NPHP3

Description		nephrocystin 3
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium
	Molecular Function	Protein Binding
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Determination Of Left/right Symmetry Wnt Signaling Pathway Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity 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 Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Regulation Of Planar Cell Polarity Pathway Involved In Neural Tube Closure
Pathways		Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Senior-Loken syndrome Renal-hepatic-pancreatic dysplasia Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome
GWAS		Blood protein levels ( 28240269) 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) ( 27182965 21102462) Subcortical volume (MOSTest) ( 32665545)
Novel Interacting Genes		15 novel interacting genes: ANAPC13 ASTE1 CCDC50 CDV3 COL7A1 DDX3Y DNAJC13 DPP7 EPC1 NAA50 PARP14 PIK3R4 PPP2R3A RAB6B TOPBP1
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1
Entrez ID		27031
HPRD ID		06417
Ensembl ID		ENSG00000113971
Uniprot IDs		Q7Z494
PDB IDs		5L7K
Enriched GO Terms of Interacting Partners?
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