RYR3 ryanodine receptor 3
Gene ID: 6263, updated on 10-Oct-2024Gene type: protein coding
Also known as: RYR-3; CMYO20; CMYP20
- See all available tests in GTR for this gene
- Go to complete Gene record for RYR3
- Go to Variation Viewer for RYR3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of carotid atherosclerosis in HIV-infected men. GeneReviews: Not available | |
| Congenital myopathy 20 | not available |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available |
Genomic context
- Location:
- 15q13.3-q14
- Sequence:
- Chromosome: 15; NC_000015.10 (33310967..33866102)
- Total number of exons:
- 107
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RYR3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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