ryanodine receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001319156.1NP_001306085.1  ryanodine receptor 3

      Status: VALIDATED

      Source sequence(s)
      AI851294, AK082701, AL672250, AL691423, AL732316, CJ060048
      Consensus CDS
      CCDS50661.2
      UniProtKB/TrEMBL
      A0A140LJF7, A0A140LJK7
      Related
      ENSMUSP00000147250.2, ENSMUST00000208290.2
      Conserved Domains (12) summary
      smart00472
      Location:275368
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:641792
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:46194779
      Ion_trans; Ion transport protein
      pfam01365
      Location:442621
      RYDR_ITPR; RIH domain
      pfam02026
      Location:849937
      RyR; RyR domain
      pfam02815
      Location:216397
      MIR; MIR domain
      pfam06459
      Location:42324502
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37293842
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39333981
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:13241462
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:10207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      112461699..113047755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017316702.3XP_017172191.1  ryanodine receptor 3 isoform X2

      UniProtKB/TrEMBL
      A0A140LJF7
      Conserved Domains (11) summary
      cd12877
      Location:667818
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10991231
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      cd12879
      Location:13511489
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:46414801
      Ion_trans; Ion transport protein
      pfam01365
      Location:451632
      RYDR_ITPR; RIH domain
      pfam02026
      Location:875963
      RyR; RyR domain
      pfam02815
      Location:227408
      MIR; MIR domain
      pfam06459
      Location:42544524
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37513864
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39554003
      EF-hand_8; EF-hand domain pair
      cl19745
      Location:14218
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. XM_017316700.3XP_017172189.1  ryanodine receptor 3 isoform X1

      UniProtKB/TrEMBL
      A0A140LJF7
      Conserved Domains (11) summary
      cd12877
      Location:667818
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10991231
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      cd12879
      Location:13511489
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:46464806
      Ion_trans; Ion transport protein
      pfam01365
      Location:451632
      RYDR_ITPR; RIH domain
      pfam02026
      Location:875963
      RyR; RyR domain
      pfam02815
      Location:227408
      MIR; MIR domain
      pfam06459
      Location:42594529
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37563869
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39604008
      EF-hand_8; EF-hand domain pair
      cl19745
      Location:14218
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. XM_017316705.3XP_017172194.1  ryanodine receptor 3 isoform X3

      UniProtKB/Swiss-Prot
      A2AGL3, P70184, P70185, Q3V1H0, Q4JFC4, Q60836, Q62175, Q62198, Q9QY91
      UniProtKB/TrEMBL
      A0A140LJF7
      Related
      ENSMUSP00000079503.6, ENSMUST00000080673.13
      Conserved Domains (11) summary
      cd12877
      Location:641792
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      cd12879
      Location:13241462
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:46144774
      Ion_trans; Ion transport protein
      pfam01365
      Location:440621
      RYDR_ITPR; RIH domain
      pfam02026
      Location:849937
      RyR; RyR domain
      pfam02815
      Location:216397
      MIR; MIR domain
      pfam06459
      Location:42274497
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37243837
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39283976
      EF-hand_8; EF-hand domain pair
      cl19745
      Location:14207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    4. XM_017316709.3XP_017172198.1  ryanodine receptor 3 isoform X4

      Conserved Domains (7) summary
      cd12877
      Location:667818
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10991231
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      cd12879
      Location:13511489
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam01365
      Location:451632
      RYDR_ITPR; RIH domain
      pfam02026
      Location:875963
      RyR; RyR domain
      pfam02815
      Location:227408
      MIR; MIR domain
      cl19745
      Location:14218
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RNA

    1. XR_004939164.1 RNA Sequence

    2. XR_004939166.1 RNA Sequence

    3. XR_003951556.2 RNA Sequence

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