AutismKB 2.0

Annotation Details for RYR3


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Basic Information Top
Gene Symbol:RYR3 ( - )
Gene Full Name: ryanodine receptor 3
Band: 15q13.3-q14
Quick LinksEntrez ID:6263; OMIM: 180903; Uniprot ID:RYR3_HUMAN; ENSEMBL ID: ENSG00000198838; HGNC ID: 10485
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IBA-plasma membrane-
GO:0016021ISS-integral component of membrane-
GO:0016529ISS-sarcoplasmic reticulum-
GO:0033017ISS-sarcoplasmic reticulum membrane-
GO:0033017TAS-sarcoplasmic reticulum membrane-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005219ISS-ryanodine-sensitive calcium-release channel activity-
GO:0005219TAS-ryanodine-sensitive calcium-release channel activity19095005
GO:0005509IBA-calcium ion binding-
GO:0005516IEA-calmodulin binding-
GO:0015278IMP-calcium-release channel activity9395096
GO:0048763IEA-calcium-induced calcium release activity-
GO ID Evidence Qualifier GO_term References
GO:0006816IMP-calcium ion transport9395096
GO:0034220TAS-ion transmembrane transport-
GO:0051209IEA-release of sequestered calcium ion into cytosol-
GO:0051289ISS-protein homotetramerization-
GO:0051481IEA-negative regulation of cytosolic calcium ion concentration-
GO:0070588ISS-calcium ion transmembrane transport-
GO:0071277ISS-cellular response to calcium ion-
GO:0071286ISS-cellular response to magnesium ion-
GO:0071313ISS-cellular response to caffeine-
GO:0071318ISS-cellular response to ATP-
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RYR3FKBP1A10857011171121 11598113 Reconstituted Complex
RYR3FKBP1A11217511171121 11598113 Reconstituted Complex
RYR3RYR211217412213830 Affinity Capture-Western
RYR3RYR211217512213830 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
RYR3rs1435116, rs1495280, rs1865499, rs2229116, rs2278313, rs2280417, rs2288606, rs2288613, rs2288614, rs2303310, rs2304384, rs2596179, rs2676029, rs2676049, rs3751634, rs3829480, rs5811781 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:99684
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-041001-165'