EFEMP1 and RERE

Number of citations: 0 (PubMedID 16713569)
Data Source: BioGRID (two hybrid), HPRD (two hybrid)

		EFEMP1	RERE
Name		EGF-like fibulin extracellular matrix protein 1	arginine-glutamic acid dipeptide repeats
Structure		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Extracellular Matrix Extracellular Exosome	Histone Deacetylase Complex Nucleus Nucleoplasm Nuclear Body
	Molecular Function	Epidermal Growth Factor Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity	Chromatin Binding Transcription Coactivator Activity Transcription Corepressor Activity Protein Binding Zinc Ion Binding Sequence-specific DNA Binding Metal Ion Binding
	Biological Process	Regulation Of DNA-templated Transcription 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	Chromatin Remodeling Regulation Of DNA-templated Transcription Cerebellum Development Cerebellar Purkinje Cell Layer Maturation Cerebellar Granule Cell Precursor Proliferation Radial Glia Guided Migration Of Purkinje Cell Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Branching Morphogenesis Of A Nerve Dendrite Morphogenesis
Pathways		Molecules associated with elastic fibres Molecules associated with elastic fibres	None
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)	None
GWAS		A body shape index ( 34021172 ) Amyotrophic lateral sclerosis ( 19451621 ) Appendicular lean mass ( 33097823 ) 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 ) Glaucoma (primary open-angle) ( 33627673 ) Height ( 18391952 31562340 28552196 33713608 34270706 25429064 18391951 19396169 19893584 20189936 20397748 20881960 23563607 25282103 ) Hip circumference adjusted for BMI ( 34021172 25673412 ) Inguinal hernia ( 26686553 ) Intraocular pressure ( 29235454 29617998 29785010 30054594 ) Joint mobility (Beighton score) ( 27182965 ) Lung function (FEV1/FVC) ( 30804560 ) Lung function (forced vital capacity) ( 24929828 ) Lung function (FVC) ( 30804560 ) Lung volume ( 34128465 ) Metabolite levels ( 23823483 ) Optic cup area ( 28073927 25631615 ) 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 ( 25673412 26785701 28552196 34021172 28448500 ) Waist-hip index ( 34021172 ) White matter hyperintensities ( 32358547 ) White matter hyperintensity burden ( 25663218 ) White matter hyperintensity volume ( 33293549 29752348 30659137 ) White matter hyperintensity volume (adjusted for hypertension) ( 33293549 ) White matter hyperintensity volume x hypertension interaction (2df) ( 33293549 ) Youthful appearance (self-reported) ( 32339537 )	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 ) Appendicular lean mass ( 33097823 ) Asthma ( 34103634 32296059 31619474 31361310 30929738 ) 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 ) Daytime nap ( 33568662 ) Depression ( 29700475 ) Diastolic blood pressure ( 27841878 ) Eosinophil count ( 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 ) Glaucoma (primary open-angle) ( 33627673 ) Heel bone mineral density ( 28869591 30598549 ) Hippocampal volume in normal cognition ( 29274321 ) Loneliness ( 31518406 ) Lymphocyte count ( 32888494 27863252 ) Major depressive disorder ( 27479909 ) Medication use (adrenergics, inhalants) ( 31015401 ) 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 33082346 ) Smoking status (ever vs never smokers) ( 30643258 ) Sum eosinophil basophil counts ( 27863252 ) Systemic lupus erythematosus ( 33536424 ) Systolic blood pressure ( 30578418 ) Tonsillectomy ( 28928442 27182965 ) Total body bone mineral density ( 29304378 ) Total carotid plaque area (excess vs minimal atherosclerosis) ( 32811377 ) Upper eyelid morphology ( 29921221 ) Vertical cup-disc ratio ( 25241763 20548946 ) Vertical cup-disc ratio (multi-trait analysis) ( 31959993 ) Vitiligo ( 20410501 27723757 ) White blood cell count ( 32888494 27863252 )
Novel Interactors		1 novel interactors: XPO1	7 novel interactors: FBXO42 HSPB7 LNPK MITF PAF1 ZBTB17 ZNF239
Interacting Genes		49 interacting genes: ANAPC11 ARAF ATN1 ATXN7 BAG4 BAG5 BAG6 CACNA1A CACNA1C CLPP CRYBA4 CYSRT1 DDIAS DSCR9 DYRK1A ERRFI1 FAM110A GFI1B HOXA1 HSD3B7 IGFBP6 KHDRBS1 KRTAP19-2 KRTAP21-2 KRTAP6-1 LCE1C LCE2C LCE3A LCE3D MEOX2 MKRN3 MSRB3 NLGN3 NOS3 NR4A3 NUFIP2 RAF1 RERE RIC8A SGTA SHANK3 SLPI SOCS6 TIMP3 TMEM132D TNIP1 TRAF2 TXNDC5 UBQLN2	25 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 VHL ZMYND8
Entrez ID		2202	473
HPRD ID		03331	05566
Ensembl ID		ENSG00000115380	ENSG00000142599
Uniprot IDs		A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805	Q9P2R6
PDB IDs		Not available	2YQK
GO Terms Enriched among Interactors		Keratinization Regulation Of Proteasomal Protein Catabolic Process Positive Regulation Of ERAD Pathway Regulation Of ERAD Pathway Epidermis Development Regulation Of Protein Catabolic Process Identical Protein Binding Regulation Of Proteolysis Negative Regulation Of Apoptotic Process Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Programmed Cell Death Positive Regulation Of Response To Endoplasmic Reticulum Stress Regulation Of Protein Metabolic Process Positive Regulation Of Glutamate Receptor Signaling Pathway Post-translational Protein Targeting To Endoplasmic Reticulum Membrane Negative Regulation Of Protein Catabolic Process Regulation Of Type B Pancreatic Cell Proliferation Regulation Of Glutamate Receptor Signaling Pathway Protein Binding High Voltage-gated Calcium Channel Activity Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process	Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of RNA Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Nucleoplasm Regulation Of RNA Biosynthetic Process Negative Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Macromolecule Metabolic Process DNA-binding Transcription Factor Binding Negative Regulation Of Biosynthetic Process Regulation Of RNA Metabolic Process Transcription Corepressor Activity Negative Regulation Of Metabolic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Nucleobase-containing Compound Metabolic Process Cajal Body Protein Binding Developmental Process Zinc Ion Binding Camera-type Eye Development Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Metabolic Process Extracellular Matrix Structural Constituent Regulation Of Gene Expression Epidermal Growth Factor Receptor Binding Eye Development DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific Forebrain Generation Of Neurons Histone H3K56 Methyltransferase Activity Positive Regulation Of Smooth Muscle Cell-matrix Adhesion N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Activity Endoplasmic Reticulum Tubular Network Maintenance