EFEMP1

Description		EGF containing fibulin extracellular matrix protein 1
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	Epidermal Growth Factor-activated Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity
	Biological Process	Regulation Of Transcription, DNA-templated Epidermal Growth Factor Receptor Signaling Pathway Visual Perception Peptidyl-tyrosine Phosphorylation Negative Regulation Of Chondrocyte Differentiation Camera-type Eye Development Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis
Pathways		Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs
Diseases		Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
GWAS		Amyotrophic lateral sclerosis ( 19451621) Blood protein levels ( 30072576) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Carpal tunnel syndrome ( 30833571) Childhood ear infection ( 27182965 28928442) Chronic venous disease ( 28374850) Diastolic blood pressure ( 30578418) Diverticular disease ( 30177863) FEV1 ( 30804560) Height ( 28552196 20881960 25282103 25429064 19396169 19893584 23563607 31562340 18391951 18391952 20397748 20189936) Hip circumference adjusted for BMI ( 25673412) Inguinal hernia ( 26686553) Intraocular pressure ( 29617998 29785010 30054594 29235454) Joint mobility (Beighton score) ( 27182965) Lung function (FEV1/FVC) ( 30804560) Lung function (forced vital capacity) ( 24929828) Lung function (FVC) ( 30804560) Metabolite levels ( 23823483) Optic cup area ( 25631615 28073927) Pelvic organ prolapse (moderate/severe) ( 26545240) Pulse pressure ( 27841878 30578418) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Vertical cup-disc ratio (adjusted for vertical disc diameter) ( 31959993) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) 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 BMI in smokers ( 28443625) Waist circumference adjusted for body mass index ( 28552196 26785701 25673412 28448500) White matter hyperintensity burden ( 25663218) White matter hyperintensity volume ( 29752348 30659137)
Interacting Genes		21 interacting genes: ARAF ATN1 ATXN7 BAG6 CACNA1A CRYBA4 DDIAS ERRFI1 GFI1B KHDRBS1 MEOX2 NOS3 RAF1 RERE RIC8A SGTA SOCS6 TIMP3 TNIP1 TRAF2 TXNDC5
Entrez ID		2202
HPRD ID		03331
Ensembl ID		ENSG00000115380
Uniprot IDs		A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805
PDB IDs
Enriched GO Terms of Interacting Partners?
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