• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RYR2 (HGNC:10484) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ryanodine receptor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ARVD2
Alias symbols
ARVC2, VTSIP
%HI
14.03(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.25(Read more about gnomAD LOEUF score)
Cytoband
1q43
Genomic Coordinates
GRCh37/hg19: chr1:237205484-237997288 NCBI Ensembl UCSC
GRCh38/hg38: chr1:237042184-237833988 NCBI Ensembl UCSC
MANE Select Transcript
NM_001035.3 ENST00000366574.7 (Read more about MANE Select)
Function
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) cytosolic levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required fo... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34476
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/06/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
The RYR2 gene encodes the cardiac ryanodine receptor that regulates contraction by the intracellular release of calcium and plays and essential rolein excitation-contraction in the heart (PMID: 24743769) . Pathogenic changes that result in gain-of-function of the RYR2 gene have reported in individuals with several types of tachyarrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT), catecholaminergic idiopathic ventricular fibrillation, atrial fibrillation and a structurally normal heart (Napolitano et al., 2014). Loss of function variants have not been associated with RYR2-related disorders. An in-frame deletion of exon 3 has been reported in patients with CPVT and other arrhythmias, however the pathogenetic mechanism has not been well defined (PMID: 24743769).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)