Protein Description

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

No tissues found.

No databases found.

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