Gene Symbol | RYR2 |
Entrez ID | 6262 |
Uniprot ID | Q92736 |
Description | ryanodine receptor 2 (cardiac) |
Chromosomal Location | chr1: 237,042,205-237,833,988 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001666 |
response to hypoxia |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
ISS |
BP |
GO:0002027 |
regulation of heart rate |
Any process that modulates the frequency or rate of heart contraction. |
IMP |
BP |
GO:0003143 |
embryonic heart tube morphogenesis |
The process in which the anatomical structures of the embryonic heart tube are generated and organized. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. |
ISS |
BP |
GO:0003220 |
left ventricular cardiac muscle tissue morphogenesis |
The process in which the anatomical structures of left cardiac ventricle muscle are generated and organized. |
ISS |
BP |
GO:0003300 |
cardiac muscle hypertrophy |
The enlargement or overgrowth of all or part of the heart muscle due to an increase in size of cardiac muscle cells without cell division. |
ISS |
BP |
GO:0005513 |
detection of calcium ion |
The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal. |
IDA |
BP |
GO:0006816 |
calcium ion transport |
The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IDA |
BP |
GO:0006874 |
cellular calcium ion homeostasis |
Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
ISS |
BP |
GO:0010460 |
positive regulation of heart rate |
Any process that activates or increases the frequency or rate of heart contraction. |
ISS |
BP |
GO:0010881 |
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
IC|ISS |
BP |
GO:0010882 |
regulation of cardiac muscle contraction by calcium ion signaling |
Any process that modulates the frequency, rate or extent of cardiac muscle contraction by changing the calcium ion signals that trigger contraction. |
IMP |
BP |
GO:0014808 |
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
The process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels. |
IMP|ISS |
BP |
GO:0014850 |
response to muscle activity |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus. |
IMP |
BP |
GO:0019722 |
calcium-mediated signaling |
Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
ISS |
BP |
GO:0030509 |
BMP signaling pathway |
A series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IEA |
BP |
GO:0031000 |
response to caffeine |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a caffeine stimulus. Caffeine is an alkaloid found in numerous plant species, where it acts as a natural pesticide that paralyzes and kills certain insects feeding upon them. |
IDA |
BP |
GO:0034220 |
ion transmembrane transport |
A process in which an ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
TAS |
BP |
GO:0035584 |
calcium-mediated signaling using intracellular calcium source |
A series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response. |
IDA |
BP |
GO:0035994 |
response to muscle stretch |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length. |
IMP |
BP |
GO:0051209 |
release of sequestered calcium ion into cytosol |
The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment. |
IDA|ISS |
BP |
GO:0051284 |
positive regulation of sequestering of calcium ion |
Any process that activates or increases the frequency, rate or extent of the binding or confining calcium ions such that they are separated from other components of a biological system. |
IDA |
BP |
GO:0051480 |
regulation of cytosolic calcium ion concentration |
Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
ISS |
BP |
GO:0051775 |
response to redox state |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating redox state. Redox state refers to the balance of oxidized versus reduced forms of electron donors and acceptors in an organelle, cell or organ; plastoquinone, glutathione (GSH/GSSG), and nicotinamide nucleotides (NAD+/NADH and NADP+/NADPH) are among the most important. |
IDA |
BP |
GO:0055117 |
regulation of cardiac muscle contraction |
Any process that modulates the frequency, rate or extent of cardiac muscle contraction. |
IMP |
BP |
GO:0060048 |
cardiac muscle contraction |
Muscle contraction of cardiac muscle tissue. |
IMP |
BP |
GO:0060070 |
canonical Wnt signaling pathway |
The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
IEA |
BP |
GO:0060402 |
calcium ion transport into cytosol |
The directed movement of calcium ions (Ca2+) into the cytosol. |
IDA |
BP |
GO:0070296 |
sarcoplasmic reticulum calcium ion transport |
The directed movement of calcium ions (Ca2+) into, out of or within the sarcoplasmic reticulum. |
TAS |
BP |
GO:0071313 |
