FBN2 and FBN1

Number of citations: 30 (PubMedID 10359653)
Data Source: HPRD (in vivo)

		FBN2	FBN1
Name		fibrillin 2	fibrillin 1
Structure		No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Extracellular Space Extracellular Matrix	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix
	Molecular Function	Hormone Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Extracellular Matrix Constituent Conferring Elasticity	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
	Biological Process	Placenta Development Glucose Metabolic Process Signal Transduction Embryonic Limb Morphogenesis Positive Regulation Of Bone Mineralization Limb Morphogenesis Sequestering Of TGFbeta In Extracellular Matrix Glucose Homeostasis Camera-type Eye Development Positive Regulation Of Osteoblast Differentiation Embryonic Eye Morphogenesis Bone Trabecula Formation Regulation Of Trophoblast Cell Migration	Skeletal System Development Metanephros Development Kidney Development Glucose Metabolic Process Signal Transduction Heart Development Gene Expression Protein Kinase A Signaling Lung Development Positive Regulation Of Appetite Cell Adhesion Mediated By Integrin Activation Of Protein Kinase A Activity Sequestering Of BMP In Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Glucose Homeostasis Camera-type Eye Development Negative Regulation Of Osteoclast Differentiation Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis Lung Alveolus Development Cellular Response To Transforming Growth Factor Beta Stimulus Cellular Response To Insulin-like Growth Factor Stimulus Negative Regulation Of Osteoclast Development
Pathways		Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres	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 TGF-beta receptor signaling activates SMADs Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
Drugs		Calcium citrate Calcium Phosphate Calcium phosphate dihydrate	None
Diseases		Congenital contractural arachnodactyly (CCA) ; Beals syndrome	Geleophysic dysplasia Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome Shprintzen-Goldberg syndrome Ectopia lentis MASS phenotype Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS
GWAS		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 ) Hip circumference adjusted for BMI ( 34021172 ) 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 ( 30578418 27841878 ) Refractive error ( 32231278 ) Response to fenofibrate (total cholesterol levels) ( 27002377 ) Severe aplastic anemia ( 32004448 ) Subcortical volume (MOSTest) ( 32665545 ) Systemic lupus erythematosus ( 32771030 ) Systolic blood pressure ( 30578418 28135244 27841878 ) Temperament ( 22832960 ) Waist circumference adjusted for body mass index ( 34021172 )	Breast cancer ( 17903305 ) Central corneal thickness ( 32528159 29760442 ) Height ( 32499652 31562340 ) Hepcidin/ferritin ratio ( 27846281 ) Hip circumference adjusted for BMI ( 34021172 28552196 ) Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) ( 27418160 ) Intraocular pressure ( 29617998 ) Macular thickness ( 30535121 ) Pulse pressure ( 28739976 30578418 27841878 ) 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 ) Waist circumference adjusted for body mass index ( 34021172 )
Interacting Genes		8 interacting genes: ELN FBN1 LTBP1 MATN2 MFAP2 MFAP5 SMAD2 THBS1	18 interacting genes: ATXN7 CALR DCN DYRK1A ELN FBLN2 FBN2 GET4 HGS HOXA1 HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN
Entrez ID		2201	2200
HPRD ID		00416	00618
Ensembl ID		ENSG00000138829	ENSG00000166147
Uniprot IDs		P35556	P35555
PDB IDs		Not available	1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9
GO Terms Enriched among Interactors		Extracellular Matrix Structural Constituent Microfibril Extracellular Matrix Sequestering Of TGFbeta In Extracellular Matrix Embryonic Eye Morphogenesis Embryonic Organ Morphogenesis Post-embryonic Eye Morphogenesis Fibrinogen Binding Animal Organ Morphogenesis Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Sequestering Of Extracellular Ligand From Receptor Eye Morphogenesis Extracellular Matrix Constituent Conferring Elasticity Extracellular Negative Regulation Of Signal Transduction Sensory Organ Morphogenesis Endoderm Formation Extracellular Region Ubiquitin-like Protein Transferase Activity Laminin Binding Transforming Growth Factor Beta Binding Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Cell Adhesion Mediated By Integrin Extracellular Matrix Binding Fibronectin Binding Response To Monosaccharide Regulation Of Cellular Response To Growth Factor Stimulus Regulation Of Response To Nutrient Levels Integrin Binding Cell Migration Regulation Of Smooth Muscle Cell Proliferation Aortic Valve Morphogenesis Negative Regulation Of Developmental Process Response To Carbohydrate Granulocyte Macrophage Colony-stimulating Factor Receptor Binding Histone H3K23ac Reader Activity	Microfibril Extracellular Matrix Extracellular Matrix Structural Constituent Extracellular Matrix Constituent Conferring Elasticity Extracellular Matrix Structural Constituent Conferring Compression Resistance Negative Regulation Of Supramolecular Fiber Organization Sequestering Of TGFbeta In Extracellular Matrix Embryonic Eye Morphogenesis Regulation Of Cellular Response To Growth Factor Stimulus Extracellular Matrix Binding Protein-folding Chaperone Binding Extracellular Region Regulation Of Supramolecular Fiber Organization Negative Regulation Of Vasculature Development Negative Regulation Of Angiogenesis Positive Regulation Of Mitochondrial Depolarization Negative Regulation Of Cytoskeleton Organization Sequestering Of Extracellular Ligand From Receptor Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Eye Morphogenesis Animal Organ Morphogenesis Extracellular Negative Regulation Of Signal Transduction Post-translational Protein Targeting To Endoplasmic Reticulum Membrane Sensory Organ Morphogenesis Positive Regulation Of Membrane Depolarization Calcium Ion Binding Negative Regulation Of Vascular Endothelial Growth Factor Signaling Pathway Maintenance Of Location Regulation Of Trophoblast Cell Migration Negative Regulation Of Cellular Response To Vascular Endothelial Growth Factor Stimulus Lysosomal Lumen Embryonic Morphogenesis Golgi Lumen Regulation Of Mitochondrial Depolarization Glycosaminoglycan Binding Negative Regulation Of Cellular Component Organization Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of Signal Transduction Positive Regulation Of Cell-substrate Adhesion Negative Regulation Of Cellular Response To Growth Factor Stimulus Embryonic Organ Morphogenesis Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Fibronectin Binding Protein Targeting To ER Regulation Of Cytoskeleton Organization Establishment Of Protein Localization To Endoplasmic Reticulum Regulation Of Vascular Endothelial Growth Factor Signaling Pathway Negative Regulation Of Cell Communication Negative Regulation Of Signaling Regulation Of Protein Metabolic Process