| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 6262 |
Name | RYR2 |
Synonymous | ARVC2|ARVD2|RYR-2|RyR|VTSIP;ryanodine receptor 2 (cardiac);RYR2;ryanodine receptor 2 (cardiac) |
Definition | cardiac muscle ryanodine receptor-calcium release channel|cardiac-type ryanodine receptor|islet-type ryanodine receptor|kidney-type ryanodine receptor|ryanodine receptor 2|type 2 ryanodine receptor |
Position | 1q43 |
Gene Type | protein-coding |
Gene Regulation: | ENCODE RegulomeDB Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database |
ENCODE RegulomeDB [Top] | |||
|
Link to UCSC genome |
Matched SNP location |
dbSNP ID |
Regulatory information |
|---|---|---|---|
| chr1:237205505-237997288 | chr1:237433524-237433524 | rs2275288 | Single_Nucleotides|eQTL|HEATR1, Chromatin_Structure|DNase-seq|Th2 |
| chr1:237205505-237997288 | chr1:237673228-237673228 | rs2618669 | Single_Nucleotides|eQTL|MTR, Chromatin_Structure|DNase-seq|H7es |
Transcription Factors [Top] |
|
Regulation From TransFac database |
|---|
| RYR2(h) --> RyR2-isoform1(h) (expression). |
| Snapin(h) + RyR2(h) <==> Snapin(h):RyR2(h) (binding) |
| Snapin(h) + RyR2(h) <==> Snapin(h):RyR2(h) (binding) |
| RYR2(h) --> RyR2(h) (expression). |
| RYR2(h) --> RyR2-isoform2(h) (expression). |
Post Transcriptional Modification [Top] | |||
|
Location (AA) |
PTM type |
Literature |
Database |
|---|---|---|---|
| 2808 | Phosphoserine (by CaMK) (By similarity). | Swiss-Prot 53.0 | |
| 3427 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 3536 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 3770 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 3864 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 3865 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 3905 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 4075 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 4104 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 4111 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 4794 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | |
| 2031 | Phosphoserine | 16407108 | Phospho.ELM 6.0 |
Methylation Profile [Top] | ||
|
Chromosome |
Location |
Source |
|---|---|---|
chr1 |
Promoter: 235270825 - 235272825 | Agilent_014791 |
chr1 |
Promoter: 235270825 - 235272825 | GSE27584 |