RYR3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RYR3
Official Name
ryanodine receptor 3 [Source:HGNC Symbol;Acc:HGNC:10485]
Ensembl ID
ENSG00000198838
Bio databases IDs NCBI: 6263 Ensembl: ENSG00000198838
Aliases ryanodine receptor 3
Synonyms C230090H21, CMYO20, CMYP20, Ryanodine receptor 3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RYR3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ryanodine-sensitive calcium-release channel
  • SPRY domain
  • RyR and IP3R Homology associated
  • EF-hand domain pair
  • Inositol 1,4,5-trisphosphate/ryanodine receptor
  • RIH domain
  • MIR domain
  • RyR domain
  • beta-trefoil_MIR
  • Ryanodine Receptor TM 4-6
  • ion channel
  • calcium-release channel

Pathways

Biological processes and signaling networks where the RYR3 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • hypotension
  • schizophrenia
  • obesity
  • colorectal cancer
  • non-insulin-dependent diabetes mellitus
  • developmental epileptic encephalopathy
  • diabetes mellitus
  • rotator cuff injury
  • diabetic nephropathy
regulated by
  • meds433
  • 2,3 butanedione monoxime
  • BDNF
  • beta-estradiol
  • CX3CL1
  • MnTMPyP
  • adenosine triphosphate
  • RB1
  • progesterone
  • PDGF-BB
regulates
role in cell
  • expression in
  • degranulation
  • mass
  • long term synaptic depression
  • long-term potentiation
  • degeneration
  • degeneration in
  • mobilization in
  • homeostasis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • microsomal fraction
  • junctional membrane complex
  • Cytoplasm
  • perinuclear region
  • cellular membrane
  • sarcoplasmic reticulum
  • Mitochondria
  • triad junctions
  • cytoplasmic face of plasma membrane
  • myoplasm
  • paraspeckle-like structures

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RYR3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • striated muscle contraction
  • cellular calcium ion homeostasis
  • protein homotetramerization
  • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
  • cellular response to calcium ion
  • cellular response to magnesium ion
  • calcium ion transport
  • calcium ion transmembrane transport
  • release of sequestered calcium ion into cytosol
  • cellular response to caffeine
  • calcium-mediated signaling
  • cellular response to ATP

Cellular Component

Where in the cell the gene product is active
  • Z disc
  • calcium channel complex
  • sarcolemma
  • smooth endoplasmic reticulum
  • membrane
  • sarcoplasmic reticulum membrane

Molecular Function

What the gene product does at the molecular level
  • calcium-release channel activity
  • ryanodine-sensitive calcium-release channel activity
  • calmodulin binding
  • calcium-induced calcium release activity
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.