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RYR3 Gene(Protein Coding)

Ryanodine Receptor 3

GCID:
GC15P033310
GIFtS:
61
Genes Participants
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Aliases for RYR3 Gene

Aliases for RYR3 Gene

  • Ryanodine Receptor 3 2 3 5
  • Brain Ryanodine Receptor-Calcium Release Channel 3 4
  • Brain-Type Ryanodine Receptor 3 4
  • Type 3 Ryanodine Receptor 3 4
  • RYR-3 3 4
  • HBRR 4
  • RyR3 4

External Ids for RYR3 Gene

Previous GeneCards Identifiers for RYR3 Gene

  • GC15P028845
  • GC15P026310
  • GC15P031182
  • GC15P031319
  • GC15P031390
  • GC15P033603
  • GC15P010464

Summaries for RYR3 Gene

Entrez Gene Summary for RYR3 Gene

  • 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]

GeneCards Summary for RYR3 Gene

RYR3 (Ryanodine Receptor 3) is a Protein Coding gene. Diseases associated with RYR3 include Central Core Myopathy and Central Core Disease. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Ion channel transport. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is RYR1.

UniProtKB/Swiss-Prot for RYR3 Gene

  • Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling.

Gene Wiki entry for RYR3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RYR3 Gene

Genomics for RYR3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for RYR3 Gene

Enhancers for RYR3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RYR3 on UCSC Golden Path with GeneCards custom track

Promoters for RYR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RYR3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RYR3 gene promoter:

Genomic Location for RYR3 Gene

Chromosome:
15
Start:
33,310,783 bp from pter
End:
33,866,121 bp from pter
Size:
555,339 bases
Orientation:
Plus strand

Genomic View for RYR3 Gene

Genes around RYR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RYR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RYR3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RYR3 Gene

Proteins for RYR3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RYR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15413-RYR3_HUMAN
    Recommended name:
    Ryanodine receptor 3
    Protein Accession:
    Q15413
    Secondary Accessions:
    • O15175
    • Q15412

    Protein attributes for RYR3 Gene

    Size:
    4870 amino acids
    Molecular mass:
    552042 Da
    Quaternary structure:
    • Homotetramer. Heterotetramer with RYR2. Interacts with CALM (By similarity). Interacts with FKBP1A. Interacts with SEPN1 (By similarity).
    Miscellaneous:
    • Channel activity is modulated by the alkaloid ryanodine that binds to the open calcium-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by elevated cytoplasmic calcium levels in the micromolar range, by caffeine and adenine nucleotides, such as AMP and ATP. Inhibited by Mg(2+) and ruthenium red (By similarity).
    SequenceCaution:
    • Sequence=BAA23795.1; Type=Frameshift; Positions=742, 766; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RYR3 Gene

    Alternative splice isoforms for RYR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RYR3 Gene

Proteomics data for RYR3 Gene at MOPED

Protein Expression for RYR3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RYR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RYR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RYR3 Gene

Domains & Families for RYR3 Gene

Gene Families for RYR3 Gene

HGNC:
IUPHAR :

Protein Domains for RYR3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RYR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15413

UniProtKB/Swiss-Prot:

RYR3_HUMAN :
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily.
Domain:
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.
  • Contains 3 B30.2/SPRY domains.
  • Contains 5 MIR domains.
Family:
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily.
genes like me logo Genes that share domains with RYR3: view

Function for RYR3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for RYR3 Gene

GENATLAS Biochemistry:
ryanodine receptor 3 (calcium release channel),expressed in cardiac and neonatal skeletal muscle in aorta,esophagus,lung,with alternative spliced isoforms,and coexpressed with ITPR3 in neurons and in hippocampal CA1 pyramidal cell layer,in the caudale/putamen,olfactory bulb and olfactory tubercle,smooth muscle cells,involved in special form of hippocampal synaptic plasticity (for adaptation of acquired memory flexibility to environmental changes)
UniProtKB/Swiss-Prot Function:
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling.

