FBN1 and MYOC

Data Source:
HPRD (in vitro)

		FBN1	MYOC
Description		fibrillin 1	myocilin
Image
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Extracellular Space Mitochondrial Outer Membrane Mitochondrial Inner Membrane Mitochondrial Intermembrane Space Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Cilium Cytoplasmic Vesicle Node Of Ranvier Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	Integrin Binding Hormone Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Heparin Binding Extracellular Matrix Constituent Conferring Elasticity Identical Protein Binding Protein-containing Complex Binding	Fibronectin Binding Frizzled Binding Protein Binding Receptor Tyrosine Kinase Binding Myosin Light Chain Binding Metal Ion Binding
	Biological Process	Skeletal System Development Metanephros Development Signal Transduction Heart Development Anatomical Structure Morphogenesis Extracellular Matrix Organization Cell Adhesion Mediated By Integrin Sequestering Of BMP In Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Camera-type Eye Development Post-translational Protein Modification Cellular Protein Metabolic Process Negative Regulation Of Osteoclast Differentiation Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis Cellular Response To Transforming Growth Factor Beta Stimulus Cellular Response To Insulin-like Growth Factor Stimulus Negative Regulation Of Osteoclast Development	Osteoblast Differentiation Negative Regulation Of Cell-matrix Adhesion Positive Regulation Of Phosphatidylinositol 3-kinase Signaling Skeletal Muscle Hypertrophy Myelination In Peripheral Nervous System Positive Regulation Of Cell Migration Neuron Projection Development Negative Regulation Of Rho Protein Signal Transduction Non-canonical Wnt Signaling Pathway Via JNK Cascade ERBB2-ERBB3 Signaling Pathway Regulation Of MAPK Cascade Clustering Of Voltage-gated Sodium Channels Positive Regulation Of Stress Fiber Assembly Negative Regulation Of Stress Fiber Assembly Positive Regulation Of Focal Adhesion Assembly Positive Regulation Of Protein Kinase B Signaling Positive Regulation Of Mitochondrial Depolarization Bone Development Positive Regulation Of Substrate Adhesion-dependent Cell Spreading
Pathways		Degradation of the extracellular matrix Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres Integrin cell surface interactions Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
Drugs
Diseases		Ectopia lentis Shprintzen-Goldberg syndrome MASS phenotype Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome Geleophysic dysplasia	Primary open angle glaucoma
GWAS		Breast cancer ( 17903305) Central corneal thickness ( 32528159 29760442) Height ( 31562340 32499652) Hepcidin/ferritin ratio ( 27846281) Hip circumference adjusted for BMI ( 28552196) Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) ( 27418160) Intraocular pressure ( 29617998) Macular thickness ( 30535121) Pulse pressure ( 27841878 28739976 30578418) Pulse pressure x alcohol consumption interaction (2df test) ( 29912962) Refractive error ( 32231278) Spherical equivalent (joint analysis main effects and education interaction) ( 27020472) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Spontaneous coronary artery dissection ( 32374345) Systolic blood pressure ( 27841878 30578418) Systolic blood pressure x alcohol consumption interaction (2df test) ( 29912962) Thoracic aortic aneurysms and dissections ( 21909107)	Cognitive decline rate in late mild cognitive impairment ( 26252872) Glaucoma ( 30104761) Intake of total sugars ( 31005972)
Interacting Genes		16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	41 interacting genes: A2M ACTA2 ACTB ACTG1 ALDOA ANXA2 C1QB CAP1 CD81 CKM CLIC1 COL1A2 COL3A1 ECE1 EEF1A1 ENO1 FBN1 FN1 FTL FUBP1 GAPDH GGTLC1 HAGH IGLL1 ITGA7 LAMA5 LGALS3 MAEA MYL2 NOTCH2 OLFM3 OLFML3 PKLR PKM RFC1 SERPINF1 SGTA TGFBR1 TIMP1 TKT TNFRSF1A
Entrez ID		2200	4653
HPRD ID		00618	03387
Ensembl ID		ENSG00000166147	ENSG00000034971
Uniprot IDs		P35555	A0A0S2Z421 Q99972
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	4WXQ 4WXS 4WXU 6OU0 6OU1 6OU2 6OU3 6PKD 6PKE 6PKF
Enriched GO Terms of Interacting Partners?
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