ACAN

Description		aggrecan
Image
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Golgi Lumen Extracellular Matrix Lysosomal Lumen Synapse Perineuronal Net
	Molecular Function	Extracellular Matrix Structural Constituent Protein Binding Hyaluronic Acid Binding Extracellular Matrix Structural Constituent Conferring Compression Resistance Carbohydrate Binding Metal Ion Binding
	Biological Process	Skeletal System Development Proteolysis Cell Adhesion Central Nervous System Development
Pathways		Degradation of the extracellular matrix Degradation of the extracellular matrix Keratan sulfate biosynthesis Keratan sulfate degradation ECM proteoglycans Defective CHST6 causes MCDC1 Defective ST3GAL3 causes MCT12 and EIEE15 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Drugs		Ilomastat
Diseases		Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoarthritis Spondyloepiphyseal dysplasia, Kimberley type
GWAS		Age-related hearing impairment ( 27764096) Appendicular lean mass ( 33097823) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Body size at age 10 ( 32376654) Dupuytren's disease ( 28886342) Height ( 20881960 31562340 28552196 33713608 18391952 28270201 25429064 25282103 25133637 23563607 21998595) Hip circumference adjusted for BMI ( 34021172 25673412) Infant length ( 25281659) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for BMI in non-smokers ( 28443625) Waist circumference adjusted for body mass index ( 28448500 25673412 34021172)
Novel Interacting Genes		5 novel interacting genes: BLM IDH2 MAN2A2 SLCO3A1 STARD5
Interacting Genes		18 interacting genes: ADAMTS1 ADAMTS4 ADAMTS5 CTSB FBLN1 FBLN2 HAPLN1 LUM MMP1 MMP14 MMP19 MMP2 MMP20 MMP3 MMP8 PTPRF TNFAIP6 TNR
Entrez ID		176
HPRD ID		01123
Ensembl ID		ENSG00000157766
Uniprot IDs		A0A5K1VW97 P16112
PDB IDs		4MD4 7RDV
Enriched GO Terms of Interacting Partners?		Extracellular Matrix Extracellular Matrix Organization Extracellular Structure Organization Extracellular Matrix Disassembly Metalloendopeptidase Activity Collagen Catabolic Process Metallopeptidase Activity Collagen Metabolic Process Endopeptidase Activity Peptidase Activity Hydrolase Activity Extracellular Region Extracellular Space Serine-type Endopeptidase Activity Proteolysis Cellular Response To UV-A Ovulation From Ovarian Follicle Ovulation Cycle Process Response To UV-A Ovulation Protein Metabolic Process Fibronectin Binding Zinc Ion Binding Endodermal Cell Differentiation Regulation Of Cell Migration Ovarian Follicle Development Regulation Of Cell Motility Metal Ion Binding Macromolecule Metabolic Process Regulation Of Locomotion Cellular Response To Radiation Perineuronal Net Extracellular Matrix Structural Constituent Conferring Compression Resistance Cellular Response To UV Rhythmic Process Cellular Response To Light Stimulus Hyaluronic Acid Binding Extracellular Matrix Structural Constituent Catabolic Process Anatomical Structure Formation Involved In Morphogenesis Neuron Projection Regeneration Regulation Of Axon Regeneration Negative Regulation Of Multicellular Organismal Process Regulation Of Multicellular Organismal Process Negative Regulation Of Cell Adhesion Regulation Of Neuron Projection Regeneration Extracellular Matrix Binding Positive Regulation Of Cell Migration Positive Regulation Of Cell Motility Positive Regulation Of Locomotion
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