cellular response to caffeine |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a caffeine stimulus. Caffeine is an alkaloid found in numerous plant species, where it acts as a natural pesticide that paralyzes and kills certain insects feeding upon them. |
IDA|ISS |
BP |
GO:0071872 |
cellular response to epinephrine stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system. |
ISS|TAS |
BP |
GO:0072599 |
establishment of protein localization to endoplasmic reticulum |
The directed movement of a protein to a specific location in the endoplasmic reticulum. |
IDA |
BP |
GO:0086005 |
ventricular cardiac muscle cell action potential |
An action potential that occurs in a ventricular cardiac muscle cell. |
ISS |
BP |
GO:0086029 |
Purkinje myocyte to ventricular cardiac muscle cell signaling |
Any process that mediates the transfer of information from a Purkinje myocyte to a ventricular cardiac muscle cell. |
ISS |
BP |
GO:0086064 |
cell communication by electrical coupling involved in cardiac conduction |
The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction. |
IC |
BP |
GO:0097050 |
type B pancreatic cell apoptotic process |
Any apoptotic process in a type B pancreatic cell, a cell located towards center of the islets of Langerhans that secretes insulin. |
IMP |
BP |
GO:0098735 |
positive regulation of the force of heart contraction |
Any process that increases the force of heart muscle contraction. |
IMP |
BP |
GO:0098904 |
regulation of AV node cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an atrioventricular node myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
BP |
GO:0098907 |
regulation of SA node cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an SA node cardiac myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
BP |
GO:0098910 |
regulation of atrial cardiac muscle cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an atrial cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
BP |
GO:0098911 |
regulation of ventricular cardiac muscle cell action potential |
Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a ventricular cardiac muscle cell contributing to the regulation of its contraction. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. |
IMP |
BP |
GO:1901896 |
positive regulation of calcium-transporting ATPase activity |
Any process that activates or increases the frequency, rate or extent of calcium-transporting ATPase activity. |
IDA |
BP |
GO:1903779 |
regulation of cardiac conduction |
Any process that modulates the frequency, rate or extent of cardiac conduction. |
TAS |
CC |
GO:0005790 |
smooth endoplasmic reticulum |
The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. |
IBA |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
ISS |
CC |
GO:0014701 |
junctional sarcoplasmic reticulum membrane |
The part of the sarcoplasmic reticulum membrane that contains calcium release channels, is devoted to calcium release and is juxtaposed to transverse tubule membrane. The junctional sarcoplasmic reticulum membrane consists of the junctional region of the terminal cisterna membrane. |
TAS |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016529 |
sarcoplasmic reticulum |
A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage. |
IDA |
CC |
GO:0030018 |
Z disc |
Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
IDA|ISS |
CC |
GO:0033017 |
sarcoplasmic reticulum membrane |
The lipid bilayer surrounding the sarcoplasmic reticulum. |
ISS|TAS |
CC |
GO:0034704 |
calcium channel complex |
An ion channel complex through which calcium ions pass. |
IDA |
CC |
GO:0042383 |
sarcolemma |
The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
IBA |
CC |
GO:0043234 |
protein complex |
A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical. |
IDA |
CC |
GO:0070062 |
extracellular exosome |
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
IDA |
MF |
GO:0005219 |
ryanodine-sensitive calcium-release channel activity |
Enables the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts. |
IDA|TAS |
MF |
GO:0005262 |
calcium channel activity |
Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
ISS |
MF |
GO:0005509 |
calcium ion binding |
Interacting selectively and non-covalently with calcium ions (Ca2+). |
IBA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005516 |
calmodulin binding |
Interacting selectively and non-covalently with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
IMP|IPI|ISS |
MF |
GO:0015278 |
calcium-release channel activity |
Enables the transmembrane transfer of a calcium ion from intracellular stores by a channel that opens when a specific intracellular ligand has been bound by the channel complex or one of its constituent parts. |
