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    RYR3 ryanodine receptor 3 [ Homo sapiens (human) ]

    Gene ID: 6263, updated on 10-Dec-2024

    Summary

    Official Symbol
    RYR3provided by HGNC
    Official Full Name
    ryanodine receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:10485
    See related
    Ensembl:ENSG00000198838 MIM:180903; AllianceGenome:HGNC:10485
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RYR-3; CMYO20; CMYP20
    Summary
    The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in brain (RPKM 1.5), endometrium (RPKM 1.4) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RYR3 in Genome Data Viewer
    Location:
    15q13.3-q14
    Exon count:
    107
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (33310967..33866102)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (31107439..31663747)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33603168..34158303)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33530426-33530595 Neighboring gene transmembrane and coiled-coil domains 5B (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603389-33603900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603901-33604410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6271 Neighboring gene NANOG hESC enhancer GRCh37_chr15:33620309-33620820 Neighboring gene RYR3 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:33837506-33838705 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33851407-33852197 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:33904937-33905438 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33924098-33924317 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:34012814-34014013 Neighboring gene NANOG hESC enhancer GRCh37_chr15:34030252-34030792 Neighboring gene complement C1q binding protein pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34050593-34051255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34208100-34208650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6272 Neighboring gene apoptosis and caspase activation inhibitor Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34277417-34277940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34280047-34280546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34314668-34315168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34315169-34315669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6276 Neighboring gene cholinergic receptor muscarinic 5 Neighboring gene MPRA-validated peak2290 silencer Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene ER membrane protein complex subunit 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital myopathy 20
    MedGen: C5830393 OMIM: 620310 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study of carotid atherosclerosis in HIV-infected men.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM PubMed
    tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed
    tat RYR3 gene regulated by HIV-1 Tat is associated with common and internal carotid intima-media thicknesses (cIMT) in HARRT-treated HIV-infected persons PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-induced calcium release activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables intracellularly gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ryanodine-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ATP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to magnesium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in striated muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sarcoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in smooth endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    Genomic

    1. NG_047076.1 RefSeqGene

      Range
      5185..560320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001036.6NP_001027.3  ryanodine receptor 3 isoform 1

      See identical proteins and their annotated locations for NP_001027.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010809, AC011938, AC055874, AC067793, AC087638
      Consensus CDS
      CCDS45210.1
      UniProtKB/Swiss-Prot
      O15175, Q15412, Q15413
      UniProtKB/TrEMBL
      A0A0X1KG73
      Related
      ENSP00000489262.1, ENST00000634891.2
      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:46214781
      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:42344504
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37313844
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39353983
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:13241462
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:12207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. NM_001243996.4NP_001230925.1  ryanodine receptor 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB001025, AC011938, AC087638, AJ001515
      Consensus CDS
      CCDS58351.1
      UniProtKB/TrEMBL
      A0A0X1KG73
      Related
      ENSP00000399610.3, ENST00000415757.7
      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:46164776
      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:42294499
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37263839
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39303978
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:13241462
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:12207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      33310967..33866102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432931.1XP_047288887.1  ryanodine receptor 3 isoform X10

      UniProtKB/TrEMBL
      A0A0X1KG73
    2. XM_017022468.2XP_016877957.1  ryanodine receptor 3 isoform X1

      UniProtKB/TrEMBL
      A0A0X1KG73
    3. XM_017022475.2XP_016877964.1  ryanodine receptor 3 isoform X11

      UniProtKB/TrEMBL
      A0A0X1KG73
    4. XM_017022473.2XP_016877962.1  ryanodine receptor 3 isoform X7

      UniProtKB/TrEMBL
      A0A0X1KG73
    5. XM_047432932.1XP_047288888.1  ryanodine receptor 3 isoform X12

      UniProtKB/TrEMBL
      A0A0X1KG73
    6. XM_017022469.2XP_016877958.1  ryanodine receptor 3 isoform X2

      UniProtKB/TrEMBL
      A0A0X1KG73
    7. XM_011521880.3XP_011520182.1  ryanodine receptor 3 isoform X8

      UniProtKB/TrEMBL
      A0A0U1RRH1, A0A0X1KG73
      Related
      ENSP00000489529.1, ENST00000634418.1
      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:46104770
      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:42234493
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37203833
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:39243972
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:13241462
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:12207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    8. XM_017022472.2XP_016877961.1  ryanodine receptor 3 isoform X5

