FBLN5 and GSC

		FBLN5	GSC
Description		fibulin 5	goosecoid homeobox
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Extracellular Matrix Extracellular Exosome Elastic Fiber	Chromatin Nucleus Transcription Regulator Complex
	Molecular Function	Integrin Binding Calcium Ion Binding Protein Binding Extracellular Matrix Constituent Conferring Elasticity Protein Homodimerization Activity	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Cell Adhesion Cell-matrix Adhesion Negative Regulation Of Angiogenesis Extracellular Matrix Organization Positive Regulation Of Osteoblast Proliferation Protein Localization To Cell Surface Positive Regulation Of Transcription By RNA Polymerase II Secretion Elastic Fiber Assembly Intramembranous Bone Growth Regulation Of Removal Of Superoxide Radicals	Negative Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Gastrulation Anatomical Structure Morphogenesis Tissue Development Neural Crest Cell Fate Specification Wnt Signaling Pathway Dorsal/ventral Neural Tube Patterning Signal Transduction Involved In Regulation Of Gene Expression Negative Regulation Of Wnt Signaling Pathway Forebrain Development Middle Ear Morphogenesis Ear Development Animal Organ Development Muscle Organ Morphogenesis Embryonic Skeletal System Morphogenesis
Pathways		Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres	Germ layer formation at gastrulation Formation of definitive endoderm
Drugs
Diseases		Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
GWAS		Diastolic blood pressure ( 30578418) Gut microbiota (bacterial taxa, hurdle binary method) ( 32572223) HDL cholesterol levels x thiazide or thiazide-like diuretics use interaction ( 31806883) Heel bone mineral density ( 30598549) Height ( 18391951 25429064 31562340) Hip circumference adjusted for BMI ( 34021172) Major depressive disorder ( 34099189) Major depressive disorder x sex interaction ( 34099189) Optic disc size ( 31809533) Pulse pressure ( 27841878 30578418) Waist circumference adjusted for body mass index ( 28552196)	Chin dimples ( 27182965) Male-pattern baldness ( 28196072) Nonsyndromic cleft lip with cleft palate ( 28232668) Nose size ( 27182965)
Interacting Genes		13 interacting genes: ATN1 GFI1B HOXA1 LOXL1 LPA MEOX2 NUFIP2 OTX1 PAXIP1 PRNP SOD3 TOP3B TRIP13	4 interacting genes: FOXA2 SMAD1 SMAD2 SMAD3
Entrez ID		10516	145258
HPRD ID		05204	15928
Ensembl ID		ENSG00000140092	ENSG00000133937
Uniprot IDs		A0A024R6G3 A0A9L9PXD9 G3V2P8 G3V4U0 G3XA98 Q9UBX5	P56915
PDB IDs			2DMU
Enriched GO Terms of Interacting Partners?		Copper Ion Binding Nuclear Matrix Semicircular Canal Formation Sequence-specific Double-stranded DNA Binding Heparin Binding Plasma Lipoprotein Particle Diencephalon Morphogenesis Protein C Inhibitor-coagulation Factor V Complex Protein C Inhibitor-TMPRSS7 Complex Protein C Inhibitor-PLAU Complex Protein C Inhibitor-TMPRSS11E Complex Protease Binding Protein C Inhibitor-coagulation Factor Xa Complex Protein C Inhibitor-KLK3 Complex Protein C Inhibitor-plasma Kallikrein Complex Glycosaminoglycan Binding Protein C Inhibitor-thrombin Complex Protein C Inhibitor-coagulation Factor XI Complex Protein C Inhibitor-PLAT Complex Type 8 Metabotropic Glutamate Receptor Binding Dendritic Spine Organization Negative Regulation Of Interleukin-2 Production Positive Regulation Of Granzyme A Production Negative Regulation Of T-helper 1 Cell Activation Positive Regulation Of Immunoglobulin Mediated Immune Response Positive Regulation Of Immunoglobulin Production In Mucosal Tissue Mature Natural Killer Cell Chemotaxis RNA Topoisomerase Activity Regulation Of Long-term Synaptic Potentiation Neuron Projection Organization Negative Regulation Of Type II Interferon Production Postsynapse Organization	Heteromeric SMAD Protein Complex SMAD Protein Complex Primary MiRNA Processing Co-SMAD Binding I-SMAD Binding SMAD Protein Signal Transduction MiRNA Processing Homomeric SMAD Protein Complex Ureteric Bud Development Mesonephric Epithelium Development Mesonephric Tubule Development Paraxial Mesoderm Morphogenesis Embryonic Pattern Specification Negative Regulation Of Developmental Process Kidney Epithelium Development Mesoderm Morphogenesis Pericardium Development Trophoblast Cell Migration DNA-binding Transcription Activator Activity, RNA Polymerase II-specific Positive Regulation Of Transcription By RNA Polymerase II Transforming Growth Factor Beta Receptor Signaling Pathway DEAD/H-box RNA Helicase Binding Regulation Of Epithelial To Mesenchymal Transition Embryonic Foregut Morphogenesis Nodal Signaling Pathway Transforming Growth Factor Beta Receptor Binding Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription DNA-binding Transcription Factor Activity Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Negative Regulation Of Cell Differentiation Positive Regulation Of RNA Metabolic Process RNA Polymerase II-specific DNA-binding Transcription Factor Binding Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Tube Development Positive Regulation Of Nucleobase-containing Compound Metabolic Process R-SMAD Binding Epithelium Development Transcription Regulator Complex Embryonic Cranial Skeleton Morphogenesis Activin Receptor Signaling Pathway Regulation Of Osteoblast Proliferation Positive Regulation Of Cartilage Development Endoderm Development RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Ubiquitin Protein Ligase Binding Regulation Of Developmental Process Regulation Of Transcription By RNA Polymerase II Response To Growth Factor Negative Regulation Of Ossification
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