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RYR2 and PSEN1
Data Source:
BioGRID
(pull down)
RYR2
PSEN1
Description
ryanodine receptor 2
presenilin 1
Image
GO Annotations
Cellular Component
Smooth Endoplasmic Reticulum
Plasma Membrane
Junctional Sarcoplasmic Reticulum Membrane
Membrane
Sarcoplasmic Reticulum
Z Disc
Cytoplasmic Vesicle Membrane
Protein-containing Complex
Sarcoplasmic Reticulum Membrane
Calcium Channel Complex
Sarcolemma
Golgi Membrane
Kinetochore
Nucleus
Nuclear Outer Membrane
Nucleoplasm
Mitochondrion
Mitochondrial Inner Membrane
Lysosomal Membrane
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Smooth Endoplasmic Reticulum
Rough Endoplasmic Reticulum
Golgi Apparatus
Centrosome
Plasma Membrane
Integral Component Of Plasma Membrane
Cell Cortex
Synaptic Vesicle
Cell Surface
Membrane
Integral Component Of Membrane
Aggresome
Apical Plasma Membrane
Z Disc
Cell Junction
Growth Cone
Neuromuscular Junction
Early Endosome Membrane
Nuclear Membrane
Protein-containing Complex
Ciliary Rootlet
Azurophil Granule Membrane
Sarcolemma
Neuron Projection
Neuronal Cell Body
Dendritic Shaft
Membrane Raft
Perinuclear Region Of Cytoplasm
Gamma-secretase Complex
Integral Component Of Presynaptic Membrane
Molecular Function
Ryanodine-sensitive Calcium-release Channel Activity
Calcium Channel Activity
Calcium Ion Binding
Protein Binding
Calmodulin Binding
Calcium-release Channel Activity
Enzyme Binding
Protein Kinase A Catalytic Subunit Binding
Protein Kinase A Regulatory Subunit Binding
Identical Protein Binding
Protein Self-association
Suramin Binding
Ion Channel Binding
Calcium-induced Calcium Release Activity
Endopeptidase Activity
Aspartic-type Endopeptidase Activity
Calcium Channel Activity
Protein Binding
Beta-catenin Binding
PDZ Domain Binding
Aspartic Endopeptidase Activity, Intramembrane Cleaving
Cadherin Binding
ATPase Binding
Growth Factor Receptor Binding
Biological Process
Response To Hypoxia
Regulation Of Heart Rate
Embryonic Heart Tube Morphogenesis
Left Ventricular Cardiac Muscle Tissue Morphogenesis
Cardiac Muscle Hypertrophy
Detection Of Calcium Ion
Calcium Ion Transport
Cellular Calcium Ion Homeostasis
Positive Regulation Of Heart Rate
Regulation Of Cardiac Muscle Contraction By Regulation Of The Release Of Sequestered Calcium Ion
Regulation Of Cardiac Muscle Contraction By Calcium Ion Signaling
Release Of Sequestered Calcium Ion Into Cytosol By Sarcoplasmic Reticulum
Response To Muscle Activity
Calcium-mediated Signaling
Response To Caffeine
Ion Transmembrane Transport
Calcium-mediated Signaling Using Intracellular Calcium Source
Response To Muscle Stretch
Release Of Sequestered Calcium Ion Into Cytosol
Positive Regulation Of Sequestering Of Calcium Ion
Regulation Of Cytosolic Calcium Ion Concentration
Response To Redox State
Regulation Of Cardiac Muscle Contraction
Cardiac Muscle Contraction
Calcium Ion Transport Into Cytosol
Sarcoplasmic Reticulum Calcium Ion Transport
Cellular Response To Caffeine
Cellular Response To Epinephrine Stimulus
Establishment Of Protein Localization To Endoplasmic Reticulum
Ventricular Cardiac Muscle Cell Action Potential
Purkinje Myocyte To Ventricular Cardiac Muscle Cell Signaling
Cell Communication By Electrical Coupling Involved In Cardiac Conduction
Type B Pancreatic Cell Apoptotic Process
Positive Regulation Of The Force Of Heart Contraction
Regulation Of AV Node Cell Action Potential
Regulation Of SA Node Cell Action Potential
Regulation Of Atrial Cardiac Muscle Cell Action Potential
Regulation Of Ventricular Cardiac Muscle Cell Action Potential
Positive Regulation Of ATPase-coupled Calcium Transmembrane Transporter Activity
Regulation Of Cardiac Conduction
Autophagosome Assembly
Negative Regulation Of Transcription By RNA Polymerase II
Activation Of MAPKK Activity
Blood Vessel Development
Cell Fate Specification
Somitogenesis
Neuron Migration
Positive Regulation Of Receptor Recycling
Heart Looping
Positive Regulation Of L-glutamate Import Across Plasma Membrane
Hematopoietic Progenitor Cell Differentiation
Astrocyte Activation Involved In Immune Response
T Cell Activation Involved In Immune Response
Neural Retina Development
Protein Glycosylation
Membrane Protein Ectodomain Proteolysis
Calcium Ion Transport
Mitochondrial Transport
Cellular Response To DNA Damage Stimulus
Response To Oxidative Stress
Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity
Notch Receptor Processing
Learning Or Memory
Memory
Post-embryonic Development
Regulation Of Gene Expression
Positive Regulation Of Gene Expression
Negative Regulation Of Gene Expression
Regulation Of Neuron Projection Development
Protein Transport
Choline Transport
Synaptic Vesicle Targeting
Protein Processing
Cerebellum Development
