Property Summary

NCBI Gene PubMed Count 43
PubMed Score 138.12
PubTator Score 96.36

Knowledge Summary

Patent (3,174)

Expression

  Differential Expression (20)

Disease log2 FC p
astrocytic glioma -1.400 2.0e-02
psoriasis -1.400 1.3e-03
oligodendroglioma -1.500 1.4e-06
osteosarcoma -2.292 1.0e-03
group 3 medulloblastoma -3.600 1.1e-05
atypical teratoid / rhabdoid tumor -1.900 5.4e-03
glioblastoma -1.900 1.1e-02
medulloblastoma, large-cell -2.700 8.4e-04
primitive neuroectodermal tumor -2.000 2.2e-02
Amyotrophic Lateral Sclerosis 1.832 1.6e-05
colon cancer -1.300 2.6e-03
Breast cancer -2.400 3.3e-02
pediatric high grade glioma -1.600 5.6e-03
pilocytic astrocytoma -1.600 7.7e-03
Pick disease -1.100 2.2e-03
progressive supranuclear palsy -1.500 2.0e-02
invasive ductal carcinoma -1.100 3.4e-03
pituitary cancer -1.300 1.7e-05
chronic rhinosinusitis -2.180 6.5e-03
cystic fibrosis and chronic rhinosinusit... -2.134 1.9e-02

Protein-protein Interaction (1)

Gene RIF (33)

PMID Text
25966694 Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR).
25500725 Data show that the common variant single-nucleotide polymorphism rs2229116 of the ryanodine receptor 3 gene (RYR3) was significantly associated with carotid intima-media thickness (cIMT).
24561552 SNPs within the RYR3 region were associated with subclinical atherosclerosis among HIV-infected women. Allelic heterogeneity observed across the three races suggests that the contribution of the RYR3 gene to CCA cIMT is complex.
24423397 rs877087 and rs2229116 of RYR3 gene are associated with atherosclerosis severity in Japanese.
24211435 the rectified RyR3 channel in open conformation may be regulated in situ by two cytosolic activating Ca(2+) sites
24026422 a genetic interaction between the RYR3 and CACNA1C genes explained variance in amyloid deposition above and beyond other major known risk factors for late-onset Alzheimer's disease
23393343 The current study suggests that the functional variant (rs1044129) in the miR-367 binding site of RYR3 may be a potential marker for prognosis in patients following curative surgery for colorectal cancer
22948152 RyR1, RyR2, and RyR3 transcripts were detected in human T cells, RyR1/2 transcript levels increased, whereas those of RyR3 decreased after T cell activation.
22664477 The findings reported here for the case-only analysis of the antihypertensive pharmacogenetic effect of RYR3 among 3058 CHD cases .
22627881 RYR3 gene polymorphisms are associated with common carotid intima-media thickness in HIV-infected white males.
22100703 The study provides biochemical evidence of the interaction between FKBP12 and RYR1, RYR3 and IP3R.
21881589 RyR expressed in epidermal keratinocytes is associated with both differentiation of keratinocytes and epidermal barrier homeostasis.
21810988 A putative binding site for microRNA-367 exists in the 3'UTR of RYR3, and a genetic variant, rs1044129 A-->G, is present in this binding region.
21531043 Alterations in RyR3 expression at early disease stages may reflect the onset of pathologic mechanisms leading to later neurodegeneration.
20962236 HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20009918 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20009918 HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM
19581603 Upregulation of the expression of ryanodine receptor 3 is suggestive of an intracellular calcium leak.
19096130 Observational study of gene-disease association. (HuGE Navigator)
19009018 HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM
18588595 We genotyped 14 tag SNPs in 166 Japanese patients with autism and 375 controls.
18588595 Observational study of gene-disease association. (HuGE Navigator)
14970260 the central binding site for the 12 kDa FK506-binding protein of type-3 ryanodine receptor, encompassing the critical valine proline motif, plays a crucial role in the modulation of the Ca2+ release properties
14550562 RNase protection assay and in situ hybridization revealed that RYR2 mRNA expresses widely in the heart including the SA-node, while RYR3 mRNA expression is limited to the SA-node and to the right atrium.
12471029 smooth muscle tissues express a major dominant negative splice variant of the type 3 Ca2+ release channel (ryanodine receptor)
12354756 essential in the sustained Ca(2+) response in T cells
12213830 smooth muscle RYR3 may function as a suppressor of RyR2-mediated Ca2+ release by forming heteromeric channels with a decreased sensitivity to activation by luminal Ca2+
10508160 RyR3 KO mice show changes in hippocampal synaptic plasticity and a reduced flexibility in re-learning a new target in the water-maze. In the open-field, KO mice displayed a normal exploration and habituation, but had an increased speed of locomotion.
9384575 RyR3 is expressed in all murine skeletal muscles during the post-natal phase of muscle development and in fewer muscles in adult mice. In agreement, RyR3 KO mice present impaired contractility during the first weeks after birth but not in adult life.
1320290 This is the first published report on RyR3 and also establishes the first evidence of wide expression of the RyR3 gene.