IDA|ISS |
MF |
GO:0019899 |
enzyme binding |
Interacting selectively and non-covalently with any enzyme. |
IPI |
MF |
GO:0034236 |
protein kinase A catalytic subunit binding |
Interacting selectively and non-covalently with one or both of the catalytic subunits of protein kinase A. |
IDA |
MF |
GO:0034237 |
protein kinase A regulatory subunit binding |
Interacting selectively and non-covalently with one or both of the regulatory subunits of protein kinase A. |
IDA |
MF |
GO:0042802 |
identical protein binding |
Interacting selectively and non-covalently with an identical protein or proteins. |
IPI |
MF |
GO:0043621 |
protein self-association |
Interacting selectively and non-covalently with a domain within the same polypeptide. |
IEA |
MF |
GO:0043924 |
suramin binding |
Interacting selectively and non-covalently with suramin, a naphthalenesulfonic acid compound which is used in the treatment of diseases caused by trypanosomes and worms. |
IMP |
MF |
GO:0044325 |
ion channel binding |
Interacting selectively and non-covalently with one or more specific sites on an ion channel, a protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient. |
ISS |
MF |
GO:0048763 |
calcium-induced calcium release activity |
Enables transmembrane transfer of calcium ions from an intracellular store to the cytosol on induction by increased calcium concentration. |
IDA |
Domain ID | Description |
---|---|
IPR000699 |
RIH (RyR and IP3R Homology) domain |
IPR001870 |
B30.2/SPRY domain |
IPR002048 |
EF-hand domain |
IPR003032 |
Ryanodine receptor Ryr |
IPR003877 |
SPRY domain |
IPR005821 |
Ion transport domain |
IPR009460 |
Ryanodine Receptor TM 4-6 |
IPR011989 |
Armadillo-like helical |
IPR011992 |
EF-hand domain pair |
IPR013320 |
Concanavalin A-like lectin/glucanase domain |
IPR013333 |
Ryanodine receptor |
IPR013662 |
RyR/IP3R Homology associated domain |
IPR014821 |
Inositol 1,4,5-trisphosphate/ryanodine receptor |
IPR015925 |
Ryanodine receptor-related |
IPR016093 |
MIR motif |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04020 |
Calcium signaling pathway |
KEGG |
hsa04024 |
cAMP signaling pathway |
KEGG |
hsa04260 |
Cardiac muscle contraction |
KEGG |
hsa04261 |
Adrenergic signaling in cardiomyocytes |
KEGG |
hsa04371 |
Apelin signaling pathway |
KEGG |
hsa04713 |
Circadian entrainment |
KEGG |
hsa04911 |
Insulin secretion |
KEGG |
hsa04921 |
Oxytocin signaling pathway |
KEGG |
hsa04972 |
Pancreatic secretion |
KEGG |
hsa05410 |
Hypertrophic cardiomyopathy (HCM) |
KEGG |
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
hsa05414 |
Dilated cardiomyopathy |
KEGG |
WP536 |
Calcium Regulation in the Cardiac Cell |
WikiPathways |
WP706 |
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
WikiPathways |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
WP289 |
Myometrial Relaxation and Contraction Pathways |
WikiPathways |
WP3679 |
Cell-type Dependent Selectivity of CCK2R Signaling |
WikiPathways |
h_no1Pathway |
Actions of Nitric Oxide in the Heart |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0008074 |
Child Development Disorders, Pervasive |
C0023976 |
Long Qt Syndrome |
C0036346 |
Schizophrenia, Childhood |
C0039231 |
Tachycardia |
C0042514 |
Tachycardia, Ventricular |
C0151744 |
Myocardial Ischemia |
C0853897 |
Diabetic Cardiomyopathies |
C0878544 |
Cardiomyopathies |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22789864 |
Yan et al. |
2012 |
Expression of apoptosis-related genes in the endometrium of polycystic ovary syndrome patients during the window of implantation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ITPR1 |
3708 |
Q14643 |
0.52 |
PPP1CA |
5499 |
P62136 |
0.52 |
PPP1CB |
5500 |
P62140 |
0.52 |
PPP1CC |
5501 |
P36873 |
0.52 |
PRKAR2B |
5577 |
P31323 |
0.52 |
RYR2 |
6262 |
Q92736 |
0.52 |
PRKAR2A |
5576 |
P13861 |
0.58 |
FKBP1A |
2280 |
P62942 |
0.63 |
RYR1 |
6261 |
P21817 |
0.73 |
CACNA1C |
775 |
Q13936 |
0.75 |
BST1 |
683 |
Q10588 |
0.00 |
CACNA1D |
776 |
Q01668 |
0.00 |
CD38 |
952 |
P28907 |
0.00 |
PRKX |
5613 |
P51817 |
0.00 |
CALM2 |
805 |
P62158 |
0.56 |
CALM3 |
808 |
P62158 |
0.56 |
CDK8 |
1024 |
P49336 |
0.63 |
HSPB2 |
3316 |
Q16082 |
0.63 |
SMAD5 |
4090 |
Q99717 |
0.63 |
SNTA1 |
6640 |
Q13424 |
0.63 |
TERF1 |
7013 |
P54274 |
0.63 |
TERF2 |
7014 |
Q15554 |
0.63 |
PRKACB |
5567 |
P22694 |
0.67 |
PRKACG |
5568 |
P22612 |
0.67 |
CFTR |
1080 |
P13569 |
0.72 |
ALB |
213 |
P02768 |
0.73 |
RYR3 |
6263 |
Q15413 |
0.73 |
SRI |
6717 |
P30626 |
0.73 |
MDM2 |
4193 |
Q00987 |
0.75 |
PRKACA |
5566 |
P17612 |
0.76 |
HOMER1 |
9456 |
Q86YM7 |
0.76 |
AKAP6 |
9472 |
Q13023 |
0.86 |
FKBP1B |
2281 |
P68106 |
0.90 |