Free for academic non-profit institutions. Other users need a Commercial license
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]
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 Activation of cAMP-Dependent PKA 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH15J033312 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 615.1 | +0.4 | 361 | 1.5 | CTCF ZSCAN4 POLR2A EZH2 RAD21 ZBTB26 ZBTB17 ZFHX2 ZNF777 ZNF335 | RYR3 ENSG00000259446 LOC101928134 FMN1 HSALNG0104907 CHRM5 | |
GH15J033303 | Promoter | 0.3 | EPDnew | 600.4 | -7.6 | -7620 | 0.1 | RYR3 ENSG00000259446 HSALNG0104905 LOC101928134 FMN1 | ||
GH15J033440 | Enhancer | 0.6 | Ensembl | 25.2 | +131.9 | 131928 | 4.6 | SOX6 EP300 NFE2 MAFG RUNX1 TAL1 MEIS2 MTA2 MITF USF2 | RYR3 RF00017-1744 piR-59928-053 lnc-CHRM5-4 CHRM5 | |
GH15J033241 | Enhancer | 1 | Ensembl ENCODE CraniofacialAtlas | 11.2 | -67.3 | -67270 | 4.6 | CREB1 CTCF ATF7 ZNF629 POLR2A RAD21 SP1 ZNF639 RFX1 JUND | TMCO5B RYR3 lnc-FMN1-2 piR-61101-202 FMN1 | |
GH15J033451 | Enhancer | 0.4 | Ensembl ENCODE | 22.1 | +140.4 | 140372 | 1.1 | MNT | RYR3 RF00017-1744 piR-59928-053 lnc-CHRM5-4 CHRM5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005219 | ryanodine-sensitive calcium-release channel activity | IEA,TAS | 19095005 |
GO:0005262 | calcium channel activity | IEA | -- |
GO:0005509 | calcium ion binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005790 | smooth endoplasmic reticulum | IBA | 21873635 |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
2 | Cardiac conduction |
.39
|
|
3 | Parkinson disease | ||
4 | Ion channel transport | ||
5 | Myometrial Relaxation and Contraction Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA,IMP | 9395096 |
GO:0006874 | cellular calcium ion homeostasis | IEA | -- |
GO:0034220 | ion transmembrane transport | IEA,TAS | -- |
GO:0051209 | release of sequestered calcium ion into cytosol | IEA,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Caffeine | Approved | Pharma | Antagonist, Activator, antagonist | 603 | ||
Dantrolene | Approved, Investigational | Pharma | Antagonist, antagonist | 10 | ||
Calcium citrate | Approved, Investigational | Pharma | Transporter, substrate | 0 | ||
Calcium Phosphate | Approved | Pharma | Transporter, substrate | 0 | ||
Calcium phosphate dihydrate | Approved | Pharma | Transporter | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Chlorocresol | 59-50-7 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RYR3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RYR3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RYR3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RYR3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ryr3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ryr3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | RYR3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RYR3 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1516 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | RYR3 (1 of 3) 31 |
|
OneToMany | |
RYR3 (3 of 3) 31 |
|
OneToMany | |||
ryr3 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rya-r44F 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | unc-68 32 |
|
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
461977 | Benign: Epileptic encephalopathy | 33,772,100(+) | CA/TG | MISSENSE_VARIANT | |
638897 | Uncertain Significance: Epileptic encephalopathy | 33,726,489(+) | T/G | MISSENSE_VARIANT | |
639263 | Uncertain Significance: Epileptic encephalopathy | 33,543,672(+) | T/C | MISSENSE_VARIANT | |
639578 | Uncertain Significance: Epileptic encephalopathy | 33,731,499(+) | C/T | MISSENSE_VARIANT | |
639649 | Uncertain Significance: Epileptic encephalopathy | 33,579,998(+) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
central core myopathy |
|
|
neuroleptic malignant syndrome |
|
|
capillary malformations, congenital |
|
|
arrhythmogenic right ventricular dysplasia, familial, 2 |
|
|
congenital structural myopathy |
|
|