      UniProtKB/TrEMBL
      A0A0X1KG73
    9. XM_017022471.2XP_016877960.1  ryanodine receptor 3 isoform X4

      UniProtKB/TrEMBL
      A0A0X1KG73
    10. XM_024450015.2XP_024305783.1  ryanodine receptor 3 isoform X6

      UniProtKB/TrEMBL
      A0A0X1KG73
      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:13181461
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:46154775
      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:42284498
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37253838
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:39223977
      EF-hand_7; EF-hand domain pair
      cl19745
      Location:12207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    11. XM_024450016.2XP_024305784.1  ryanodine receptor 3 isoform X16

      UniProtKB/TrEMBL
      A0A0X1KG73
      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:13181461
      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
      pfam13499
      Location:39213976
      EF-hand_7; EF-hand domain pair
      cl19745
      Location:12207
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    12. XM_017022476.2XP_016877965.1  ryanodine receptor 3 isoform X13

      UniProtKB/TrEMBL
      A0A0X1KG73
    13. XM_047432933.1XP_047288889.1  ryanodine receptor 3 isoform X14

      UniProtKB/TrEMBL
      A0A0X1KG73
    14. XM_017022477.2XP_016877966.1  ryanodine receptor 3 isoform X15

    15. XM_017022474.2XP_016877963.1  ryanodine receptor 3 isoform X9

      UniProtKB/TrEMBL
      A0A0X1KG73
    16. XM_017022470.3XP_016877959.1  ryanodine receptor 3 isoform X3

      UniProtKB/TrEMBL
      A0A0X1KG73

    RNA

    1. XR_001751370.2 RNA Sequence

    2. XR_001751371.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      31107439..31663747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378594.1XP_054234569.1  ryanodine receptor 3 isoform X10

      UniProtKB/TrEMBL
      A0A0X1KG73
    2. XM_054378586.1XP_054234561.1  ryanodine receptor 3 isoform X1

      UniProtKB/TrEMBL
      A0A0X1KG73
    3. XM_054378595.1XP_054234570.1  ryanodine receptor 3 isoform X11

      UniProtKB/TrEMBL
      A0A0X1KG73
    4. XM_054378592.1XP_054234567.1  ryanodine receptor 3 isoform X7

      UniProtKB/TrEMBL
      A0A0X1KG73
    5. XM_054378596.1XP_054234571.1  ryanodine receptor 3 isoform X12

      UniProtKB/TrEMBL
      A0A0X1KG73
    6. XM_054378587.1XP_054234562.1  ryanodine receptor 3 isoform X2

      UniProtKB/TrEMBL
      A0A0X1KG73
    7. XM_054378590.1XP_054234565.1  ryanodine receptor 3 isoform X5

      UniProtKB/TrEMBL
      A0A0X1KG73
    8. XM_054378588.1XP_054234563.1  ryanodine receptor 3 isoform X4

      UniProtKB/TrEMBL
      A0A0X1KG73
    9. XM_054378591.1XP_054234566.1  ryanodine receptor 3 isoform X6

      UniProtKB/TrEMBL
      A0A0X1KG73
    10. XM_054378600.1XP_054234575.1  ryanodine receptor 3 isoform X16

      UniProtKB/TrEMBL
      A0A0X1KG73
    11. XM_054378597.1XP_054234572.1  ryanodine receptor 3 isoform X13

      UniProtKB/TrEMBL
      A0A0X1KG73
    12. XM_054378598.1XP_054234573.1  ryanodine receptor 3 isoform X14

      UniProtKB/TrEMBL
      A0A0X1KG73
    13. XM_054378599.1XP_054234574.1  ryanodine receptor 3 isoform X15

    14. XM_054378593.1XP_054234568.1  ryanodine receptor 3 isoform X9

      UniProtKB/TrEMBL
      A0A0X1KG73
    15. XM_054378589.1XP_054234564.1  ryanodine receptor 3 isoform X3

      UniProtKB/TrEMBL
      A0A0X1KG73

    RNA

    1. XR_008489001.1 RNA Sequence

    2. XR_008489002.1 RNA Sequence