FBN1 and FBN2

Data Source:
HPRD (in vivo)

		FBN1	FBN2
Description		fibrillin 1	fibrillin 2
Image			No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Microfibril Extracellular Region Extracellular Matrix Collagen-containing Extracellular Matrix
	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	Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Extracellular Matrix Constituent Conferring Elasticity
	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	Anatomical Structure Morphogenesis Extracellular Matrix Organization Embryonic Limb Morphogenesis Positive Regulation Of Bone Mineralization Sequestering Of TGFbeta In Extracellular Matrix Camera-type Eye Development Positive Regulation Of Osteoblast Differentiation Embryonic Eye Morphogenesis Bone Trabecula Formation
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	Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs			Calcium citrate Calcium Phosphate Calcium phosphate dihydrate
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	Congenital contractural arachnodactyly (CCA) ; Beals syndrome
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)	Atrial fibrillation ( 29892015) Beard thickness ( 26926045) Brain morphology (MOSTest) ( 32665545) Breastfeeding duration ( 25475840) Central corneal thickness ( 32528159) Cortical surface area (MOSTest) ( 32665545) Diastolic blood pressure ( 27841878) Heel bone mineral density ( 30598549) Height ( 21998595 31562340) Heschl's gyrus morphology ( 25130324) Intraocular pressure ( 29617998) Medication use (beta blocking agents) ( 31015401) Medication use (calcium channel blockers) ( 31015401) Medication use (diuretics) ( 31015401) Multiple system atrophy ( 27629089) Night sleep phenotypes ( 27126917) Obesity (extreme) ( 19553259) Pulse pressure ( 27841878 30578418) Refractive error ( 32231278) Response to fenofibrate (total cholesterol levels) ( 27002377) Severe aplastic anemia ( 32004448) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 28135244 27841878 30578418) Temperament ( 22832960)
Interacting Genes		16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	7 interacting genes: ELN FBN1 LTBP1 MATN2 MFAP2 MFAP5 SMAD2
Entrez ID		2200	2201
HPRD ID		00618	00416
Ensembl ID		ENSG00000166147	ENSG00000138829
Uniprot IDs		P35555	P35556
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
Enriched GO Terms of Interacting Partners?
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