Cerebral Cortex Cell Migration
Cajal-Retzius Cell Differentiation
Dorsal/ventral Neural Tube Patterning
Embryonic Limb Morphogenesis
Membrane Protein Intracellular Domain Proteolysis
Positive Regulation Of Protein Binding
Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
Endoplasmic Reticulum Calcium Ion Homeostasis
Positive Regulation Of Tumor Necrosis Factor Production
Amyloid-beta Formation
Notch Receptor Processing, Ligand-dependent
Intracellular Signal Transduction
Positive Regulation Of Protein Import Into Nucleus
Regulation Of Phosphorylation
Positive Regulation Of Phosphorylation
Amyloid Precursor Protein Metabolic Process
Amyloid Precursor Protein Catabolic Process
Myeloid Dendritic Cell Differentiation
Positive Regulation Of Apoptotic Process
Negative Regulation Of Apoptotic Process
Positive Regulation Of Catalytic Activity
Neutrophil Degranulation
Positive Regulation Of MAP Kinase Activity
Negative Regulation Of Neuron Apoptotic Process
Skin Morphogenesis
Positive Regulation Of Glycolytic Process
Positive Regulation Of Transcription, DNA-templated
Ephrin Receptor Signaling Pathway
Astrocyte Activation
Regulation Of Synaptic Plasticity
Thymus Development
Neuron Development
Skeletal System Morphogenesis
Brain Morphogenesis
Amyloid-beta Metabolic Process
Epithelial Cell Proliferation
Negative Regulation Of Axonogenesis
Synapse Organization
Positive Regulation Of Coagulation
T Cell Receptor Signaling Pathway
Sequestering Of Calcium Ion
Neuron Apoptotic Process
Negative Regulation Of Ubiquitin-protein Transferase Activity
Smooth Endoplasmic Reticulum Calcium Ion Homeostasis
Regulation Of Synaptic Transmission, Glutamatergic
Regulation Of Resting Membrane Potential
Regulation Of Canonical Wnt Signaling Pathway
Positive Regulation Of Dendritic Spine Development
Calcium Ion Transmembrane Transport
Modulation Of Age-related Behavioral Decline
Cell-cell Adhesion
L-glutamate Import Across Plasma Membrane
Cellular Response To Amyloid-beta
Negative Regulation Of Core Promoter Binding
Negative Regulation Of Low-density Lipoprotein Receptor Activity
Positive Regulation Of Amyloid Fibril Formation
Neuron Projection Maintenance
Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process
Negative Regulation Of Apoptotic Signaling Pathway
Pathways
Stimuli-sensing channels
Ion homeostasis
Nuclear signaling by ERBB4
Degradation of the extracellular matrix
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
EPH-ephrin mediated repulsion of cells
Neutrophil degranulation
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH4 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3
Drugs
Flecainide
Tetracaine
Diseases
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Catecholaminergic polymorphic ventricular tachycardia
Acne inversa; Hidradenitis supprativa
Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
Alzheimer's disease (AD)
GWAS
Acute lymphoblastic leukemia (childhood) (
19684603
)
Bipolar disorder and eating disorder (
26433762
)
Cerivastatin-induced rhabdomyolysis (
21386754
)
Exercise treadmill test traits (
17903301
)
General risk tolerance (MTAG) (
30643258
)
Hippocampal volume (
31530798
)
Hypertension (
17554300
)
Lipid traits (
30576415
24386095
)
Lung function (FEV1) (
30061609
)
Lung function (FVC) (
30061609
)
Metabolite levels (
23823483
)
Obesity-related traits (
23251661
)
Postoperative stroke after cardiac surgery (
30678657
)
PR interval (
32439900
)
Response to taxane treatment (docetaxel) (
23006423
)
Smoking initiation (ever regular vs never regular) (
30679032
)
Apolipoprotein B levels (
32203549
)
Red cell distribution width (
32888494
)
Refractive error (
32231278
)
Reticulocyte fraction of red cells (
32888494
)
Interacting Genes
16 interacting genes:
AKAP6
ALB
CACNA1C
FKBP1B
HOMER1
HSPB2
ITPR1
LINC00839
MDM2
PRKACA
PRKAR2A
PSEN1
RYR1
RYR3
SMAD5
SRI
92 interacting genes:
ACTN1
AP1M2
APBA1
APH1A
APH1B
APOE
APP
BACE1
BCL2
BCL2L1
CASP1
CASP3
CASP4
CASP6
CASP7
CASP8
CDH1
CDK5
CFL1
CIB1
CTNNA1
CTNNB1
CTNND1
CTNND2
CYP2C18
CYP2C8
DLL1
DOCK3
ECSIT
EFHD1
EFNB2
ENSA
EPB41L3
ERN1
ETFA
FBXL12
FBXW7
FGF13
FLNA
FLNB
GAPDH
GCDH
GDI1
GFAP
GSK3B
HERPUD1
HMGB1
ICAM5
ITSN2
JUP
KANK2
KCNIP3
KCNIP4
MAPK9
MAPT
METTL2B
MTCH1
NCSTN
NOS3
NOTCH1
NOTCH2
NOTCH3
NOTCH4
OXCT1
PDCD4
PIK3R1
PKP4
PRAM1
PRDX2
PRKACA
PRKCZ
PSENEN
PSMA5
PSMB1
RAB11A
RAB3A
RAD23A
RHEB
RMDN3
RNF32
RYR2
SCAF11
SCN1A
SLC10A6
ST13
STAMBPL1
TCF7L2
TDP2
TUBA1B
UBQLN1
UMPS
YME1L1
Entrez ID
6262
5663
HPRD ID
01619
00087
Ensembl ID
ENSG00000198626
ENSG00000080815
Uniprot IDs
Q92736
A0A024R6A3
A0A0S2Z4D2
P49768
PDB IDs
4JKQ
6Y4O
6Y4P
2KR6
4UIS
5A63
5FN2
5FN3
5FN4
5FN5
6IDF
6IYC
Enriched GO Terms of Interacting Partners
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