Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RYR2
gptkb:cardiac_ryanodine_receptor gptkb:CPVT1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:arrhythmogenic_right_ventricular_dysplasia
gptkb:catecholaminergic_polymorphic_ventricular_tachycardia cardiac muscle contraction |
| gptkbp:discoveredBy |
gptkb:Andrew_Marks
|
| gptkbp:encodes |
ryanodine receptor 2 protein
|
| gptkbp:Entrez_Gene_ID |
6262
|
| gptkbp:expressedIn |
brain
heart pancreas |
| gptkbp:fullName |
gptkb:ryanodine_receptor_2
|
| gptkbp:function |
calcium channel activity
|
| gptkbp:HGNC_ID |
10484
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ryr2
|
| gptkbp:locatedOnChromosome |
1q43
|
| gptkbp:location |
sarcoplasmic reticulum membrane
|
| gptkbp:molecularWeight |
~565 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
|
| gptkbp:OMIM |
180902
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
mouse Ryr2
rat Ryr2 |
| gptkbp:proteinFamily |
gptkb:ryanodine_receptor_family
|
| gptkbp:UniProtID |
gptkb:Q92736
|
| gptkbp:bfsParent |
gptkb:RYR2
|
| gptkbp:bfsLayer |
7
|