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Aliases for RYR3 Gene

Aliases for RYR3 Gene

  • Ryanodine Receptor 3 2 3
  • 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

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 neuroleptic malignant syndrome. Among its related pathways are CREB Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calcium ion binding and calcium-release channel activity. 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

Genomic Location for RYR3 Gene

Start:
33,310,962 bp from pter
End:
33,866,102 bp from pter
Size:
555,141 bases
Orientation:
Plus strand

Genomic View for RYR3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RYR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RYR3 Gene

Regulatory Elements 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.
    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

Post-translational modifications for RYR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RYR3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RYR3 Gene

Domains for RYR3 Gene

Gene Families for RYR3 Gene

HGNC:
  • EFHAND :EF-hand domain containing
  • RYR :Ion channels / Ryanodine receptors
IUPHAR :

UniProtKB/Swiss-Prot:

RYR3_HUMAN
Domain:
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.:
    • Q15413
  • Contains 3 B30.2/SPRY domains.:
    • Q15413
  • Contains 5 MIR domains.:
    • Q15413
Family:
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily.:
    • Q15413
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.

Gene Ontology (GO) - Molecular Function for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005219 ryanodine-sensitive calcium-release channel activity TAS 19095005
GO:0005262 calcium channel activity --
GO:0005488 binding --
GO:0005509 calcium ion 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:

miRNA for RYR3 Gene

miRTarBase miRNAs that target RYR3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. 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
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RYR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0016020 membrane --
GO:0016021 integral component of membrane ISS --
GO:0030314 junctional membrane complex IEA --
GO:0033017 sarcoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with RYR3: view

Pathways 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:0006811 ion transport --
GO:0006816 calcium ion transport IMP 9395096
GO:0006874 cellular calcium ion homeostasis --
GO:0006941 striated muscle contraction IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with RYR3: view

Compounds for RYR3 Gene

(2) HMDB Compounds for RYR3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(7) IUPHAR Ligand for RYR3 Gene

Ligand Type Action Affinity Pubmed IDs
ATP Activator None
ryanodine Activator None
Ca2+ Antagonist Antagonist
ruthenium red Channel blocker None
Mg2+ Antagonist Antagonist
dantrolene Antagonist Antagonist
caffeine Activator None

(9) Novoseek inferred chemical compound relationships for RYR3 Gene

Compound -log(P) Hits PubMed IDs
ryanodine 92.5 66
4-chloro-m-cresol 83.7 9
cyclic adp-ribose 73.1 4
inositol 1,4,5 trisphosphate 72.4 1
caffeine 69.1 6
genes like me logo Genes that share compounds with RYR3: view

Transcripts for RYR3 Gene

mRNA/cDNA for RYR3 Gene

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

Unigene Clusters for RYR3 Gene

Ryanodine receptor 3:
Representative Sequences:

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 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) (5.1), Muscle - Skeletal (5.0), and Brain - Caudate (basal ganglia) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB 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 expressions with RYR3: view

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 36
  • 99.42 (n)
  • 99.69 (a)
RYR3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RYR3 36
  • 91.74 (n)
  • 96.52 (a)
RYR3 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RYR3 36
  • 91.26 (n)
  • 96.28 (a)
RYR3 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ryr3 36
  • 89.91 (n)
  • 96.25 (a)
Ryr3 16
Ryr3 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RYR3 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
-- 37
  • 37 (a)
OneToMany
-- 37
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ryr3 36
  • 88.32 (n)
  • 94.37 (a)
chicken
(Gallus gallus)
Aves RYR3 36
  • 77.18 (n)
  • 87.5 (a)
RYR3 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RYR3 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1516 36
zebrafish
(Danio rerio)
Actinopterygii ryr3 36
  • 71.84 (n)
  • 77.98 (a)
ryr3 37
  • 75 (a)
OneToMany
RYR3 (1 of 3) 37
  • 82 (a)
OneToMany
RYR3 (3 of 3) 37
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rya-r44F 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-68 38
  • 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

Selected 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 MAF
rs17098 -- 33,407,755(-) TAGAG(A/G)TGCCT intron-variant
rs581954 -- 33,581,168(-) GTGGT(G/T)CTGAC intron-variant
rs583413 -- 33,593,320(-) gaaac(C/T)tgaga intron-variant
rs583420 -- 33,593,311(-) gacca(A/G)agact intron-variant
rs584877 -- 33,592,952(-) attga(C/T)gtccc intron-variant

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

Relevant External Links for RYR3 Gene

HapMap Linkage Disequilibrium report
RYR3
Human Gene Mutation Database (HGMD)
RYR3

Disorders for RYR3 Gene

(2) University of Copenhagen DISEASES for RYR3 Gene

Relevant External Links for RYR3

Genetic Association Database (GAD)
RYR3
Human Genome Epidemiology (HuGE) Navigator
RYR3
genes like me logo Genes that share disorders with RYR3: view

No data available for UniProtKB/Swiss-Prot 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
  2. Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle. (PMID: 7556644) Lynn S. … Gillespie J.I. (FEBS Lett. 1995) 3 4 23
  3. 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 Lett. 1998) 3 4 23
  4. Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum. (PMID: 9607712) Martin C. … Ashley R.H. (Neuroscience 1998) 3 4 23
  5. Molecular cloning and characterization of a human brain ryanodine receptor. (PMID: 9395096) Nakashima Y. … Kita T. (FEBS Lett. 1997) 3 4 23

Products for RYR3 Gene

Sources for RYR3 Gene

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