RYR3 Gene - Ryanodine Receptor 3
Calcium Channel in Skeletal Muscle and Brain
Gene Information Card
| Symbol | RYR3 |
|---|---|
| Full Name | Ryanodine Receptor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 6263 ncbi.nlm.nih.gov/gene/6263 |
| Ensembl ID | ENSG00000198838 |
| UniProt ID | Q15413 |
| OMIM ID | 180903 |
| HGNC ID | 10485 |
| Aliases | RYR-3, hRYR3, RYR3A, RYR3B |
Description
RYR3 encodes the ryanodine receptor 3, a calcium release channel in the sarcoplasmic reticulum of skeletal muscle and in the endoplasmic reticulum of brain neurons. It mediates calcium-induced calcium release (CICR) and is involved in excitation-contraction coupling and neuronal calcium signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malignant Hyperthermia Susceptibility | Gain-of-function mutations in RYR3 may enhance calcium release, leading to hypermetabolic crisis | ClinVar, OMIM |
| Central Core Disease | Altered calcium homeostasis due to RYR3 variants contributes to muscle weakness | ClinVar, OMIM |
| Epilepsy | RYR3 variants linked to altered neuronal calcium signaling and seizure susceptibility | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 3.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myotubes | 15.2 | High expression in differentiated cells |
| SH-SY5Y (neuroblastoma) | 7.8 | Moderate expression |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352Trp) | Missense | Rare | Gain-of-function, increased calcium release |
| c.1459G>A (p.Gly487Arg) | Missense | Rare | Loss-of-function, reduced channel activity |
| c.2345_2346del | Frameshift | Very rare | Loss-of-function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or impair channel assembly reduce calcium release.
Gain of Function (GOF)
Missense mutations in the pore region enhance channel open probability, leading to excessive calcium release.
Dominant Negative (DN)
Some missense variants may form non-functional heterotetramers with wild-type subunits, reducing overall channel activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
• Alzheimer disease (KEGG: hsa05010)
Protein Summary
RYR3 is a 4870-amino acid calcium channel protein that forms homotetramers in the sarcoplasmic/endoplasmic reticulum membrane. It contains a large cytoplasmic domain for regulatory interactions and a transmembrane pore domain. The protein is essential for calcium release in skeletal muscle and modulates neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RYR3 Knockout HEK293 Cell Line | EDJ-KQ1427 | Human | 6263 | Details Get a Quote |
| RYR3 Knockout HeLa Cell Line | EDJ-KQ20970 | Human | 6263 | Details Get a Quote |
| RYR3 Knockout A-549 Cell Line | EDJ-KQ62870 | Human | 6263 | Details Get a Quote |
| RYR3 Knockout HCT 116 Cell Line | EDJ-KQ71335 | Human | 6263 | Details Get a Quote |
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