Gene
RYR3
ryanodine receptor 3
- HGNC 10485↗(opens in a new tab)
- Ensembl gene ENSG00000198838↗(opens in a new tab)
- NCBI Gene 6263↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q13.3-q14
- Coordinates
- Chromosome 15: 33,310,967–33,866,102 (GRCh38)
- Exons
- 104 exons across 555.1 kb
- Protein
- 4,870 amino acids
- MANE Select transcript
- ENST00000634891.2NM_001036.6
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads RYR3 yet. The test sequences your whole genome, so your data includes it all the same.
How RYR3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 15.6 kb of the gene's 555.1 kb; 14,613 of those bases code for the protein.
How a genome test reads RYR3
2
positions in RYR3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 555.1 kb of RYR3, introns included, not only the 15.6 kb of exons.
Traits linked to RYR3
The Human Phenotype Ontology lists these as features of the rare conditions RYR3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
- Difficulty running
- Difficulty walking up stairs
- Gowers sign
- Increased variability in muscle fiber diameter
- Proximal neurogenic muscle weakness
- Type 1 muscle fiber predominance
- Congenital contracture
Show 4 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RYR3 gene: ryanodine receptor 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/ryr3
Dante Labs. RYR3 gene: ryanodine receptor 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ryr3
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