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0RYR2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionRyanodine receptor 2 (cardiac muscle-type ryanodine receptor) (ryr2) (ryr-2) (cardiac muscle ryanodine receptor-calcium release channel) (hryr-2).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005886 plasma membrane (TAS)
0015278 calcium-release channel activity (TAS)
0006936 muscle contraction (TAS)
0008016 regulation of heart contraction rate (TAS)
0007165 signal transduction (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
This is a domain found in ryanodine.nositol trisphosphate receptor and protein O-mannosyltransferase. Inositol 1..-trisphosphate (InsP3) is an intracellular second messenger that transduces growth factor and neurotransmitter signals. InsP3 mediates the release of Ca2+ from intracellular stores by binding to specific Ca2+ channel-coupled receptors. Ryanodine receptors are involved in communication between transverse-tubules and the sarcoplamic reticulum of cardiac and skeletal muscle. The proteins function as a Ca2+-release channels following depolarisation of transverse-tubules . The function is modulated by Ca2+.g2+.TP and calmodulin. Deficiency in the ryanodine receptor may be the cause of malignant hyperthermia (MH) and of central core disease of muscle (CCD) . protein O-mannosyltransferases transfer mannose from DOL-P-mannose to ser or thr residues on proteins.
InterPro domains unassigned to SynO:
This eukaryotic domain is found in ryanodine receptors (RyR) and inositol 1..-trisphosphate receptors (IP3R) which together form a superfamily of homotetrameric ligand-gated intracellular Ca2+ channels . There seems to be no known function for this domain . Also see the IP3-binding domain and .
  IPR013662:RyR and IP3R Homology associated
The release of Ca2+ ions from intracellular stores is a key step in a wide variety of cellular functions. In striated muscle.he release of Ca2+ from the sarcoplasmic reticulum (SR) leads to muscle contraction. Ca2+ release occurs through large.igh-conductance Ca2+ release channels.lso known as ryanodine receptors (RyRs) because they bind the plant alkaloid ryanodine with high affinity and specificity .This region covers TM regions 4-6 of the ryanodine receptor 1 family.
  IPR009460:Ryanodine Receptor TM 4-6
Ryanodine and Inositol 1..-trisphosphate (IP3) receptors are intracellular Ca2+-release channels. They become activated upon binding of their respective ligands.a2+ and IP3.pening an intrgral Ca2+ channel. Ryanodine receptor activation is a key component of muscular contraction.heir activation allowing release of Ca2+ from the sarcoplasmic reticulum. Mutations in the ryanodine receptor lead to malignant hyperthermia susceptibility the and central core disease of muscle.
  IPR000699:Intracellular calcium-release channel
This domain is called RyR for Ryanodine receptor . The domain is found in four copies in the ryanodine receptor. The function of this domain is unknown.
  IPR003032:Ryanodine receptor Ryr
The SPRY domain is of unknown function. Distant homologues are domains inbutyrophilin/marenostrin/pyrin .Ca2+-release from the sarcoplasmic or endoplasmic reticulum.he intracellular Ca2+ store.s mediated by the ryanodine receptor (RyR) and/or the inositol trisphosphate receptor (IP3R).
  IPR003877:SPla/RYanodine receptor SPRY
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
Many calcium-binding proteins belong to the same evolutionary family and share a type of calcium-binding domain known as the EF-hand. This type of domain consists of a twelve residue loop flanked on both side by a twelve residue alpha-helical domain. In an EF-hand loop the calcium ion is coordinated in a pentagonal bipyramidal configuration. The six residues involved in the binding are in positions 1.... and 12; these residues are denoted by X...Y.X and -Z. The invariant Glu or Asp at position 12 provides two oxygens for liganding Ca (bidentate ligand).
  IPR002048:Calcium-binding EF-hand
This domain consists of a duplication of two EF-hand each unit is composed of two helices connected by a twelve-residue calcium-binding loop. The calcium ion in the EF-hand loop is coordinated in a pentagonal bipyramidal configuration. Many calcium-binding proteins contain an EF-hand type calcium-binding domain . These include: calbindin D9K.100 proteins such as calcyclin.olcalcin phl p 7 (a calcium-binding pollen allergen).steonectin.arvalbumin.almodulin family of proteins (troponin C.altractin.dc4p.yosin essential chain.alcineurin.ecoverin.eurocalcin).lasmodial-specific CaII-binding protein Cbp40.enta-EF-Hand proteins (sorcin.rancalcin.alpain).s well as multidomain proteins such as phosphoinositide-specific phospholipase C.ystrophin.b1 and alpha-actinin. The fold consists of four helices and an open array of two hairpins.
