JPH2 and SLC12A5

		JPH2	SLC12A5
Description		junctophilin 2	solute carrier family 12 member 5
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GO Annotations	Cellular Component	Nucleus Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane Junctional Sarcoplasmic Reticulum Membrane Membrane Sarcoplasmic Reticulum Z Disc Junctional Membrane Complex Sarcoplasmic Reticulum Membrane	Plasma Membrane Membrane Dendrite Dendrite Membrane Cell Projection Neuron Projection Neuronal Cell Body Perikaryon Cell Periphery Glutamatergic Synapse Postsynaptic Specialization Membrane
	Molecular Function	Core Promoter Sequence-specific DNA Binding DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific Phosphatidylserine Binding DNA Binding Protein Binding Phosphatidylinositol-4,5-bisphosphate Binding Phosphatidylinositol-3,4,5-trisphosphate Binding Phosphatidylinositol-5-phosphate Binding Phosphatidylinositol-3-phosphate Binding Phosphatidylinositol-4-phosphate Binding Phosphatidic Acid Binding Phosphatidylinositol-3,5-bisphosphate Binding	Ammonium Channel Activity Chloride Transmembrane Transporter Activity Symporter Activity Chloride:monoatomic Cation Symporter Activity Potassium:chloride Symporter Activity Protein Kinase Binding Transmembrane Transporter Activity Metal Ion Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Cytosolic Calcium Ion Concentration Regulation Of Release Of Sequestered Calcium Ion Into Cytosol By Sarcoplasmic Reticulum Regulation Of Cardiac Muscle Contraction By Calcium Ion Signaling Negative Regulation Of DNA-templated Transcription Regulation Of Cardiac Muscle Tissue Development Calcium Ion Homeostasis Positive Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Calcium Ion Transport Into Cytosol	Monoatomic Ion Transport Potassium Ion Transport Chloride Transport Cell Volume Homeostasis Hypotonic Response Chemical Synaptic Transmission Learning Response To Xenobiotic Stimulus Intracellular Chloride Ion Homeostasis Developmental Process Multicellular Organism Growth Thermosensory Behavior Intracellular PH Reduction Chloride Ion Homeostasis Potassium Ion Homeostasis Transmembrane Transport Dendritic Spine Development Potassium Ion Transmembrane Transport Ammonium Transmembrane Transport Postsynaptic Neurotransmitter Receptor Diffusion Trapping Regulation Of Postsynapse Assembly Chloride Transmembrane Transport Potassium Ion Import Across Plasma Membrane
Pathways			Cation-coupled Chloride cotransporters
Drugs			Potassium chloride Bumetanide
Diseases
GWAS		Appendicular lean mass ( 33097823) Attention deficit hyperactivity disorder (inattention symptoms) ( 32595297) Cervical high-risk human papilloma virus infection (persistent) ( 33225922) Clozapine-induced agranulocytosis ( 25187353) Glomerular filtration rate (creatinine) ( 26831199) Lymphocyte count ( 32888494) Lymphocyte percentage of white cells ( 32888494 27863252) Mean arterial pressure ( 29403010 30487518) Medication use (agents acting on the renin-angiotensin system) ( 31015401) Medication use (calcium channel blockers) ( 31015401) Medication use (diuretics) ( 31015401) Neutrophil percentage of white cells ( 27863252 32888494) Plateletcrit ( 32888494) Pulse pressure ( 30578418 27841878) Systolic blood pressure ( 30578418 30487518 29403010 27841878)	Chronotype ( 30696823) Crohn's disease ( 28067908) General risk tolerance (MTAG) ( 30643258) Inflammatory bowel disease ( 28067908) Liver enzyme levels (alkaline phosphatase) ( 33972514) Response to antidepressants (symptom improvement) ( 33589590) Reticulocyte count ( 32888494) Systemic sclerosis ( 29293537) Triglyceride levels ( 32154731)
Interacting Genes		1 interacting genes: CAV3	2 interacting genes: CCR4 F2RL1
Entrez ID		57158	57468
HPRD ID		12006	09469
Ensembl ID		ENSG00000149596	ENSG00000124140
Uniprot IDs		Q86VZ3 Q9BR39	Q9H2X9
PDB IDs		7RXE 7RXQ	6M23 7D8Z
Enriched GO Terms of Interacting Partners?		Regulation Of Nerve Growth Factor Receptor Activity Negative Regulation Of Sarcomere Organization Regulation Of Signal Transduction By Receptor Internalization Regulation Of Cell Size Negative Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Thermosensory Behavior Regulation Of Ventricular Cardiac Muscle Cell Membrane Depolarization Monoatomic Ion Homeostasis Localization Within Membrane Regulation Of Caveolin-mediated Endocytosis Connexin Binding Intracellular Monoatomic Cation Homeostasis Caveola Assembly Positive Regulation Of Caveolin-mediated Endocytosis Potassium Channel Inhibitor Activity Inorganic Ion Homeostasis Plasma Membrane Raft Assembly Detection Of Muscle Stretch Monoatomic Cation Homeostasis Negative Regulation Of Cell Size Regulation Of Branching Involved In Mammary Gland Duct Morphogenesis Regulation Of Cellular Component Size Intracellular Chemical Homeostasis Intracellular Monoatomic Ion Homeostasis Regulation Of Cardiac Muscle Cell Action Potential Involved In Regulation Of Contraction Metal Ion Transport Regulation Of Membrane Depolarization During Action Potential T-tubule Organization Cellular Response To Ionomycin Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Regulation Of Sarcomere Organization Postsynaptic Neurotransmitter Receptor Diffusion Trapping Ammonium Transmembrane Transport Ammonium Channel Activity Potassium:chloride Symporter Activity Chloride:monoatomic Cation Symporter Activity Receptor Diffusion Trapping Intracellular Chloride Ion Homeostasis Nitric-oxide Synthase Binding Negative Regulation Of Protein Localization To Cell Surface Cellular Homeostasis Cellular Response To Ether Import Into Cell Hypotonic Response Membrane Raft Assembly Negative Regulation Of Cell Growth Involved In Cardiac Muscle Cell Development Positive Regulation Of Myotube Differentiation Heart Trabecula Formation Plasma Membrane Raft Organization Dendritic Spine Development	Positive Regulation Of Cytosolic Calcium Ion Concentration Phosphatidylinositol-3,5-bisphosphate Binding Positive Regulation Of Neutrophil Mediated Killing Of Gram-negative Bacterium Positive Regulation Of Renin Secretion Into Blood Stream Histone H1 Reader Activity Positive Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Proteinase-activated Receptor Activity Positive Regulation Of Glomerular Filtration Regulation Of Renin Secretion Into Blood Stream Positive Regulation Of Eosinophil Degranulation Negative Regulation Of Toll-like Receptor 3 Signaling Pathway Regulation Of Neutrophil Mediated Killing Of Gram-negative Bacterium Chromatin Lock Complex SAM Domain Binding UDP-glucose Transmembrane Transport Calcium-mediated Signaling Positive Regulation Of Toll-like Receptor 3 Signaling Pathway Mature Conventional Dendritic Cell Differentiation Regulation Of Neutrophil Mediated Cytotoxicity Negative Regulation Of Macromolecule Metabolic Process Regulation Of System Process Positive Regulation Of Killing Of Cells Of Another Organism Thrombin-activated Receptor Activity Regulation Of Muscle Contraction Z Disc Histone H4K20me2 Reader Activity Protein O-linked Glycosylation Via Fucose Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Junctional Membrane Complex Regulation Of Cardiac Muscle Tissue Development
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