AA Sequence

MAEGGEGGEDEIQFLRTEDEVVLQCIATIHKEQRKFCLAAEGLGNRLCFLEPTSEAKYIPPDLCVCNFVL      1 - 70
EQSLSVRALQEMLANTGENGGEGAAQGGGHRTLLYGHAVLLRHSFSGMYLTCLTTSRSQTDKLAFDVGLR     71 - 140
EHATGEACWWTIHPASKQRSEGEKVRIGDDLILVSVSSERYLHLSVSNGNIQVDASFMQTLWNVHPTCSG    141 - 210
SSIEEGYLLGGHVVRLFHGHDECLTIPSTDQNDSQHRRIFYEAGGAGTRARSLWRVEPLRISWSGSNIRW    211 - 280
GQAFRLRHLTTGHYLALTEDQGLILQDRAKSDTKSTAFSFRASKELKEKLDSSHKRDIEGMGVPEIKYGD    281 - 350
SVCFVQHIASGLWVTYKAQDAKTSRLGPLKRKVILHQEGHMDDGLTLQRCQREESQAARIIRNTTALFSQ    351 - 420
FVSGNNRTAAPITLPIEEVLQTLQDLIAYFQPPEEEMRHEDKQNKLRSLKNRQNLFKEEGMLALVLNCID    421 - 490
RLNVYNSVAHFAGIAREESGMAWKEILNLLYKLLAALIRGNRNNCAQFSNNLDWLISKLDRLESSSGILE    491 - 560
VLHCILTESPEALNLIAEGHIKSIISLLDKHGRNHKVLDILCSLCLCNGVAVRANQNLICDNLLPRRNLL    561 - 630
LQTRLINDVTSIRPNIFLGVAEGSAQYKKWYFELIIDQVDPFLTAEPTHLRVGWASSSGYAPYPGGGEGW    631 - 700
GGNGVGDDLYSYGFDGLHLWSGRIPRAVASINQHLLRSDDVVSCCLDLGVPSISFRINGQPVQGMFENFN    701 - 770
TDGLFFPVMSFSAGVKVRFLMGGRHGEFKFLPPSGYAPCYEALLPKEKMRLEPVKEYKRDADGIRDLLGT    771 - 840
TQFLSQASFIPCPVDTSQVILPPHLEKIRDRLAENIHELWGMNKIELGWTFGKIRDDNKRQHPCLVEFSK    841 - 910
LPETEKNYNLQMSTETLKTLLALGCHIAHVNPAAEEDLKKVKLPKNYMMSNGYKPAPLDLSDVKLLPPQE    911 - 980
ILVDKLAENAHNVWAKDRIKQGWTYGIQQDLKNKRNPRLVPYALLDERTKKSNRDSLREAVRTFVGYGYN    981 - 1050
IEPSDQELADSAVEKVSIDKIRFFRVERSYAVRSGKWYFEFEVVTGGDMRVGWARPGCRPDVELGADDQA   1051 - 1120
FVFEGNRGQRWHQGSGYFGRTWQPGDVVGCMINLDDASMIFTLNGELLITNKGSELAFADYEIENGFVPI   1121 - 1190
CCLGLSQIGRMNLGTDASTFKFYTMCGLQEGFEPFAVNMNRDVAMWFSKRLPTFVNVPKDHPHIEVMRID   1191 - 1260
GTMDSPPCLKVTHKTFGTQNSNADMIYCRLSMPVECHSSFSHSPCLDSEAFQKRKQMQEILSHTTTQCYY   1261 - 1330
AIRIFAGQDPSCVWVGWVTPDYHLYSEKFDLNKNCTVTVTLGDERGRVHESVKRSNCYMVWGGDIVASSQ   1331 - 1400
RSNRSNVDLEIGCLVDLAMGMLSFSANGKELGTCYQVEPNTKVFPAVFLQPTSTSLFQFELGKLKNAMPL   1401 - 1470
SAAIFRSEEKNPVPQCPPRLDVQTIQPVLWSRMPNSFLKVETERVSERHGWVVQCLEPLQMMALHIPEEN   1471 - 1540
RCVDILELCEQEDLMRFHYHTLRLYSAVCALGNSRVAYALCSHVDLSQLFYAIDNKYLPGLLRSGFYDLL   1541 - 1610