Gene Ontology (GO) - Molecular Function for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0048763 calcium-induced calcium release activity IEA --
genes like me logo Genes that share ontologies with RYR3: view

Phenotypes for RYR3 Gene

MGI mutant phenotypes for RYR3:
inferred from 4 alleles
GenomeRNAi human phenotypes for RYR3:
genes like me logo Genes that share phenotypes with RYR3: view

Animal Models for RYR3 Gene

MGI Knock Outs for RYR3:

Animal Model Products

miRNA for RYR3 Gene

miRTarBase miRNAs that target RYR3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RYR3 Gene

Localization for RYR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RYR3 Gene

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein. Sarcoplasmic reticulum. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RYR3 Gene COMPARTMENTS Subcellular localization image for RYR3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RYR3: view

Pathways & Interactions for RYR3 Gene

genes like me logo Genes that share pathways with RYR3: view

Gene Ontology (GO) - Biological Process for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0051209 release of sequestered calcium ion into cytosol TAS 19095005
GO:0051289 protein homotetramerization ISS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with RYR3: view

No data available for SIGNOR curated interactions for RYR3 Gene

Drugs & Compounds for RYR3 Gene

Products:

  1. Drug

(12) Drugs for RYR3 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, antagonist 349
Dantrolene Approved Pharma Antagonist, antagonist 5
Ryanodine Pharma Channel blocker Ca2+ relase inhibitor 0
ruthenium red Pharma Channel blocker Non-selective Ca2+ channel blocker (N- and P-type) 0
ATP Pharma Agonist 0

(7) Additional Compounds for RYR3 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dantrolene, sodium salt
14663-23-1
JTV 519 fumarate
Suramin hexasodium salt
129-46-4

(5) Tocris Compounds for RYR3 Gene

Compound Action Cas Number
Dantrolene, sodium salt Ca2+ release inhibitor 14663-23-1
JTV 519 fumarate Ryanodine receptor (RyR) inhibitor
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Ryanodine Ca2+ relase inhibitor 15662-33-6
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(1) ApexBio Compounds for RYR3 Gene

Compound Action Cas Number
Chlorocresol 59-50-7
genes like me logo Genes that share compounds with RYR3: view

Transcripts for RYR3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for RYR3 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RYR3 Gene

Ryanodine receptor 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RYR3 Gene

No ASD Table

Relevant External Links for RYR3 Gene

GeneLoc Exon Structure for
RYR3
ECgene alternative splicing isoforms for
RYR3

Expression for RYR3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for RYR3 Gene

mRNA expression in normal human tissues for RYR3 Gene
mRNA expression by BioGPS for RYR3 GenemRNA expression by GTEx for RYR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RYR3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.1), Muscle - Skeletal (x5.0), and Brain - Caudate (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for RYR3 Gene

This gene is overexpressed in Heart (30.9), NK cells (13.2), Liver (12.5), and Lung (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RYR3 Gene



SOURCE GeneReport for Unigene cluster for RYR3 Gene Hs.709373

mRNA Expression by UniProt/SwissProt for RYR3 Gene

Q15413-RYR3_HUMAN
Tissue specificity: Brain, skeletal muscle, placenta and possibly liver and kidney. In brain, highest levels are found in the cerebellum, hippocampus, caudate nucleus and amygdala, with lower levels in the corpus callosum, substantia nigra and thalamus.
genes like me logo Genes that share expression patterns with RYR3: view

Primer Products

No data available for Protein tissue co-expression partners for RYR3 Gene

Orthologs for RYR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RYR3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia RYR3 35
  • 91.74 (n)
  • 96.52 (a)
RYR3 36
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia RYR3 35
  • 91.26 (n)
  • 96.28 (a)
RYR3 36
  • 96 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ryr3 35
  • 89.91 (n)
  • 96.25 (a)
Ryr3 16
Ryr3 36
  • 96 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia RYR3 35
  • 99.42 (n)
  • 99.69 (a)
RYR3 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ryr3 35
  • 88.32 (n)
  • 94.37 (a)
oppossum
(Monodelphis domestica)
 Mammalia RYR3 36
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 70 (a)
 OneToMany
-- 36
  • 78 (a)
 OneToMany
-- 36
  • 37 (a)
 OneToMany
-- 36
  • 65 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RYR3 35
  • 77.18 (n)
  • 87.5 (a)
RYR3 36
  • 88 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RYR3 36
  • 83 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1516 35
zebrafish
(Danio rerio)
 Actinopterygii ryr3 35
  • 71.84 (n)
  • 77.98 (a)
ryr3 36
  • 75 (a)
 OneToMany
RYR3 (1 of 3) 36
  • 82 (a)
 OneToMany
RYR3 (3 of 3) 36
  • 75 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Rya-r44F 37
  • 57 (a)
worm
(Caenorhabditis elegans)
 Secernentea unc-68 37
  • 39 (a)
Species with no ortholog for RYR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RYR3 Gene