  IPR011992:EF-Hand type
Ryanodine receptors are involved in communication between transverse-tubulesand the sarcoplamic reticulum of cardiac and skeletal muscle. The proteinsfunction as a Ca2+-release channels following depolarisation of transverse-tubules . The function is modulated by Ca2+.g2+.TP and calmodulin.Deficiency in the ryanodine receptor may be the cause of malignanthyperthermia (MH) and of central core disease of muscle (CCD) . MH isan autosomal dominant disorder of skeletal muscle and is a principalcause of death due to anaesthesia.Calcium release activity of the receptors resides in the C-terminal regionof the protein.he remaining part of the molecule forming a footstructure that spans the junctional gap between the sarcoplamic reticulumand the transverse-tubule. The foot structure may interact with thecytoplasmic region of the dihydropyridine receptor.Analysis of the sequence reveals 10 potential transmembrane (TM) regionsin the C-terminal fifth of the molecule and 2 further potential TM regionsnearer to the centre . These may contribute to the formation of the Ca2+conducting pore. The rest of the sequence is hydrophilic.nd presumablyconstitutes the cytoplasmic domain of the protein.
  IPR013333:Ryanodine receptor, N-terminal
SequencesProtein: RYR2_HUMAN (4967 aa)
mRNA: NM_001035
Local Annotation
Synapse Ontology
Any process that activates or increases the rate, frequency or extent of synaptic growth at neuromuscular junction.
sdb:0047 positive regulation of synaptic growth at neuromuscular junction  (Evidence:keywords,domains)
those channels, like InsP3-gated calcium channels which activated by InsP3 and release calcium into plasma.
sdb:0117 ionotropic receptor on the ER  (Evidence:keywords,domains)
protein kinase-catalyzed phosphorylation of specific ion channel subunits lead to cell surface expression of ion channel subunit
sdb:0201 cell surface expression of ion channel subunit  (Evidence:keywords,domains)
activation of calmodulin-dependent protein kinases
sdb:0204 activation of calmodulin-dependent protein kinase  (Evidence:keywords,domains)
calcium-regulated transcription factor
sdb:0215 calcium-regulated transcription factor  (Evidence:keywords,domains)
calcium dependent short-term forms of presynaptic plasticity
sdb:0234 calcium dependent short-term forms of presynaptic plasticity  (Evidence:keywords,domains)
modulate the ability to generate LTP
sdb:0252 modulation of the ability to generate LTP  (Evidence:keywords,domains)
sdb:0265 cAMP mediated STP  (Evidence:keywords,domains)
intracellular calcium store release to change the concentration of cytosolic calcium.