ISIHLASAKERKLMMKNEYIIPITSTTRNIRLFPDESKRHGLPGVGLRTCLKPGFRFSTPCFVVTGEDHQ   1611 - 1680
KQSPEIPLESLRTKALSMLTEAVQCSGAHIRDPVGGSVEFQFVPVLKLIGTLLVMGVFDDDDVRQILLLI   1681 - 1750
DPSVFGEHSAGTEEGAEKEEVTQVEEKAVEAGEKAGKEAPVKGLLQTRLPESVKLQMCELLSYLCDCELQ   1751 - 1820
HRVEAIVAFGDIYVSKLQANQKFRYNELMQALNMSAALTARKTKEFRSPPQEQINMLLNFQLGENCPCPE   1821 - 1890
EIREELYDFHEDLLLHCGVPLEEEEEEEEDTSWTGKLCALVYKIKGPPKPEKEQPTEEEERCPTTLKELI   1891 - 1960
SQTMICWAQEDQIQDSELVRMMFNLLRRQYDSIGELLQALRKTYTISHTSVSDTINLLAALGQIRSLLSV   1961 - 2030
RMGKEEELLMINGLGDIMNNKVFYQHPNLMRVLGMHETVMEVMVNVLGTEKSQIAFPKMVASCCRFLCYF   2031 - 2100
CRISRQNQKAMFEHLSYLLENSSVGLASPSMRGSTPLDVAASSVMDNNELALSLEEPDLEKVVTYLAGCG   2101 - 2170
LQSCPMLLAKGYPDVGWNPIEGERYLSFLRFAVFVNSESVEENASVVVKLLIRRPECFGPALRGEGGNGL   2171 - 2240
LAAMQGAIKISENPALDLPSQGYKREVSTGDDEEEEEIVHMGNAIMSFYSALIDLLGRCAPEMHLIQTGK   2241 - 2310
GEAIRIRSILRSLVPTEDLVGIISIPLKLPSLNKDGSVSEPDMAANFCPDHKAPMVLFLDRVYGIKDQTF   2311 - 2380
LLHLLEVGFLPDLRASASLDTVSLSTTEAALALNRYICSAVLPLLTRCAPLFAGTEHCTSLIDSTLQTIY   2381 - 2450
RLSKGRSLTKAQRDTIEECLLAICNHLRPSMLQQLLRRLVFDVPQLNEYCKMPLKLLTNHYEQCWKYYCL   2451 - 2520
PSGWGSYGLAVEEELHLTEKLFWGIFDSLSHKKYDPDLFRMALPCLSAIAGALPPDYLDTRITATLEKQI   2521 - 2590
SVDADGNFDPKPINTMNFSLPEKLEYIVTKYAEHSHDKWACDKSQSGWKYGISLDENVKTHPLIRPFKTL   2591 - 2660
TEKEKEIYRWPARESLKTMLAVGWTVERTKEGEALVQQRENEKLRSVSQANQGNSYSPAPLDLSNVVLSR   2661 - 2730
ELQGMVEVVAENYHNIWAKKKKLELESKGGGSHPLLVPYDTLTAKEKFKDREKAQDLFKFLQVNGIIVSR   2731 - 2800
GMKDMELDASSMEKRFAYKFLKKILKYVDSAQEFIAHLEAIVSSGKTEKSPRDQEIKFFAKVLLPLVDQY   2801 - 2870
FTSHCLYFLSSPLKPLSSSGYASHKEKEMVAGLFCKLAALVRHRISLFGSDSTTMVSCLHILAQTLDTRT   2871 - 2940
VMKSGSELVKAGLRAFFENAAEDLEKTSENLKLGKFTHSRTQIKGVSQNINYTTVALLPILTSIFEHVTQ   2941 - 3010
HQFGMDLLLGDVQISCYHILCSLYSLGTGKNIYVERQRPALGECLASLAAAIPVAFLEPTLNRYNPLSVF   3011 - 3080
NTKTPRERSILGMPDTVEDMCPDIPQLEGLMKEINDLAESGARYTEMPHVIEVILPMLCNYLSYWWERGP   3081 - 3150
ENLPPSTGPCCTKVTSEHLSLILGNILKIINNNLGIDEASWMKRIAVYAQPIISKARPDLLRSHFIPTLE   3151 - 3220
KLKKKAVKTVQEEEQLKADGKGDTQEAELLILDEFAVLCRDLYAFYPMLIRYVDNNRSNWLKSPDADSDQ   3221 - 3290
