NPHP3 and PPP2R3A

		NPHP3	PPP2R3A
Description		nephrocystin 3	protein phosphatase 2 regulatory subunit B''alpha
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Protein Phosphatase Type 2A Complex
	Molecular Function	Protein Binding	Calcium Ion Binding Protein Binding Protein Phosphatase Regulator Activity Protein-macromolecule Adaptor Activity Metal Ion Binding
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Lipid Metabolic Process Establishment Or Maintenance Of Cell Polarity Determination Of Left/right Symmetry Wnt Signaling Pathway Extracellular Matrix Organization Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Non-motile Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway	Eye Photoreceptor Cell Differentiation Somitogenesis Protein Dephosphorylation Somatic Muscle Development Positive Regulation Of Protein Catabolic Process Regulation Of Canonical Wnt Signaling Pathway Somite Development Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Cell Migration Involved In Somitogenic Axis Elongation Positive Regulation Of Canonical Wnt Signaling Pathway
Pathways		Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Renal-hepatic-pancreatic dysplasia Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome
GWAS		Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 21102462 27182965) Serum alkaline phosphatase levels ( 33547301) Subcortical volume (MOSTest) ( 32665545)	Anticoagulant levels ( 22216198) Atrial fibrillation ( 30061737) Autism spectrum disorder or schizophrenia ( 28540026) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Feeling nervous ( 29500382) Feeling worry ( 29500382) Fibrinogen levels ( 26561523 28107422) General factor of neuroticism ( 30867560) High density lipoprotein cholesterol levels ( 31928498) Intraocular pressure ( 29617998) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Myocardial infarction ( 33532862) Neurofibrillary tangles ( 31497858) Neutrophil percentage of white cells ( 32888494) Schizophrenia ( 25056061 29483656) Small cell lung carcinoma ( 28604730) Systolic blood pressure ( 31928498) Triglyceride levels ( 31928498) Waist circumference ( 31928498) Waist circumference adjusted for body mass index ( 25673412 34021172) Worry too long after an embarrassing experience ( 29500382)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	8 interacting genes: AKAP9 ATR ATXN7L2 CDC6 HMGB1 PPP5C PTPA RBL1
Entrez ID		27031	5523
HPRD ID		06417	09225
Ensembl ID		ENSG00000113971	ENSG00000073711
Uniprot IDs		Q7Z494	Q06190
PDB IDs		5L7K	4I5J 4I5K
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	Negative Regulation Of DNA Replication Double-strand Break Repair Negative Regulation Of Mitotic Cell Cycle Phase Transition Negative Regulation Of Cell Cycle Phase Transition Negative Regulation Of Mitotic Cell Cycle Establishment Of Protein-containing Complex Localization To Telomere Regulation Of DNA Metabolic Process ATR-ATRIP Complex Histone H2AXS139 Kinase Activity Regulation Of Mitotic Cell Cycle Negative Regulation Of G2/M Transition Of Mitotic Cell Cycle DNA Metabolic Process Mitotic G2/M Transition Checkpoint Establishment Of RNA Localization To Telomere Negative Regulation Of Cell Cycle Process Regulation Of Cell Cycle G2/M Phase Transition Negative Regulation Of Cell Cycle G2/M Phase Transition Negative Regulation Of Cell Cycle DNA Repair Regulation Of Mitotic Cell Cycle Phase Transition Regulation Of DNA Replication Regulation Of Protein-containing Complex Assembly Regulation Of Cell Cycle Phase Transition Regulation Of G2/M Transition Of Mitotic Cell Cycle Positive Regulation Of Telomerase Catalytic Core Complex Assembly Traversing Start Control Point Of Mitotic Cell Cycle Cellular Response To Oxygen-containing Compound Regulation Of Mismatch Repair C-X-C Chemokine Binding Alphav-beta3 Integrin-HMGB1 Complex Calcium-dependent Protein Kinase Regulator Activity T-helper 1 Cell Activation Regulation Of Restriction Endodeoxyribonuclease Activity Negative Regulation Of RNA Polymerase II Transcription Preinitiation Complex Assembly Positive Regulation Of Mismatch Repair Plasmacytoid Dendritic Cell Activation Regulation Of Myeloid Progenitor Cell Differentiation Positive Regulation Of Glycogen Catabolic Process Positive Regulation Of Myeloid Progenitor Cell Differentiation Negative Regulation Of Apoptotic Cell Clearance Lung Development Protein Tyrosine Phosphatase Activator Activity Response To Arachidonate Positive Regulation Of Nuclear Receptor-mediated Glucocorticoid Signaling Pathway Peptidyl-serine Dephosphorylation Regulation Of Lipid Kinase Activity Dendritic Branch Maintenance Of Animal Organ Identity Ciliary Inversin Compartment Determination Of Stomach Left/right Asymmetry
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