USH2A and COL4A3

Data Source:
HPRD (in vivo)

		USH2A	COL4A3
Description		usherin	collagen type IV alpha 3 chain
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Inner Segment Stereocilia Ankle Link Stereocilia Ankle Link Complex Basement Membrane Cytoplasm Integral Component Of Membrane Apical Plasma Membrane Photoreceptor Connecting Cilium Stereocilium Bundle Ciliary Basal Body Neuronal Cell Body Terminal Bouton Stereocilium Membrane Periciliary Membrane Compartment USH2 Complex	Extracellular Region Collagen Type IV Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Endoplasmic Reticulum Lumen Extracellular Matrix Intracellular Membrane-bounded Organelle Collagen-containing Extracellular Matrix
	Molecular Function	Protein Binding Collagen Binding Myosin Binding Identical Protein Binding	Integrin Binding Structural Molecule Activity Extracellular Matrix Structural Constituent Protein Binding Metalloendopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Visual Perception Sensory Perception Of Sound Animal Organ Morphogenesis Tissue Development Cell Migration Substrate Adhesion-dependent Cell Spreading Hair Cell Differentiation Establishment Of Protein Localization Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Response To Stimulus Sensory Perception Of Light Stimulus Inner Ear Receptor Cell Differentiation	Activation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Cell Adhesion Cell Surface Receptor Signaling Pathway Sensory Perception Of Sound Blood Circulation Negative Regulation Of Cell Population Proliferation Response To Glucose Negative Regulation Of Endopeptidase Activity Negative Regulation Of Angiogenesis Extracellular Matrix Organization Glomerular Basement Membrane Development Collagen-activated Tyrosine Kinase Receptor Signaling Pathway Endothelial Cell Apoptotic Process Negative Regulation Of Vascular Endothelial Cell Proliferation
Pathways			Collagen degradation Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Integrin cell surface interactions Anchoring fibril formation Crosslinking of collagen fibrils Laminin interactions Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans NCAM1 interactions Collagen chain trimerization
Drugs
Diseases		Usher syndrome (US) Retinitis pigmentosa (RP)	Benign familial hematuria; Thin basement membrane nephropathy Alport syndrome
GWAS		Birth weight ( 31043758) Cholesterol ( 31902109) Chronic mucus hypersecretion ( 25234806) Gut microbiota (bacterial taxa, hurdle binary method) ( 32572223) Prepulse inhibition of the startle response ( 31596458)	Advanced age-related macular degeneration ( 26691988) Central corneal thickness ( 32528159 31798171 29760442) Corneal structure ( 23291589) Diabetic nephropathy in type 1 diabetes ( 31537649) Hematuria ( 30476138) Hematuria (moderate to severe) ( 30476138) Intraocular pressure ( 29235454) Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes ( 31537649) Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes ( 31537649) Macroalbuminuria in type 1 diabetes ( 31537649) Macular thickness ( 30535121) Metabolite levels (5-HIAA/ MHPG Ratio) ( 23319000) Refractive error ( 32231278) Resting heart rate ( 27798624)
Interacting Genes		3 interacting genes: BRCA1 COL4A3 KRT18	17 interacting genes: ANTXR2 APP CAMK2B CD93 CERT1 DCN FBLN2 FN1 HABP2 MATN2 MFAP2 MMP9 OSM SAA1 SERPINE2 TGFBI USH2A
Entrez ID		7399	1285
HPRD ID		09759	00354
Ensembl ID		ENSG00000042781	ENSG00000169031
Uniprot IDs		O75445	Q01955
PDB IDs			5NB0
Enriched GO Terms of Interacting Partners?
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