RERE and EFEMP1

Data Source:
BioGRID (two hybrid)
HPRD (two hybrid)

		RERE	EFEMP1
Description		arginine-glutamic acid dipeptide repeats	EGF containing fibulin extracellular matrix protein 1
Image			No pdb structure
GO Annotations	Cellular Component	Histone Deacetylase Complex Nucleus	Extracellular Region Extracellular Space Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	RNA Polymerase II Transcription Factor Binding Chromatin Binding Transcription Coactivator Activity Transcription Corepressor Activity Protein Binding Zinc Ion Binding Sequence-specific DNA Binding	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	Chromatin Remodeling Cerebellar Purkinje Cell Layer Maturation Cerebellar Granule Cell Precursor Proliferation Radial Glia Guided Migration Of Purkinje Cell Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Branching Morphogenesis Of A Nerve Dendrite Morphogenesis	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		Allergic disease (asthma, hay fever or eczema) ( 29083406) Allergic rhinitis ( 30013184) Allergy ( 27182965) anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Asthma ( 31361310 30929738 32296059 31619474) Asthma (adult onset) ( 30929738) Asthma (moderate or severe) ( 30552067) Asthma and major depressive disorder ( 31619474) Asthma or allergic disease (pleiotropy) ( 29785011) Autism spectrum disorder or schizophrenia ( 28540026) Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885) Autoimmune thyroid disease ( 32581359) Body size at age 10 ( 32376654) Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143) Depression ( 29700475) Diastolic blood pressure ( 27841878) Eosinophil counts ( 32888494 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Feeling miserable ( 29500382) Femoral neck bone mineral density ( 22504420) Fish- and plant-related diet ( 32066663) Heel bone mineral density ( 30598549 28869591) Hippocampal volume in normal cognition ( 29274321) Loneliness ( 31518406) Lymphocyte counts ( 32888494 27863252) Major depressive disorder ( 27479909) Medication use (adrenergics, inhalants) ( 31015401) Monocyte count ( 32888494) Neutrophil count ( 32888494) Neutrophil percentage of granulocytes ( 27863252) Optic cup area ( 25631615 28073927) Parkinson's disease ( 32201043) Refractive error ( 32231278) Schizophrenia ( 28991256 29483656 30285260) Smoking initiation ( 30617275) Smoking status (ever vs never smokers) ( 30643258) Sum eosinophil basophil counts ( 27863252) Systemic lupus erythematosus ( 33536424) Systolic blood pressure ( 30578418) Tonsillectomy ( 27182965 28928442) Total body bone mineral density ( 29304378) Upper eyelid morphology ( 29921221) Vertical cup-disc ratio ( 20548946 25241763) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) Vitiligo ( 20410501 27723757) White blood cell count ( 32888494 27863252)	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) Deep white matter hyperintensities ( 32517579) 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 ( 32184442) Pelvic organ prolapse (moderate/severe) ( 26545240) Periventricular white matter hyperintensities ( 32517579) Pulse pressure ( 27841878 30578418) Refractive error ( 32231278) 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 hyperintensities ( 32358547) White matter hyperintensity burden ( 25663218) White matter hyperintensity volume ( 29752348 30659137) Youthful appearance (self-reported) ( 32339537)
Interacting Genes		24 interacting genes: ALG13 ATN1 CBFA2T2 CCDC120 ECM1 EFEMP1 EFEMP2 EHMT2 H3C14 KAT6A KRTAP12-4 KRTAP4-12 KRTAP6-2 LZTR1 NR2E1 PLSCR1 PRRC2A PRRC2B PSMA3 RBFOX2 SNRPC TRIM22 TRIP6 ZMYND8	42 interacting genes: ANAPC11 ARAF ATN1 ATXN7 BAG4 BAG5 BAG6 CACNA1A CLPP CRYBA4 CYSRT1 DDIAS ERRFI1 FAM110A GFI1B HOXA1 HSD3B7 IGFBP6 KHDRBS1 KRTAP19-2 KRTAP21-2 KRTAP6-1 LCE1C LCE2C LCE3A LCE3D MEOX2 MKRN3 MSRB3 NOS3 NR4A3 RAF1 RERE RIC8A SGTA SLPI SOCS6 TIMP3 TNIP1 TRAF2 TXNDC5 UBQLN2
Entrez ID		473	2202
HPRD ID		05566	03331
Ensembl ID		ENSG00000142599	ENSG00000115380
Uniprot IDs		Q9P2R6	A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805
PDB IDs		2YQK
Enriched GO Terms of Interacting Partners?
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