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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RYR3
ryanodine receptor 3
Chromosome 15 · 15q13.3-q14
NCBI Gene: 6263Ensembl: ENSG00000198838.15HGNC: HGNC:10485UniProt: A0A0U1RRH1
69PubMed Papers
21Diseases
2Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion transportintracellularly gated calcium channel activityZ discsarcoplasmic reticulum membranecongenital myopathy 20Fevermultiple sclerosisneurodegenerative disease
✦AI Summary

RYR3 is a large homotetrameric calcium-release channel located in the endoplasmic/sarcoplasmic reticulum membrane 1. It mediates calcium-induced calcium release (CICR) to regulate intracellular Ca2+ levels across diverse cell types 2. In skeletal muscle, RYR3 is upregulated during early development and contributes to muscle contraction 2. In the brain, RYR3 localizes to hippocampal dendritic spines where it regulates synaptic plasticity 2. RYR3 also controls myogenic tone in arteries and participates in mast cell activation via MRGPRX2-mediated calcium mobilization 3. Structurally, RYR3 exhibits a unique functional profile with high sensitivity to activating ligands and high open probability, along with reduced binding affinity to the auxiliary protein FKBP12.6 2. Disease associations include congenital myopathy 20, with RYR3 disease-causing mutations concentrated in cytoplasmic domains that alter channel sensitivity to Ca2+ activation 1. RYR3 variants are associated with hypertension, type 2 diabetes, and Alzheimer's disease risk, implicating altered calcium signaling in these conditions 4. Rare RYR3 mutations have been identified in gender dysphoria patients, though mechanistic links remain unclear 5. The N-terminal region contains ligand-binding sites for chloride and ATP, with variants linked to epileptic encephalopathy 2.

Sources cited
1
RyRs are large homotetrameric proteins with ~4/5 cytoplasmic and ~1/5 transmembrane/luminal mass; disease-causing mutations in cytoplasmic domains alter Ca2+ channel sensitivity
PMID: 16115682
2
RYR3 is found in endoplasmic reticulum of diverse cell types; localized in hippocampal dendritic spines regulating synaptic plasticity; upregulated in early skeletal muscle development; controls myogenic tone in arteries; has high sensitivity to activating ligands and reduced FKBP12.6 binding affinity; contains N-terminal ATP and chloride binding sites with variants linked to epileptic encephalopathy
PMID: 39366997
3
RYR3 mediates MRGPRX2-triggered mast cell activation and pseudo-allergic dermatitis through calcium mobilization
PMID: 37404822
4
RYR3 polymorphisms are associated with risk and age of onset of hypertension, diabetes, and Alzheimer's disease
PMID: 29590321
5
Rare RYR3 mutations are identified in gender dysphoria patients with potential structural consequences
PMID: 28827537
Disease Associationsⓘ21
congenital myopathy 20Open Targets
0.61Moderate
FeverOpen Targets
0.51Moderate
multiple sclerosisOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.37Weak
strokeOpen Targets
0.37Weak
nemaline myopathyOpen Targets
0.37Weak
cerebral palsyOpen Targets
0.37Weak
Malignant hyperthermiaOpen Targets
0.37Weak
SpasticityOpen Targets
0.37Weak
spinal cord injuryOpen Targets
0.37Weak
hydrops fetalisOpen Targets
0.34Weak
pyogenic granulomaOpen Targets
0.31Weak
primary ovarian insufficiencyOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.31Weak
thyroid cancerOpen Targets
0.30Weak
benign neoplasm of eyeOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
arthritisOpen Targets
0.27Weak
diabetic ketoacidosisOpen Targets
0.27Weak
Congenital myopathy 20UniProt
Pathogenic Variants1
NM_001036.6(RYR3):c.6248A>C (p.Gln2083Pro)Pathogenic
Hydrops fetalis
★☆☆☆→ Residue 2083
View on ClinVar ↗
Drug Targets2
DANTROLENEApproved
Ryanodine receptor 3 antagonist
Fever
DANTROLENE SODIUMApproved
Ryanodine receptor 3 antagonist
Related Genes
TRDNProtein interaction100%CALML3Protein interaction100%CALML6Protein interaction100%CALML5Protein interaction100%CALML4Protein interaction100%ASPHProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
65%
Ovary
19%
Liver
9%
Lung
9%
Heart
8%
Gene Interaction Network
Click a node to explore
RYR3TRDNCALML3CALML6CALML5CALML4ASPH
PROTEIN STRUCTURE
Preparing viewer…
PDB4ERV · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.38 [0.33–0.43]
RankingsWhere RYR3 stands among ~20K protein-coding genes
  • #6,840of 20,598
    Most Researched69
  • #630of 1,025
    FDA-Approved Drug Targets2
  • #5,006of 5,498
    Most Pathogenic Variants1
  • #2,316of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedRYR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Malignant hyperthermia.
PMID: 1589759
Science · 1992
1.00
2
Ryanodine receptors.
PMID: 16115682
Cell Calcium · 2005
0.90
3
Ryanodine receptor channelopathies.
PMID: 20179962
Pflugers Arch · 2010
0.80
4
An Exciting Couple.
PMID: 29796677
J Pediatr Ophthalmol Strabismus · 2018
0.70
5
Maximinis.
PMID: 11100136
Nat Neurosci · 2000
0.60