Aliases for RYR3 Gene
Aliases for RYR3 Gene
External Ids for RYR3 Gene
- HGNC: 10485
- Entrez Gene: 6263
- Ensembl: ENSG00000198838
- OMIM: 180903
- UniProtKB: Q15413
Previous GeneCards Identifiers for RYR3 Gene
- GC15P028845
- GC15P026310
- GC15P031182
- GC15P031319
- GC15P031390
- GC15P033603
- GC15P010464
Summaries 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.
Additional gene information for RYR3 Gene
- Monarch Initiative
- Search for RYR3 at DataMed
- Search for RYR3 at HumanCyc
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
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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- 15q13.3 by Ensembl
- 15q13.3-q14 by Entrez Gene
- 15q13.3-q14 by HGNC


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
- 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};
Protein Expression for RYR3 Gene
Post-translational modifications for RYR3 Gene
Other Protein References for RYR3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Assay Products
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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
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
Q15413UniProtKB/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.
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
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 | -- |
Phenotypes for RYR3 Gene
- MGI mutant phenotypes for RYR3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for RYR3:
-
- Mitotic spindle defects
- Increased vaccinia virus (VACV) infection
- Decreased ionizing radiation sensitivity
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased IL-8 secretion
- Downregulation of Wnt pathway after Wnt3A stimulation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Models for RYR3 Gene
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miRNA for RYR3 Gene
- miRTarBase miRNAs that target RYR3
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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}.
- Vesicles (2)
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 | -- |
Pathways & Interactions for RYR3 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
2 | Cardiac conduction |
.39
|
|
3 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
4 | Ion channel transport | ||
5 | Myometrial Relaxation and Contraction Pathways |
Pathways by source for RYR3 Gene
5 BioSystems pathways for RYR3 Gene
6 Reactome pathways for RYR3 Gene
6 KEGG pathways for RYR3 Gene
9 Qiagen pathways for RYR3 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for RYR3 Gene
Drugs & Compounds for RYR3 Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
(1) ApexBio Compounds for RYR3 Gene
Compound | Action | Cas Number |
---|---|---|
Chlorocresol | 59-50-7 |
Transcripts for RYR3 Gene
mRNA/cDNA for RYR3 Gene
- (13) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (46) Selected AceView cDNA sequences:
- (35) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
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Expression for RYR3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Megakaryocyte-Erythroid Precursor Cells Hematopoietic Bone Marrow
- Conventional Dendritic Cells II Spleen
- Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for RYR3 Gene
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:
RYR3SOURCE GeneReport for Unigene cluster for RYR3 Gene:
Hs.709373mRNA Expression by UniProt/SwissProt for RYR3 Gene:
Q15413-RYR3_HUMANEvidence on tissue expression from TISSUES for RYR3 Gene
- Nervous system(4.7)
- Muscle(4.6)
- Blood(4.1)
- Heart(2.5)
- Intestine(2.3)
Primer Products
-
OriGene qPCR primer pairs for RYR3
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RYR3 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RYR3 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | RYR3 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | RYR3 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Ryr3 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ryr3 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | RYR3 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | RYR3 34 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1516 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | RYR3 (1 of 3) 34 |
|
OneToMany | |
RYR3 (3 of 3) 34 |
|
OneToMany | |||
ryr3 33 34 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Rya-r44F 35 |
|
|
|
worm (Caenorhabditis elegans) |
Secernentea | unc-68 35 |
|
|
- 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)
Paralogs for RYR3 Gene
Variants 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 |
Additional Variant Information for RYR3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RYR3 Gene
Disorders for RYR3 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
arrhythmogenic right ventricular dysplasia, familial, 2 |
|
|
central core myopathy |
|
|
alzheimer disease |
|
|
Additional Disease Information for RYR3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for RYR3 Gene
Publications for RYR3 Gene
- 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
- 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
- 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
- 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
- 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
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Sources for RYR3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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