FBN1 and ATXN7

Data Source:
BioGRID (two hybrid)

		FBN1	ATXN7
Description		fibrillin 1	ataxin 7
Image
GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Collagen-containing Extracellular Matrix	Nucleus Nucleoplasm Nucleolus Cytosol Microtubule Cytoskeleton Nuclear 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	Protein 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	Microtubule Cytoskeleton Organization Nucleus Organization Negative Regulation Of Microtubule Depolymerization Visual Perception Histone Deubiquitination Protein Deubiquitination
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	HATs acetylate histones Ub-specific processing proteases
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	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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)	anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Diastolic blood pressure ( 30224653) Estimated glomerular filtration rate ( 31152163) Red cell distribution width ( 32888494) Refractive error ( 32231278) Schizophrenia ( 28991256 25056061 29483656) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Type 2 diabetes ( 30054458)
Interacting Genes		16 interacting genes: ATXN7 CALR DCN ELN FBLN2 FBN2 GET4 HGS HSPG2 LTBP1 MFAP2 MFAP5 MYOC SGTB SPRY2 VCAN	59 interacting genes: ACTN1 ACTN2 ACTN4 ADAM33 AGRN CARD10 CEP70 CEP72 COG6 CRIM1 CRX EFEMP1 EFEMP2 FBN1 FN1 GOLGA2 GOLGA3 GPRASP1 GRN ITPRID2 JAG2 KALRN KAT2A LAMB1 LAMB2 LRSAM1 LTBP4 MATN2 MEGF6 MPRIP NELL1 NELL2 NOC2L NUP62 PICK1 PNMA1 PPP1R12C PSMC1 RABEP1 RAD23A RNF31 SIAH1 SNX1 SPRY1 SUMO1 SUMO2 TAF10 THY1 TP53BP2 TRAF2 TRIM23 TRIM27 TRIM54 TRRAP TXNDC11 UBQLN2 USP22 VCP VWF
Entrez ID		2200	6314
HPRD ID		00618	06365
Ensembl ID		ENSG00000166147	ENSG00000163635
Uniprot IDs		P35555	O15265 Q9UPD8
PDB IDs		1APJ 1EMN 1EMO 1LMJ 1UZJ 1UZK 1UZP 1UZQ 2M74 2W86 5MS9	2KKR
Enriched GO Terms of Interacting Partners?
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