PKD2

Gene Name		polycystic kidney disease 2 (autosomal dominant)
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Gene Ontology Annotations	Cellular Component	Polycystin Complex Cytoplasm Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane Integral Component Of Plasma Membrane Cell-cell Junction Cilium Basal Plasma Membrane Lamellipodium Motile Primary Cilium Nonmotile Primary Cilium Filamentous Actin Ciliary Basal Body Basal Cortex Ciliary Membrane Extracellular Vesicular Exosome Integral Component Of Cytoplasmic Side Of Endoplasmic Reticulum Membrane Integral Component Of Lumenal Side Of Endoplasmic Reticulum Membrane Mitotic Spindle
	Molecular Function	Receptor Binding Voltage-gated Ion Channel Activity Voltage-gated Calcium Channel Activity Voltage-gated Sodium Channel Activity Potassium Channel Activity Calcium Ion Binding Protein Binding Cytoskeletal Protein Binding Voltage-gated Cation Channel Activity Identical Protein Binding Protein Homodimerization Activity Actinin Binding HLH Domain Binding Ion Channel Binding Calcium-induced Calcium Release Activity ATPase Binding Phosphoprotein Binding Muscle Alpha-actinin Binding
	Biological Process	Branching Involved In Ureteric Bud Morphogenesis Liver Development Embryonic Placenta Development Heart Looping Detection Of Nodal Flow Calcium Ion Transport Cell Cycle Arrest JAK-STAT Cascade Determination Of Left/right Symmetry Heart Development Negative Regulation Of Cell Proliferation Spinal Cord Development Neural Tube Development Regulation Of CAMP Metabolic Process Positive Regulation Of Inositol 1,4,5-trisphosphate-sensitive Calcium-release Channel Activity Positive Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity Involved In G1/S Transition Of Mitotic Cell Cycle Cellular Response To Reactive Oxygen Species Metanephric Part Of Ureteric Bud Development Sodium Ion Transmembrane Transport Aorta Development Regulation Of Cell Proliferation Cytoplasmic Sequestering Of Transcription Factor Positive Regulation Of Nitric Oxide Biosynthetic Process Positive Regulation Of Transcription From RNA Polymerase II Promoter Detection Of Mechanical Stimulus Release Of Sequestered Calcium Ion Into Cytosol Centrosome Duplication Negative Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Placenta Blood Vessel Development Renal Tubule Morphogenesis Renal Artery Morphogenesis Calcium Ion Transmembrane Transport Positive Regulation Of Cell Cycle Arrest Cellular Response To Hydrostatic Pressure Cellular Response To Osmotic Stress Cellular Response To Fluid Shear Stress Potassium Ion Transmembrane Transport Determination Of Liver Left/right Asymmetry Metanephric Mesenchyme Development Mesonephric Tubule Development Mesonephric Duct Development Metanephric Smooth Muscle Tissue Development Metanephric Cortex Development Metanephric Ascending Thin Limb Development Metanephric Cortical Collecting Duct Development Metanephric Distal Tubule Development Metanephric S-shaped Body Morphogenesis Regulation Of Calcium Ion Import Negative Regulation Of G1/S Transition Of Mitotic Cell Cycle
Pathways		Cargo trafficking to the periciliary membrane Organelle biogenesis and maintenance VxPx cargo-targeting to cilium Assembly of the primary cilium
Drugs
Diseases
GWAS		Dental caries ( 23064961)
Protein-protein Interactions		15 interactors: ACTN2 CD2AP DIAPH1 HAX1 KRT40 KRTAP10-3 KRTAP10-8 MAGEA8 PACS1 PACS2 PKD1 PLSCR1 TNNI3 TPM1 TRPC1
Entrez ID		5311
HPRD ID		01437
Ensembl ID		ENSG00000118762
Uniprot IDs		Q13563 Q9UEU6
PDB IDs		2KLD 2KLE 2KQ6 2Y4Q 3HRN 3HRO
Enriched GO Terms of Interacting Partners?		Actin-myosin Filament Sliding Muscle Filament Sliding Regulation Of ATPase Activity Actin-mediated Cell Contraction Actin Filament-based Movement Regulation Of Cellular Localization Endomembrane System Organization Regulation Of Intracellular Transport Regulation Of Cytoskeleton Organization Positive Regulation Of ATPase Activity Cell Projection Organization Muscle Contraction Plasma Membrane Organization Regulation Of Actin Cytoskeleton Reorganization Protein Targeting To Plasma Membrane Actin Filament-based Process Ventricular Cardiac Muscle Tissue Morphogenesis Muscle System Process Cardiac Muscle Contraction Ventricular Cardiac Muscle Tissue Development Cardiac Muscle Tissue Morphogenesis Cellular Calcium Ion Homeostasis Calcium Ion Homeostasis Muscle Tissue Morphogenesis Heart Contraction Regulation Of Protein Localization Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Movement Of Cell Or Subcellular Component Metanephric Distal Tubule Morphogenesis Positive Regulation Of Heart Rate By Epinephrine Muscle Organ Morphogenesis Cardiac Ventricle Morphogenesis Regulation Of Actin Cytoskeleton Organization Positive Regulation Of Peptidyl-serine Phosphorylation Regulation Of Calcium Ion Transport Into Cytosol Establishment Of Protein Localization To Plasma Membrane Striated Muscle Contraction Regulation Of Organelle Organization Positive Regulation Of Organelle Organization Regulation Of Actin Filament-based Process Cellular Metal Ion Homeostasis Protein Kinase D Signaling Regulation Of Systemic Arterial Blood Pressure By Ischemic Conditions Regulation Of Systemic Arterial Blood Pressure Cellular Cation Homeostasis Regulation Of Peptidyl-serine Phosphorylation Cellular Ion Homeostasis Cardiac Ventricle Development Metal Ion Homeostasis Positive Regulation Of DNA Topoisomerase (ATP-hydrolyzing) Activity
Tagcloud ?		acts adpkd autosomal chaperone coil coiled complexing determinant disrupted distal glycoform gps heterozygotes illustrating inherited interbreeding maturation mature missense nephropathy nonequimolar pathogenic pc1 pc2 pkd1 polycystic polycystin progressive severity