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ryanodine receptor 2 (cardiac) OKDB#: 4763
 Symbols: RYR2 Species: human
 Synonyms: RyR, ARVC2, ARVD2, RYR-2, VTSIP,  Locus: 1q43 in Homo sapiens
HPMR


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General Comment NCBI Summary: This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
General function Receptor
Comment
Cellular localization Other Membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Cumulus
Comment Specific genes are selectively expressed between cumulus and granulosa cells from individual human pre-ovulatory follicles. Grndahl ML et al. During folliculogenesis the granulosa cells differentiate into two cell types: Cumulus cells (CC) and mural granulosa cells (MGC). The objective of the study was to generate and compare the transcriptomes of MGC and CC from the pre-ovulatory follicle to characterize the detailed profile of the two cell populations shortly before ovulation.Twenty-one IVF/ICSI patients undergoing controlled ovarian stimulation (COS) donated CC and MGC from individual follicles containing metaphase-II oocytes. Cells were prepared immediately after recovery and mRNA was isolated for whole-genome-gene-expression analysis and RT-PCRs. Paired (within the individual follicle) comparisons between the CC and MGC expression profiles were performed and corrected for multiple comparisons.A total of 1562 genes were differentially expressed by >2-fold (p-value<0.01) in the two cell types. Of these, 156 genes were >8-fold changed and represented specialised cellular functional categories such as inflammatory response, extracellular-matrix and cell-cell-communication while the 1406 genes 2-8-fold changed represented functional categories such as proliferation and lipid metabolism. Transcripts not previously linked to the follicle were found to be differentially expressed between CC and MGC suggesting specialized function in these compartments, e.g. pepsinogen-A was selectively expressed in MGC, while ryanodine-receptor-2 (RYR2) was selectively expressed in CC. Positive correlations were present between expression levels of RYR2 and the amphiregulin and gap-junction proteins.In conclusion, the transcriptomes of corresponding CC and MGC from individual pre-ovulatory follicles clearly revealed two distinct cell types. New as well as known genes representing specific cell functions close to ovulation, were highlighted.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Aug. 28, 2012, 10:15 a.m. by: hsueh   email:
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last update: Aug. 28, 2012, 10:15 a.m. by: hsueh    email:



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