EFEMP2 and ATXN7

Data Source:
BioGRID (two hybrid)

		EFEMP2	ATXN7
Description		EGF containing fibulin extracellular matrix protein 2	ataxin 7
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GO Annotations	Cellular Component	Microfibril Extracellular Region Basement Membrane Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome Elastic Fiber Extracellular Vesicle	Nucleus Nucleoplasm Nucleolus Cytosol Microtubule Cytoskeleton Nuclear Matrix
	Molecular Function	Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Heparin Binding Protein Homodimerization Activity	Protein Binding
	Biological Process	Aorta Development Elastic Fiber Assembly Aorta Smooth Muscle Tissue Morphogenesis Vascular Associated Smooth Muscle Cell Development Regulation Of Collagen Fibril Organization Positive Regulation Of Collagen Fibril Organization Negative Regulation Of Vascular Associated Smooth Muscle Cell Proliferation Positive Regulation Of Aortic Smooth Muscle Cell Differentiation Positive Regulation Of Smooth Muscle Cell-matrix Adhesion	Microtubule Cytoskeleton Organization Nucleus Organization Negative Regulation Of Microtubule Depolymerization Visual Perception Histone Deubiquitination Protein Deubiquitination
Pathways		Molecules associated with elastic fibres Molecules associated with elastic fibres	HATs acetylate histones Ub-specific processing proteases
Drugs
Diseases		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	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
GWAS		Acne (severe) ( 24927181) Adult body size ( 32376654) Birth weight ( 31043758) Body size at age 10 ( 32376654) Retinal detachment or retinal break ( 31816047)	anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Diastolic blood pressure ( 30224653) Estimated glomerular filtration rate ( 31152163) Red cell distribution width ( 32888494) Refractive error ( 32231278) Schizophrenia ( 28991256 25056061 29483656) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Type 2 diabetes ( 30054458)
Interacting Genes		130 interacting genes: ADAMTSL4 AMMECR1 ANAPC11 AP1M1 APEX2 AQP1 ARRDC3 ATN1 ATXN1 ATXN7 BAG6 C3 C5orf24 CACNA1A CATSPER1 CCDC33 CCND3 CCNK CDPF1 CLPP CNNM3 COL8A1 CREB5 CXCL5 CYSRT1 DGCR6 DOK7 FAM107A FAM110A FAM124B FAM74A4 FAM90A1 FBXW5 FTO GFI1B GLRX3 HDAC4 HHEX HHIPL1 HOXA1 HPCAL1 HSD3B7 HSPA12B HSPBP1 IGFBP6 IL16 INCA1 ITGB5 KLF1 KRTAP10-8 KRTAP11-1 KRTAP12-2 KRTAP13-3 KRTAP19-5 KRTAP26-1 KRTAP3-2 LBX1 LCE1A LCE1C LCE1E LCE2C LCE2D LCE3A LCE3C LCE3D LCE3E LINGO1 LNX1 MDFI MEOX2 MRPL12 MXI1 NEDD4L NOS3 NR1D2 NTM NUFIP2 OTX1 P2RX7 PIDD1 PITX1 PLSCR1 PLSCR4 PROP1 PRPF31 PRR32 PTGER3 RAB40B RBAK RBP3 RBPMS RERE RHOXF2 RHPN1 RIBC2 RNF138 SGTA SGTB SLC16A5 SLC23A1 SLC25A48 SPACA9 SPATA24 SPATA3 SPATA8 SPRY4 STK16 TCAF1 THAP7 TLE5 TLX3 TP53 TRIB3 TRIM42 UBQLN1 UBQLN4 USP21 ZNF263 ZNF345 ZNF426 ZNF558 ZNF57 ZNF581 ZNF587 ZNF638 ZNF670 ZNF699 ZNF768 ZNF774 ZNF837	59 interacting genes: ACTN1 ACTN2 ACTN4 ADAM33 AGRN CARD10 CEP70 CEP72 COG6 CRIM1 CRX EFEMP1 EFEMP2 FBN1 FN1 GOLGA2 GOLGA3 GPRASP1 GRN ITPRID2 JAG2 KALRN KAT2A LAMB1 LAMB2 LRSAM1 LTBP4 MATN2 MEGF6 MPRIP NELL1 NELL2 NOC2L NUP62 PICK1 PNMA1 PPP1R12C PSMC1 RABEP1 RAD23A RNF31 SIAH1 SNX1 SPRY1 SUMO1 SUMO2 TAF10 THY1 TP53BP2 TRAF2 TRIM23 TRIM27 TRIM54 TRRAP TXNDC11 UBQLN2 USP22 VCP VWF
Entrez ID		30008	6314
HPRD ID		05221	06365
Ensembl ID		ENSG00000172638	ENSG00000163635
Uniprot IDs		A0A024R5G1 O95967 Q9H3D5	O15265 Q9UPD8
PDB IDs		2KL7	2KKR
Enriched GO Terms of Interacting Partners?
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