LFRMVAEVFILWCKSHNFKREEQNFVIQNEINNLAFLTGDSKSKMSKAMQVKSGGQDQERKKTKRRGDLY   3291 - 3360
SIQTSLIVAALKKMLPIGLNMCTPGDQELISLAKSRYSHRDTDEEVREHLRNNLHLQEKSDDPAVKWQLN   3361 - 3430
LYKDVLKSEEPFNPEKTVERVQRISAAVFHLEQVEQPLRSKKAVWHKLLSKQRKRAVVACFRMAPLYNLP   3431 - 3500
RHRSINLFLHGYQRFWIETEEYSFEEKLVQDLAKSPKVEEEEEEETEKQPDPLHQIILYFSRNALTERSK   3501 - 3570
LEDDPLYTSYSSMMAKSCQSGEDEEEDEDKEKTFEEKEMEKQKTLYQQARLHERGAAEMVLQMISASKGE   3571 - 3640
MSPMVVETLKLGIAILNGGNAGVQQKMLDYLKEKKDAGFFQSLSGLMQSCSVLDLNAFERQNKAEGLGMV   3641 - 3710
TEEGTLIVRERGEKVLQNDEFTRDLFRFLQLLCEGHNSDFQNFLRTQMGNTTTVNVIISTVDYLLRLQES   3711 - 3780
ISDFYWYYSGKDIIDESGQHNFSKALAVTKQIFNSLTEYIQGPCIGNQQSLAHSRLWDAVVGFLHVFANM   3781 - 3850
QMKLSQDSSQIELLKELLDLLQDMVVMLLSLLEGNVVNGTIGKQMVDTLVESSTNVEMILKFFDMFLKLK   3851 - 3920
DLTSSDTFKEYDPDGKGIISKKEFQKAMEGQKQYTQSEIDFLLSCAEADENDMFNYVDFVDRFHEPAKDI   3921 - 3990
GFNVAVLLTNLSEHMPNDSRLKCLLDPAESVLNYFEPYLGRIEIMGGAKKIERVYFEISESSRTQWEKPQ   3991 - 4060
VKESKRQFIFDVVNEGGEQEKMELFVNFCEDTIFEMQLASQISESDSADRPEEEEEDEDSSYVLEIAGEE   4061 - 4130
EEDGSLEPASAFAMACASVKRNVTDFLKRATLKNLRKQYRNVKKMTAKELVKVLFSFFWMLFVGLFQLLF   4131 - 4200
TILGGIFQILWSTVFGGGLVEGAKNIRVTKILGDMPDPTQFGIHDDTMEAERAEVMEPGITTELVHFIKG   4201 - 4270
EKGDTDIMSDLFGLHPKKEGSLKHGPEVGLGDLSEIIGKDEPPTLESTVQKKRKAQAAEMKAANEAEGKV   4271 - 4340
ESEKADMEDGEKEDKDKEEEQAEYLWTEVTKKKKRRCGQKVEKPEAFTANFFKGLEIYQTKLLHYLARNF   4341 - 4410
YNLRFLALFVAFAINFILLFYKVTEEPLEEETEDVANLWNSFNDEEEEEAMVFFVLQESTGYMAPTLRAL   4411 - 4480
AIIHTIISLVCVVGYYCLKVPLVVFKREKEIARKLEFDGLYITEQPSEDDIKGQWDRLVINTPSFPNNYW   4481 - 4550
DKFVKRKVINKYGDLYGAERIAELLGLDKNALDFSPVEETKAEAASLVSWLSSIDMKYHIWKLGVVFTDN   4551 - 4620
SFLYLAWYTTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFN   4621 - 4690
FFRKFYNKSEDDDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDPYEMYRIVFDITFFFFVIVI   4691 - 4760
LLAIIQGLIIDAFGELRDQQEQVREDMETKCFICGIGNDYFDTTPHGFETHTLQEHNLANYLFFLMYLIN   4761 - 4830
KDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLG                                 4831 - 4870
//

