RYR2 |
- 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)