JPH3

Description		junctophilin 3
Image		No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane Junctional Sarcoplasmic Reticulum Membrane Membrane Junctional Membrane Complex
	Molecular Function	Protein Binding
	Biological Process	Learning Memory Regulation Of Release Of Sequestered Calcium Ion Into Cytosol By Sarcoplasmic Reticulum Regulation Of Cardiac Muscle Contraction By Calcium Ion Signaling Exploration Behavior Locomotion Regulation Of Synaptic Plasticity Regulation Of Neuronal Synaptic Plasticity Neuromuscular Process Controlling Balance Calcium Ion Transport Into Cytosol
Pathways
Drugs
Diseases		Core neuroacanthocytosis syndromes, including: Chorea-acanthocytosis (ChAc); McLeod syndrome (MLS); Huntington's disease-like 2 (HDL2); Pantothenate kinase associated neurodegeneration (PKAN)
GWAS		Dementia and core Alzheimer's disease neuropathologic changes ( 25188341) Femur bone mineral density x serum urate levels interaction ( 34046847) Height ( 28552196) Idiopathic dilated cardiomyopathy ( 29495422) Late-onset Alzheimer's disease ( 27770636) Migraine ( 27182965) Post bronchodilator FEV1 ( 26634245) Post bronchodilator FEV1/FVC ratio in smoking ( 30068317) Refractive error ( 32231278) Small vessel stroke ( 27997041) Systemic juvenile idiopathic arthritis ( 27927641)
Interacting Genes		11 interacting genes: BGN CACNA1D CCR2 KCNN4 KRTAP10-8 PPP1CA RSPH1 RYR2 SMAD3 SMO TSHR
Entrez ID		57338
HPRD ID		05589
Ensembl ID		ENSG00000154118
Uniprot IDs		B4DIC1 F8W9A3 Q8WXH2 Q96HD8
PDB IDs
Enriched GO Terms of Interacting Partners?		Epithelial Tube Morphogenesis Tube Morphogenesis Morphogenesis Of An Epithelium Embryonic Heart Tube Morphogenesis Protein Kinase A Catalytic Subunit Binding Tissue Morphogenesis Blood Vessel Remodeling Cytokine Binding Cell Communication Regulation Of Transport Regulation Of Membrane Potential Regulation Of Biological Quality Regulation Of Calcium Ion Transport Calcium Ion Transport Cardiac Muscle Cell Action Potential Involved In Contraction Signaling Cardiac Muscle Cell Action Potential Regulation Of Monoatomic Cation Transmembrane Transport Cellular Homeostasis Intermediate Conductance Calcium-activated Potassium Channel Activity Positive Regulation Of Protein Transport Protein Stabilization Negative Regulation Of Lung Blood Pressure Nuclear Mineralocorticoid Receptor Binding Positive Regulation Of Protein Import Into Nucleus Mesenchymal To Epithelial Transition Involved In Metanephric Renal Vesicle Formation Ventral Midline Determination Homeostasis Of Number Of Cells Within A Tissue Cellular Response To Thyrotropin-releasing Hormone Negative Regulation Of Eosinophil Degranulation Positive Regulation Of Astrocyte Chemotaxis T-helper 17 Cell Chemotaxis Chemokine (C-C Motif) Ligand 12 Binding Chemokine (C-C Motif) Ligand 2 Binding Regulation Of Monoatomic Ion Transmembrane Transport Homeostatic Process Regulation Of Protein Import Into Nucleus Positive Regulation Of Nucleocytoplasmic Transport Heart Looping Regulation Of Potassium Ion Transmembrane Transport Tissue Remodeling Calcium Ion Transmembrane Import Into Cytosol G Protein-coupled Receptor Signaling Pathway Calcium Channel Activity Positive Regulation Of Transport Regulation Of Potassium Ion Transport Regulation Of Metal Ion Transport Voltage-gated Calcium Channel Activity Involved SA Node Cell Action Potential Regulation Of Heart Rate Plasma Membrane
Tagcloud ?