Text Mined References (44)

PMID Year Title
25966694 2015 Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.
25500725 2015 Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.
24831772 2014 A polymorphism at the microRNA binding site in the 3' untranslated region of C14orf101 is associated with non-Hodgkin lymphoma overall survival.
24561552 2014 RYR3 gene variants in subclinical atherosclerosis among HIV-infected women in the Women's Interagency HIV Study (WIHS).
24423397 2014 Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population.
24211435 2013 RyR3 in situ regulation by Ca(2+) and quercetin and the RyR3-mediated Ca(2+) release flux in intact Jurkat cells.
24147578 2013 Glutamate drugs and pharmacogenetics of OCD: a pathway-based exploratory approach.
24026422 2014 Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23393343 2013 Functional polymorphism in the MicroRNA-367 binding site as a prognostic factor for colonic cancer.
22948152 2012 Bidirectional coupling between ryanodine receptors and Ca2+ release-activated Ca2+ (CRAC) channel machinery sustains store-operated Ca2+ entry in human T lymphocytes.
22664477 2013 RYR3 gene polymorphisms and cardiovascular disease outcomes in the context of antihypertensive treatment.
22627881 2012 Replication of RYR3 gene polymorphism association with cIMT among HIV-infected whites.
22100703 2012 Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels.
21881589 2012 Ryanodine receptors are expressed in epidermal keratinocytes and associated with keratinocyte differentiation and epidermal permeability barrier homeostasis.
21810988 2011 Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification.
21531043 2012 Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20009918 2010 A genome-wide association study of carotid atherosclerosis in HIV-infected men.
19581603 2009 Association between statin-associated myopathy and skeletal muscle damage.
19096130 2008 Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients.
19095005 2009 New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
18588595 2008 No association between the ryanodine receptor 3 gene and autism in a Japanese population.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
14970260 2004 The 12 kDa FK506-binding protein, FKBP12, modulates the Ca(2+)-flux properties of the type-3 ryanodine receptor.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14550562 2003 The mouse sino-atrial node expresses both the type 2 and type 3 Ca(2+) release channels/ryanodine receptors.
12565913 2003 Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
12471029 2003 Smooth muscle tissues express a major dominant negative splice variant of the type 3 Ca2+ release channel (ryanodine receptor).
12354756 2002 Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex.
12213830 2002 Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors).
11598113 2001 The conserved sites for the FK506-binding proteins in ryanodine receptors and inositol 1,4,5-trisphosphate receptors are structurally and functionally different.
11171121 2001 Characterization and mapping of the 12 kDa FK506-binding protein (FKBP12)-binding site on different isoforms of the ryanodine receptor and of the inositol 1,4,5-trisphosphate receptor.
10508160 1999 Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning.
9607712 1998 Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.
9515741 1998 cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene.
9395096 1997 Molecular cloning and characterization of a human brain ryanodine receptor.
9384575 1997 Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles.
8276408 1993 Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization.
7556644 1995 Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle.
7523185 1994 Involvement of the brain type of ryanodine receptor in T-cell proliferation.
1320290 1992 Expression of a ryanodine receptor-Ca2+ channel that is regulated by TGF-beta.