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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 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 and Central Core Myopathy. Among its related pathways are Cardiac conduction and Cell-type Dependent Selectivity of CCK2R Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is RYR2.

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

Additional gene information for RYR3 Gene

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

Genomics for RYR3 Gene

GeneHancer (GH) Regulatory Elements for RYR3 Gene

Promoters and enhancers for RYR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I033310 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +0.1 102 0.2 CTCF MXI1 MAZ ZNF777 SUZ12 ZBTB8A ZFHX2 POLR2A KLF16 ZBTB26 RYR3 LOC101928134 GC15P033628
GH15I033311 Enhancer 0.5 FANTOM5 565.2 +1.0 1006 0.2 CTCF ZNF335 EZH2 RYR3 LOC101928134 FMN1 GC15P033628
GH15I033278 Enhancer 0.9 Ensembl ENCODE 11.5 -31.5 -31456 1.7 ZBTB6 JUN ZIC2 HIC1 FOSL1 GLIS2 PATZ1 FOSL2 FOS ZNF398 RYR3 ENSG00000212415 TMCO5B LOC101928134
GH15I033720 Enhancer 0.9 FANTOM5 Ensembl ENCODE 10.2 +411.0 411036 2.6 JUND JUN MYC SPI1 ENSG00000200008 GC15P033723 RYR3 LOC101928134 AVEN C1QBPP3
GH15I033357 Enhancer 0.5 FANTOM5 ENCODE 16.3 +47.6 47629 1.1 RYR3 LOC101928134 GC15P033628
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RYR3 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for RYR3 Gene

Genomic Locations for RYR3 Gene
chr15:33,310,783-33,866,121
(GRCh38/hg38)
Size:
555,339 bases
Orientation:
Plus strand
chr15:33,603,163-34,158,303
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for RYR3 Gene

Proteins for RYR3 Gene

  • 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 SELENON (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

Post-translational modifications for RYR3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RYR3 Gene

Domains & Families for RYR3 Gene

Gene Families for RYR3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.
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

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.

Phenotypes From GWAS Catalog for RYR3 Gene

Gene Ontology (GO) - Molecular Function for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005219 ryanodine-sensitive calcium-release channel activity IEA,TAS 19095005
GO:0005262 calcium channel activity IEA --
GO:0005319 lipid transporter activity IEA --
GO:0005509 calcium ion binding IEA,IBA --
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with RYR3: view
genes like me logo Genes that share phenotypes with RYR3: view

Animal Models for RYR3 Gene

MGI Knock Outs for RYR3:

Animal Model Products

CRISPR Products

miRNA for RYR3 Gene

miRTarBase miRNAs that target RYR3

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RYR3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,ISS --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IMP,IEA 9395096
GO:0006869 lipid transport IEA --
GO:0006874 cellular calcium ion homeostasis 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, antagonist 434
Dantrolene Approved, Investigational Pharma Antagonist, antagonist 6
calcium Approved Nutra 0
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0

(5) Additional Compounds for RYR3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

Drug Products

Transcripts for RYR3 Gene

Unigene Clusters for RYR3 Gene

Ryanodine receptor 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of RYR3 Gene:

RYR3

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.