sdb:0321 intracellular calcium store release  (Evidence:keywords,domains)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords,domains)
KO assignmentK04962
  Level 3 annotation:
    ryanodine receptor 2 (cardiac)
  Level 2 annotation:
    Calcium signaling pathway
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 57 residues, 235272324-235272492Exon2: 42 residues, 235500419-235500539Exon3: 37 residues, 235560800-235560905Exon4: 9 residues, 235585887-235585908Exon5: 7 residues, 235594280-235594295Exon6: 27 residues, 235599456-235599531Exon7: 28 residues, 235604639-235604718Exon8: 39 residues, 235607245-235607358Exon9: 35 residues, 235617203-235617303Exon10: 34 residues, 235618009-235618106Exon11: 27 residues, 235646971-235647046Exon12: 54 residues, 235653014-235653171Exon13: 57 residues, 235671241-235671406Exon14: 42 residues, 235675323-235675445Exon15: 63 residues, 235684313-235684497Exon16: 47 residues, 235686522-235686658Exon17: 34 residues, 235699014-235699110Exon18: 41 residues, 235721728-235721847Exon19: 46 residues, 235722876-235723010Exon20: 82 residues, 235726433-235726675Exon21: 66 residues, 235730633-235730826Exon22: 74 residues, 235733211-235733428Exon23: 37 residues, 235736632-235736737Exon24: 36 residues, 235741610-235741714Exon25: 30 residues, 235760349-235760433Exon26: 55 residues, 235778353-235778513Exon27: 51 residues, 235780466-235780614Exon28: 71 residues, 235796489-235796698Exon29: 60 residues, 235799067-235799242Exon30: 71 residues, 235819715-235819924Exon31: 119 residues, 235820562-235820915Exon32: 40 residues, 235821661-235821776Exon33: 55 residues, 235823398-235823559Exon34: 55 residues, 235825420-235825580Exon35: 31 residues, 235831947-235832034Exon36: 77 residues, 235840684-235840911Exon37: 270 residues, 235843961-235844766Exon38: 69 residues, 235847208-235847409Exon39: 37 residues, 235853687-235853793Exon40: 50 residues, 235855583-235855727Exon41: 93 residues, 235857729-235858003Exon42: 40 residues, 235861349-235861464Exon43: 46 residues, 235863500-235863633Exon44: 36 residues, 235864811-235864915Exon45: 47 residues, 235868279-235868415Exon46: 64 residues, 235868937-235869124Exon47: 37 residues, 235870819-235870925Exon48: 42 residues, 235873249-235873370Exon49: 58 residues, 235878366-235878536Exon50: 75 residues, 235879799-235880020Exon51: 32 residues, 235881333-235881424Exon52: 49 residues, 235884196-235884337Exon53: 56 residues, 235885743-235885907Exon54: 28 residues, 235887866-235887945Exon55: 32 residues, 235889907-235889997Exon56: 48 residues, 235890732-235890870Exon57: 28 residues, 235896434-235896512Exon58: 27 residues, 235897805-235897881Exon59: 43 residues, 235904018-235904142Exon60: 40 residues, 235904653-235904769Exon61: 23 residues, 235907970-235908035Exon62: 42 residues, 235910378-235910500Exon63: 18 residues, 235917377-235917427Exon64: 22 residues, 235928887-235928948Exon65: 81 residues, 235930151-235930390Exon66: 29 residues, 235931900-235931982Exon67: 45 residues, 235935135-235935266Exon68: 109 residues, 235936871-235937192Exon69: 82 residues, 235938780-235939021Exon70: 31 residues, 235939402-235939490Exon71: 33 residues, 235941667-235941760Exon72: 59 residues, 235947120-235947291Exon73: 22 residues, 235948384-235948444Exon74: 47 residues, 235953050-235953185Exon75: 14 residues, 235956195-235956231Exon76: 39 residues, 235957009-235957122Exon77: 34 residues, 235960182-235960279Exon78: 36 residues, 235961968-235962072Exon79: 19 residues, 235963627-235963679Exon80: 20 residues, 235972218-235972272Exon81: 35 residues, 235986210-235986310Exon82: 28 residues, 235987619-235987699Exon83: 27 residues, 235989698-235989775Exon84: 26 residues, 235990877-235990951Exon85: 29 residues, 236000729-236000810Exon86: 31 residues, 236001934-236002023Exon87: 45 residues, 236003442-236003571Exon88: 37 residues, 236008588-236008693Exon89: 29 residues, 236011487-236011569Exon90: 434 residues, 236013597-236014895Exon91: 24 residues, 236015891-236015959Exon92: 51 residues, 236017910-236018058Exon93: 31 residues, 236021351-236021438Exon94: 75 residues, 236022027-236022246Exon95: 45 residues, 236023789-236023920Exon96: 16 residues, 236025211-236025254Exon97: 46 residues, 236027959-236028093Exon98: 22 residues, 236031778-236031839Exon99: 51 residues, 236036059-236036206Exon100: 47 residues, 236038823-236038958Exon101: 54 residues, 236048958-236049115Exon102: 23 residues, 236058303-236058368Exon103: 35 residues, 236060452-236060553Exon104: 19 residues, 236061436-236061488Exon105: 269 residues, 236062474-236063276Exon106: 2 residues, -Jump to RYR2_HUMAN