FBN1 - Wiki-CORONA

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
ATXN7	ataxin 7	HATs acetylate histones Ub-specific processing proteases		Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
CALR	calreticulin	ER-Phagosome pathway Assembly of Viral Components at the Budding Site Scavenging by Class A Receptors Scavenging by Class A Receptors Scavenging by Class F Receptors Scavenging by Class F Receptors ATF6 (ATF6-alpha) activates chaperone genes Calnexin/calreticulin cycle Antigen Presentation: Folding, assembly and peptide loading of class I MHC	Antihemophilic factor, human recombinant Tenecteplase Melatonin Copper Calcium Citrate Calcium Phosphate
CCPG1	cell cycle progression 1
DCN	decorin	Degradation of the extracellular matrix A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis Dermatan sulfate biosynthesis CS/DS degradation ECM proteoglycans ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective CHST14 causes EDS, musculocontractural type Defective CHSY1 causes TPBS Defective B3GALT6 causes EDSP2 and SEMDJL1	Tromethamine	Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
ELN	elastin	Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres	Rofecoxib	Congenital supravalvar aortic stenosis 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
FBLN2	fibulin 2	Molecules associated with elastic fibres Molecules associated with elastic fibres
FBN2	fibrillin 2	Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres	Calcium Citrate Calcium Phosphate	Congenital contractural arachnodactyly (CCA) ; Beals syndrome
HSCB	HscB mitochondrial iron-sulfur cluster cochaperone	Mitochondrial protein import Mitochondrial protein import Mitochondrial iron-sulfur cluster biogenesis
HSPG2	heparan sulfate proteoglycan 2	Degradation of the extracellular matrix Degradation of the extracellular matrix A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis HS-GAG biosynthesis HS-GAG degradation Integrin cell surface interactions Laminin interactions Laminin interactions Non-integrin membrane-ECM interactions Non-integrin membrane-ECM interactions ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Defective B3GALT6 causes EDSP2 and SEMDJL1 Retinoid metabolism and transport Amyloid fiber formation	Palifermin	Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome; Simpson-Golabi-Behmel syndrome, type 1; Omodysplasia 1; Multiple exostoses
LTBP1	latent transforming growth factor beta binding protein 1	Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
MFAP2	microfibril associated protein 2	Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
MFAP5	microfibril associated protein 5	Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
MYO5C	myosin VC
MYOC	myocilin			Primary open angle glaucoma
PSMC3	proteasome 26S subunit, ATPase 3	Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha ER-Phagosome pathway Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Regulation of activated PAK-2p34 by proteasome mediated degradation Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome Degradation of GLI2 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK - noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases Neutrophil degranulation CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Regulation of expression of SLITs and ROBOs Interleukin-1 signaling Negative regulation of NOTCH4 signaling Antigen processing: Ubiquitination & Proteasome degradation	Phenethyl Isothiocyanate
RNF111	ring finger protein 111	Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Formation of Incision Complex in GG-NER Antigen processing: Ubiquitination & Proteasome degradation
SECISBP2L	SECIS binding protein 2 like
SLBP	stem-loop binding protein	Transport of the SLBP Dependant Mature mRNA RNA Polymerase II Transcription Termination SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
SPRY2	sprouty RTK signaling antagonist 2	Spry regulation of FGF signaling EGFR downregulation
SPTBN5	spectrin beta, non-erythrocytic 5	NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport
VCAN	versican	A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis Dermatan sulfate biosynthesis CS/DS degradation ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective CHST14 causes EDS, musculocontractural type Defective CHSY1 causes TPBS Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Defective B3GALT6 causes EDSP2 and SEMDJL1 Post-translational protein phosphorylation	Hyaluronic acid	Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)

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