Evidence on tissue expression from TISSUES for RYR3 Gene

  • Nervous system(4.7)
  • Muscle(4.6)
  • Blood(4.1)
  • Heart(2.5)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with RYR3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RYR3 33 34
  • 99.42 (n)
oppossum
(Monodelphis domestica)
Mammalia RYR3 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RYR3 33 34
  • 91.74 (n)
dog
(Canis familiaris)
Mammalia RYR3 33 34
  • 91.26 (n)
mouse
(Mus musculus)
Mammalia Ryr3 33 16 34
  • 89.91 (n)
rat
(Rattus norvegicus)
Mammalia Ryr3 33
  • 88.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves RYR3 33 34
  • 77.18 (n)
lizard
(Anolis carolinensis)
Reptilia RYR3 34
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1516 33
zebrafish
(Danio rerio)
Actinopterygii RYR3 (1 of 3) 34
  • 82 (a)
OneToMany
RYR3 (3 of 3) 34
  • 75 (a)
OneToMany
ryr3 33 34
  • 71.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rya-r44F 35
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-68 35
  • 39 (a)
Species where no ortholog for RYR3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1009308978 uncertain-significance, Epileptic encephalopathy 33,662,772(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10714306 benign, likely-benign, Epileptic encephalopathy 33,821,261(+) T/C/G genic_downstream_transcript_variant, intron_variant
rs112521485 benign, Epileptic encephalopathy 33,738,515(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113189230 benign, Epileptic encephalopathy 33,857,890(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs113699058 benign, Epileptic encephalopathy 33,696,500(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4456n54 CNV gain 21841781
dgv727e212 CNV loss 25503493
esv1126949 CNV deletion 17803354
esv1483241 CNV insertion 17803354
esv2660552 CNV deletion 23128226
esv28846 CNV loss 19812545
esv3310559 CNV novel sequence insertion 20981092
esv33337 CNV gain+loss 17666407
esv3395323 CNV insertion 20981092
esv34037 CNV loss 18971310
esv34041 CNV loss 18971310
esv3432365 CNV duplication 20981092
esv3569431 CNV gain 25503493
esv3581615 CNV loss 25503493
esv3581617 CNV loss 25503493
esv3581620 CNV loss 25503493
esv3581621 CNV loss 25503493
esv3636083 CNV loss 21293372
esv3636086 CNV loss 21293372
esv3636088 CNV loss 21293372
esv3636091 CNV loss 21293372
nsv1044844 CNV loss 25217958
nsv1052620 CNV gain 25217958
nsv1116064 CNV deletion 24896259
nsv1122949 CNV deletion 24896259
nsv1138352 CNV deletion 24896259
nsv1141934 OTHER inversion 24896259
nsv1160278 CNV deletion 26073780
nsv1483 CNV deletion 18451855
nsv1484 CNV insertion 18451855
nsv442369 CNV loss 18776908
nsv456788 CNV loss 19166990
nsv456789 CNV gain 19166990
nsv471235 CNV gain 18288195
nsv476213 CNV novel sequence insertion 20440878
nsv482914 CNV gain+loss 15286789
nsv498843 CNV loss 21111241
nsv509566 CNV insertion 20534489
nsv514777 CNV loss 21397061
nsv516051 CNV gain 19592680
nsv520023 CNV loss 19592680
nsv520848 CNV loss 19592680
nsv523361 CNV loss 19592680
nsv524568 CNV loss 19592680
nsv568919 CNV loss 21841781
nsv568920 CNV gain 21841781
nsv568921 CNV gain 21841781
nsv817682 CNV loss 17921354
nsv827289 CNV loss 20364138
nsv832963 CNV gain 17160897
nsv832964 CNV loss 17160897
nsv977860 CNV deletion 23825009

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)

Additional Variant Information for RYR3 Gene

Human Gene Mutation Database (HGMD)
RYR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RYR3

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

Disorders for RYR3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RYR3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia, familial, 2
  • arvd2
central core myopathy
  • central core disease
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search RYR3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RYR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MG (Genomics 1993) 2 3 4 22 58
  2. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S … Grunfeld C (AIDS (London, England) 2010) 3 22 44 58
  3. No association between the ryanodine receptor 3 gene and autism in a Japanese population. (PMID: 18588595) Tochigi M … Sasaki T (Psychiatry and clinical neurosciences 2008) 3 22 44 58
  4. Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex. (PMID: 12354756) Schwarzmann N … Guse AH (The Journal of biological chemistry 2002) 3 4 22 58
  5. cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene. (PMID: 9515741) Leeb T … Brenig B (FEBS letters 1998) 3 4 22 58

Products for RYR3 Gene

Sources for RYR3 Gene

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