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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. RYR2, ryanodine receptor 2 (cardiac)
Sequence ID:NM_001035
RefSeqGene ID:NG_008799
Entrez Gene ID:6262
Ensembl ID:ENSG00000198626

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2 
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1CASQ2

Cytogenetic Location (from UniGene)

Cytogenetic Location:1q43Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 237494188 - 237532908

 Exon Info From UCSC:
NM_001035

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9094265IncompleteBC172779ryanodine receptor 2 (cardiac)
9094266IncompleteBC172780ryanodine receptor 2 (cardiac)
9094280IncompleteBC172794ryanodine receptor 2 (cardiac)

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001035 NP_001026 Q92736 Ion_trans
SPRY
RYDR_ITPR
RyR
MIR
RR_TM4-6
RIH_assoc

Related Sequences

 
mRNAGenPeptSwissProt
AK294792 BAG57915 B4DGV4
AK297823 BAG60160 B4DN98
AB204532 BAJ10285 D7UNU2
AB204533 BAJ10286 D7UNU3
AB204534 BAJ10287 D7UNU4
AB204535 BAJ10288 D7UNU5
AB204536 BAJ10289 D7UNU6
AJ002511 CAA05502 Q92736
X91869 CAA62975 Q92736
X98330 CAA66975 Q92736
Y08218 CAA69395 Q92736

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens RYR2 NP_001026 M.musculus Ryr2 20191 Gene Info NP_076357 97
R.norvegicus Ryr2 689560   NP_114467 97
A.gambiae AgaP_AGAP010750 1278919   XP_318561 52
D.melanogaster Rya-r44F 49090   NP_476993 50
C.elegans unc-68 179080   NP_504753 46

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta