Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6263
Gene name Gene Name - the full gene name approved by the HGNC.
Ryanodine receptor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RYR3
Synonyms (NCBI Gene) Gene synonyms aliases
CMYO20, CMYP20, RYR-3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMYO20
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q13.3-q14
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium fr
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022517 hsa-miR-124-3p Microarray 18668037
MIRT029294 hsa-miR-26b-5p Microarray 19088304
MIRT739901 hsa-miR-3667-3p HITS-CLIP 33718276
MIRT739902 hsa-miR-4297 HITS-CLIP 33718276
MIRT739900 hsa-miR-1237 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005219 Function Ryanodine-sensitive calcium-release channel activity IBA 21873635
GO:0005219 Function Ryanodine-sensitive calcium-release channel activity ISS
GO:0005219 Function Ryanodine-sensitive calcium-release channel activity TAS 19095005
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005516 Function Calmodulin binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180903 10485 ENSG00000198838
Protein
UniProt ID Q15413
Protein name Ryanodine receptor 3 (RYR-3) (RyR3) (Brain ryanodine receptor-calcium release channel) (Brain-type ryanodine receptor) (Type 3 ryanodine receptor)
Protein function Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction (PubMed:12354756, PubMed:9395096). May regulat
PDB 4ERV , 6UHA , 6UHB , 6UHE , 6UHH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08709 Ins145_P3_rec 10 212 Inositol 1,4,5-trisphosphate/ryanodine receptor Domain
PF02815 MIR 216 398 MIR domain Domain
PF01365 RYDR_ITPR 440 635 RIH domain Family
PF00622 SPRY 659 794 SPRY domain Family
PF02026 RyR 849 939 RyR domain Family
PF02026 RyR 963 1053 RyR domain Family
PF00622 SPRY 1086 1206 SPRY domain Family
PF00622 SPRY 1327 1463 SPRY domain Family
PF01365 RYDR_ITPR 2021 2233 RIH domain Family
PF02026 RyR 2598 2688 RyR domain Family
PF02026 RyR 2716 2800 RyR domain Family
PF08454 RIH_assoc 3726 3844 RyR and IP3R Homology associated Family
PF06459 RR_TM4-6 4234 4504 Ryanodine Receptor TM 4-6 Family
PF00520 Ion_trans 4605 4781 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Brain, skeletal muscle, placenta and possibly liver and kidney. In brain, highest levels are found in the cerebellum, hippocampus, caudate nucleus and amygdala, with lower levels in the corpus callosum, substantia nigra and thalamus. {
Sequence
MAEGGEGGEDEIQFLRTEDEVVLQCIATIHKEQRKFCLAAEGLGNRLCFLEPTSEAKYIP
PDLCVCNFVLEQSLSVRALQEMLANTGENGGEGAAQGGGHRTLLYGHAVLLRHSFSGMYL
TCLTTSRSQTDKLAFDVGLREHATGEACWWTIHPASKQRSEGEKVRIGDDLILVSVSSER
YLHLSVSNGNIQVDASFMQTLWNVHPTCSGSS
IEEGYLLGGHVVRLFHGHDECLTIPSTD
QNDSQHRRIFYEAGGAGTRARSLWRVEPLRISWSGSNIRWGQAFRLRHLTTGHYLALTED
QGLILQDRAKSDTKSTAFSFRASKELKEKLDSSHKRDIEGMGVPEIKYGDSVCFVQHIAS
GLWVTYKAQDAKTSRLGPLKRKVILHQEGHMDDGLTLQ
RCQREESQAARIIRNTTALFSQ
FVSGNNRTAAPITLPIEEVLQTLQDLIAYFQPPEEEMRHEDKQNKLRSLKNRQNLFKEEG
MLALVLNCIDRLNVYNSVAHFAGIAREESGMAWKEILNLLYKLLAALIRGNRNNCAQFSN
NLDWLISKLDRLESSSGILEVLHCILTESPEALNLIAEGHIKSIISLLDKHGRNHKVLDI
LCSLCLCNGVAVRANQNLICDNLLPRRNLLLQTRL
INDVTSIRPNIFLGVAEGSAQYKKW
YFELIIDQVDPFLTAEPTHLRVGWASSSGYAPYPGGGEGWGGNGVGDDLYSYGFDGLHLW
SGRIPRAVASINQHLLRSDDVVSCCLDLGVPSISFRINGQPVQGMFENFNTDGLFFPVMS
FSAGVKVRFLMGGR
HGEFKFLPPSGYAPCYEALLPKEKMRLEPVKEYKRDADGIRDLLGT
TQFLSQASFIPCPVDTSQVILPPHLEKIRDRLAENIHELWGMNKIELGWTFGKIRDDNKR
QHPCLVEFSKLPETEKNYNLQMSTETLKTLLALGCHIAH
VNPAAEEDLKKVKLPKNYMMS
NGYKPAPLDLSDVKLLPPQEILVDKLAENAHNVWAKDRIKQGWTYGIQQDLKNKRNPRLV
PYALLDERTKKSNRDSLREAVRTFVGYGYNIEP
SDQELADSAVEKVSIDKIRFFRVERSY
AVRSGKWYFEFEVVTGGDMRVGWARPGCRPDVELGADDQAFVFEGNRGQRWHQGSGYFGR
TWQPGDVVGCMINLDDASMIFTLNGELLITNKGSELAFADYEIENGFVPICCLGLSQIGR
MNLGTD
ASTFKFYTMCGLQEGFEPFAVNMNRDVAMWFSKRLPTFVNVPKDHPHIEVMRID
GTMDSPPCLKVTHKTFGTQNSNADMIYCRLSMPVECHSSFSHSPCLDSEAFQKRKQMQEI
LSHTTTQCYYAIRIFAGQDPSCVWVGWVTPDYHLYSEKFDLNKNCTVTVTLGDERGRVHE
SVKRSNCYMVWGGDIVASSQRSNRSNVDLEIGCLVDLAMGMLSFSANGKELGTCYQVEPN
TKVFPAVFLQPTSTSLFQFELGK
LKNAMPLSAAIFRSEEKNPVPQCPPRLDVQTIQPVLW
SRMPNSFLKVETERVSERHGWVVQCLEPLQMMALHIPEENRCVDILELCEQEDLMRFHYH
TLRLYSAVCALGNSRVAYALCSHVDLSQLFYAIDNKYLPGLLRSGFYDLLISIHLASAKE
RKLMMKNEYIIPITSTTRNIRLFPDESKRHGLPGVGLRTCLKPGFRFSTPCFVVTGEDHQ
KQSPEIPLESLRTKALSMLTEAVQCSGAHIRDPVGGSVEFQFVPVLKLIGTLLVMGVFDD
DDVRQILLLIDPSVFGEHSAGTEEGAEKEEVTQVEEKAVEAGEKAGKEAPVKGLLQTRLP
ESVKLQMCELLSYLCDCELQHRVEAIVAFGDIYVSKLQANQKFRYNELMQALNMSAALTA
RKTKEFRSPPQEQINMLLNFQLGENCPCPEEIREELYDFHEDLLLHCGVPLEEEEEEEED
TSWTGKLCALVYKIKGPPKPEKEQPTEEEERCPTTLKELISQTMICWAQEDQIQDSELVR
MMFNLLRRQYDSIGELLQALRKTYTISHTSVSDTINLLAALGQIRSLLSVRMGKEEELLM
INGLGDIMNNKVFYQHPNLMRVLGMHETVMEVMVNVLGTEKSQIAFPKMVASCCRFLCYF
CRISRQNQKAMFEHLSYLLENSSVGLASPSMRGSTPLDVAASSVMDNNELALSLEEPDLE
KVVTYLAGCGLQSCPMLLAKGYPDVGWNPIEGERYLSFLRFAVFVNSESVEENASVVVKL
LIRRPECFGPALR
GEGGNGLLAAMQGAIKISENPALDLPSQGYKREVSTGDDEEEEEIVH
MGNAIMSFYSALIDLLGRCAPEMHLIQTGKGEAIRIRSILRSLVPTEDLVGIISIPLKLP
SLNKDGSVSEPDMAANFCPDHKAPMVLFLDRVYGIKDQTFLLHLLEVGFLPDLRASASLD
TVSLSTTEAALALNRYICSAVLPLLTRCAPLFAGTEHCTSLIDSTLQTIYRLSKGRSLTK
AQRDTIEECLLAICNHLRPSMLQQLLRRLVFDVPQLNEYCKMPLKLLTNHYEQCWKYYCL
PSGWGSYGLAVEEELHLTEKLFWGIFDSLSHKKYDPDLFRMALPCLSAIAGALPPDYLDT
RITATLEKQISVDADGNFDPKPINTMNFSLPEKLEYIVTKYAEHSHDKWACDKSQSGWKY
GISLDENVKTHPLIRPFKTLTEKEKEIYRWPARESLKTMLAVGWTVER
TKEGEALVQQRE
NEKLRSVSQANQGNSYSPAPLDLSNVVLSRELQGMVEVVAENYHNIWAKKKKLELESKGG
GSHPLLVPYDTLTAKEKFKDREKAQDLFKFLQVNGIIVSR
GMKDMELDASSMEKRFAYKF
LKKILKYVDSAQEFIAHLEAIVSSGKTEKSPRDQEIKFFAKVLLPLVDQYFTSHCLYFLS
SPLKPLSSSGYASHKEKEMVAGLFCKLAALVRHRISLFGSDSTTMVSCLHILAQTLDTRT
VMKSGSELVKAGLRAFFENAAEDLEKTSENLKLGKFTHSRTQIKGVSQNINYTTVALLPI
LTSIFEHVTQHQFGMDLLLGDVQISCYHILCSLYSLGTGKNIYVERQRPALGECLASLAA
AIPVAFLEPTLNRYNPLSVFNTKTPRERSILGMPDTVEDMCPDIPQLEGLMKEINDLAES
GARYTEMPHVIEVILPMLCNYLSYWWERGPENLPPSTGPCCTKVTSEHLSLILGNILKII
NNNLGIDEASWMKRIAVYAQPIISKARPDLLRSHFIPTLEKLKKKAVKTVQEEEQLKADG
KGDTQEAELLILDEFAVLCRDLYAFYPMLIRYVDNNRSNWLKSPDADSDQLFRMVAEVFI
LWCKSHNFKREEQNFVIQNEINNLAFLTGDSKSKMSKAMQVKSGGQDQERKKTKRRGDLY
SIQTSLIVAALKKMLPIGLNMCTPGDQELISLAKSRYSHRDTDEEVREHLRNNLHLQEKS
DDPAVKWQLNLYKDVLKSEEPFNPEKTVERVQRISAAVFHLEQVEQPLRSKKAVWHKLLS
KQRKRAVVACFRMAPLYNLPRHRSINLFLHGYQRFWIETEEYSFEEKLVQDLAKSPKVEE
EEEEETEKQPDPLHQIILYFSRNALTERSKLEDDPLYTSYSSMMAKSCQSGEDEEEDEDK
EKTFEEKEMEKQKTLYQQARLHERGAAEMVLQMISASKGEMSPMVVETLKLGIAILNGGN
AGVQQKMLDYLKEKKDAGFFQSLSGLMQSCSVLDLNAFERQNKAEGLGMVTEEGTLIVRE
RGEKVLQNDEFTRDLFRFLQLLCEGHNSDFQNFLRTQMGNTTTVNVIISTVDYLLRLQES
ISDFYWYYSGKDIIDESGQHNFSKALAVTKQIFNSLTEYIQGPCIGNQQSLAHSRLWDAV
VGFL
HVFANMQMKLSQDSSQIELLKELLDLLQDMVVMLLSLLEGNVVNGTIGKQMVDTLV
ESSTNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGIISKKEFQKAMEGQKQYTQSEID
FLLSCAEADENDMFNYVDFVDRFHEPAKDIGFNVAVLLTNLSEHMPNDSRLKCLLDPAES
VLNYFEPYLGRIEIMGGAKKIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEQE
KMELFVNFCEDTIFEMQLASQISESDSADRPEEEEEDEDSSYVLEIAGEEEEDGSLEPAS
AFAMACASVKRNVTDFLKRATLKNLRKQYRNVKKMTAKELVKVLFSFFWMLFVGLFQLLF
TILGGIFQILWSTVFGGGLVEGAKNIRVTKILGDMPDPTQFGIHDDTMEAERAEVMEPGI
TTELVHFIKGEKGDTDIMSDLFGLHPKKEGSLKHGPEVGLGDLSEIIGKDEPPTLESTVQ
KKRKAQAAEMKAANEAEGKVESEKADMEDGEKEDKDKEEEQAEYLWTEVTKKKKRRCGQK
VEKPEAFTANFFKGLEIYQTKLLHYLARNFYNLRFLALFVAFAINFILLFYKVTEEPLEE
ETEDVANLWNSFNDEEEEEAMVFFVLQESTGYMAPTLRALAIIHTIISLVCVVGYYCLKV
PLVV
FKREKEIARKLEFDGLYITEQPSEDDIKGQWDRLVINTPSFPNNYWDKFVKRKVIN
KYGDLYGAERIAELLGLDKNALDFSPVEETKAEAASLVSWLSSIDMKYHIWKLGVVFTDN
SFLYLAWYTTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVV
VYLYTVVAFNFFRKFYNKSEDDDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGD
PYEMYRIVFDITFFFFVIVILLAIIQGLIIDAFGELRDQQE
QVREDMETKCFICGIGNDY
FDTTPHGFETHTLQEHNLANYLFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDC
FRKQYEDQLG
Sequence length 4870
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Apelin signaling pathway
Circadian entrainment
Oxytocin signaling pathway
Salivary secretion
Alzheimer disease
Parkinson disease
Prion disease
Pathways of neurodegeneration - multiple diseases
  Stimuli-sensing channels
Ion homeostasis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19508968
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
25262651, 29667327
Unknown
Disease term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC
Myopathy congenital myopathy GenCC
Schizophrenia Schizophrenia GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 34062866
Amyotrophic Lateral Sclerosis Associate 35355568
Arthrogryposis Associate 31230720
Atherosclerosis Associate 20009918, 22627881, 24423397, 24561552
Blast Crisis Associate 33557955
Breast Neoplasms Associate 21810988
Calcinosis Associate 21810988
Cardio Renal Syndrome Associate 37391705
Cardiovascular Diseases Associate 20009918, 22664477
Carotid Artery Diseases Associate 24423397