FBN2 and CMBL

		FBN2	CMBL
Description		fibrillin 2	carboxymethylenebutenolidase homolog
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Microfibril Extracellular Region Extracellular Space Extracellular Matrix	Cytoplasm Cytosol Extracellular Exosome
	Molecular Function	Hormone Activity Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Extracellular Matrix Constituent Conferring Elasticity	Hydrolase Activity
	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	Xenobiotic Metabolic Process
Pathways		Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres	Phase I - Functionalization of compounds
Drugs		Calcium citrate Calcium Phosphate Calcium phosphate dihydrate
Diseases		Congenital contractural arachnodactyly (CCA) ; Beals syndrome
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)	Metabolite levels ( 23823483)
Interacting Genes		8 interacting genes: ELN FBN1 LTBP1 MATN2 MFAP2 MFAP5 SMAD2 THBS1
Entrez ID		2201	134147
HPRD ID		00416	14055
Ensembl ID		ENSG00000138829	ENSG00000164237
Uniprot IDs		P35556	Q96DG6
PDB IDs
Enriched GO Terms of Interacting Partners?		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	Sequestering Of Extracellular Ligand From Receptor Sequestering Of TGFbeta In Extracellular Matrix Extracellular Negative Regulation Of Signal Transduction Extracellular Matrix Constituent Conferring Elasticity Bone Trabecula Formation Microfibril Regulation Of Trophoblast Cell Migration Embryonic Eye Morphogenesis Positive Regulation Of Bone Mineralization Placenta Development Positive Regulation Of Biomineral Tissue Development Positive Regulation Of Ossification Positive Regulation Of Osteoblast Differentiation Eye Morphogenesis Embryonic Limb Morphogenesis Regulation Of Bone Mineralization Sensory Organ Morphogenesis Camera-type Eye Development Maintenance Of Protein Location Maintenance Of Location Limb Morphogenesis Regulation Of Ossification Embryonic Organ Morphogenesis Eye Development Glucose Metabolic Process Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Hormone Activity Extracellular Matrix Structural Constituent Regulation Of Osteoblast Differentiation Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Negative Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Hexose Metabolic Process Sensory Organ Development Monosaccharide Metabolic Process Carbohydrate Homeostasis Glucose Homeostasis Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Regulation Of Cellular Response To Growth Factor Stimulus Carbohydrate Metabolic Process Embryonic Morphogenesis Extracellular Matrix
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