Gene: RYR3

Alternate names for this Gene: RYR-3

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q13.3-q14

Description of this Gene: ryanodine receptor 3

Type of Gene: protein-coding

rs2229116 in RYR3 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.

rs2229116 in RYR3 gene and AIDS, PROGRESSION TO PMID 20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.

rs11072541 in RYR3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12901404 in RYR3 gene and Degenerative polyarthritis PMID 19508968 2009 A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium.

rs2229116 in RYR3 gene and HIV-1 infection PMID 20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.

rs2229116 in RYR3 gene and HIV-1, RESISTANCE TO PMID 20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.

rs2229116 in RYR3 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.

rs11072541 in RYR3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.