ENSEMBL:
Gene Tree for RYR3 (if available)
TreeFam:
Gene Tree for RYR3 (if available)

Paralogs for RYR3 Gene

Paralogs for RYR3 Gene

(2) SIMAP similar genes for RYR3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RYR3: view

Variants for RYR3 Gene

Sequence variations from dbSNP and Humsavar for RYR3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_011404 -
rs2229116 - 33,613,209(+) CTTCC(A/G)TCAAC reference, missense
VAR_011406 -
VAR_024077 -
rs2077268 - 33,581,550(-) GTAGA(C/T)ATTTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RYR3 Gene

Variant ID Type Subtype PubMed ID
esv33337 CNV Gain+Loss 17666407
nsv903982 CNV Gain 21882294
nsv832963 CNV Gain 17160897
nsv832964 CNV Loss 17160897
esv1126949 CNV Deletion 17803354
esv34041 CNV Loss 18971310
esv34037 CNV Loss 18971310
esv271985 CNV Insertion 20981092
nsv482914 CNV Complex 15286789
esv28846 CNV Loss 19812545
nsv523361 CNV Loss 19592680
nsv456788 CNV Loss 19166990
nsv1483 CNV Loss 18451855
nsv827289 CNV Loss 20364138
nsv442369 CNV CNV 18776908
esv2660552 CNV Deletion 23128226
nsv498843 CNV Loss 21111241
nsv514777 CNV Loss 21397061
nsv520848 CNV Loss 19592680
nsv817682 CNV Loss 17921354
nsv524568 CNV Loss 19592680
nsv516051 CNV Gain 19592680
nsv509566 CNV Insertion 20534489
nsv1484 CNV Insertion 18451855
esv272798 CNV Insertion 20981092
esv271085 CNV Insertion 20981092
nsv456789 CNV Gain 19166990
nsv471235 CNV Gain 18288195
nsv520023 CNV Loss 19592680
esv1483241 CNV Insertion 17803354
esv2749545 CNV Deletion 23290073

Variation tolerance for RYR3 Gene

Residual Variation Intolerance Score: 0.379% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.68; 95.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RYR3 Gene

Human Gene Mutation Database (HGMD)
RYR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RYR3 Gene

Disorders for RYR3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RYR3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
central core myopathy
  • central core disease
central core disease
  • neuromuscular disease, congenital, with uniform type 1 fiber
- elite association - COSMIC cancer census association via MalaCards
Search RYR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RYR3

Genetic Association Database (GAD)
RYR3
Human Genome Epidemiology (HuGE) Navigator
RYR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RYR3
genes like me logo Genes that share disorders with RYR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RYR3 Gene

Publications for RYR3 Gene

  1. Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization. (PMID: 8276408) Sorrentino V. … Mattei M.-G. (Genomics 1993) 2 3 4 23 67
  2. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S. … Grunfeld C. (AIDS 2010) 3 23
  3. Association between statin-associated myopathy and skeletal muscle damage. (PMID: 19581603) Mohaupt M.G. … Draeger A. (CMAJ 2009) 3 23
  4. No association between the ryanodine receptor 3 gene and autism in a Japanese population. (PMID: 18588595) Tochigi M. … Sasaki T. (Psychiatry Clin. Neurosci. 2008) 3 23
  5. The 12 kDa FK506-binding protein, FKBP12, modulates the Ca(2+)-flux properties of the type-3 ryanodine receptor. (PMID: 14970260) Van Acker K. … Callewaert G. (J. Cell. Sci. 2004) 3 23

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