EGFL7 and GNE

Number of citations: 50 (PubMedID 32296183)
Data Source: BioGRID (two hybrid)

		EGFL7	GNE
Name		EGF like domain multiple 7	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Structure		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Cell Surface Extracellular Matrix	Cytoplasm Cytosol
	Molecular Function	Signaling Receptor Binding Calcium Ion Binding Protein Binding	Nucleotide Binding Catalytic Activity Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding ATP Binding UDP-N-acetylglucosamine 2-epimerase Activity N-acylmannosamine Kinase Activity Kinase Activity Transferase Activity Hydrolase Activity Metal Ion Binding
	Biological Process	Angiogenesis Blood Vessel Development Vasculogenesis Positive Regulation Of Endothelial Cell Proliferation Cell Adhesion Cell Differentiation Negative Regulation Of Notch Signaling Pathway	N-acetylglucosamine Biosynthetic Process UDP-N-acetylglucosamine Metabolic Process N-acetylneuraminate Metabolic Process CMP-N-acetylneuraminate Biosynthetic Process N-acetylneuraminate Biosynthetic Process Carbohydrate Phosphorylation Glycosylation
Pathways		None	Sialic acid metabolism Defective GNE causes sialuria, NK and IBM2
Diseases		None	Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
GWAS		Diastolic blood pressure ( 30224653 ) Lean body mass ( 28552196 ) Mean reticulocyte volume ( 32888494 ) Metabolite levels ( 23823483 ) Triiodothyronine levels and thyroxine levels ( 30843173 )	Bipolar disorder (inflammation and infection response interaction) ( 25781172 ) Bisphosphonate-associated atypical femoral fracture ( 31006051 )
Novel Interactors		None recorded	1 novel interactors: SIGMAR1
Interacting Genes		18 interacting genes: FXR1 FXR2 GFI1B GNE HEXIM2 HGS HOXA1 HSD3B7 MID2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NUFIP2 RASSF10 SMARCD1 SPAG8 UBC	65 interacting genes: ADAMTSL4 C22orf39 CFP CRMP1 CYSRT1 ECM1 EGFL7 GRN GTPBP3 HOXA1 KIAA1549 KPRP KRT31 KRT34 KRT40 KRT83 KRT85 KRT86 KRTAP1-1 KRTAP1-3 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP11-1 KRTAP12-3 KRTAP13-2 KRTAP13-3 KRTAP17-1 KRTAP19-2 KRTAP19-7 KRTAP3-1 KRTAP3-3 KRTAP4-1 KRTAP4-11 KRTAP4-12 KRTAP4-4 KRTAP5-9 KRTAP6-1 KRTAP6-2 KRTAP6-3 KRTAP9-2 KRTAP9-3 KRTAP9-8 MDFI MGAT5B NBPF19 NID2 NOTCH2NLA PLA2G10 PRICKLE4 RIF1 SPRY1 SPRY2 SPRY3 SSC4D TRIM27 TRIM42 TRIP6 TSPAN4 VWC2 WDR83 WWOX ZBTB16
Entrez ID		51162	10020
HPRD ID		16351	04825
Ensembl ID		ENSG00000172889	ENSG00000159921
Uniprot IDs		Q9UHF1	A0A7I2SU25 Q9Y223
PDB IDs		Not available	2YHW 2YHY 2YI1 3EO3 4ZHT
GO Terms Enriched among Interactors		Positive Regulation Of RNA Metabolic Process Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of Biosynthetic Process Positive Regulation Of Smooth Muscle Cell Differentiation Cellular Response To Tumor Cell Regulation Of Translation At Presynapse, Modulating Synaptic Transmission Regulation Of Multicellular Organismal Development Positive Regulation Of Cell Development Notch Signaling Pathway Positive Regulation Of Macromolecule Metabolic Process Regulation Of Cell Differentiation Transcription Coactivator Activity Luteolysis Tube Morphogenesis Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Regulation Of Cell Development Regulation Of Smooth Muscle Cell Differentiation Atrioventricular Node Development Positive Regulation Of Cell Differentiation Glomerular Capillary Formation Regulation Of RNA Metabolic Process Positive Regulation Of Transcription Of Notch Receptor Target Positive Regulation Of Metabolic Process Negative Regulation Of Cell Adhesion Molecule Production Positive Regulation Of Long-term Neuronal Synaptic Plasticity Artery Morphogenesis Regulation Of Developmental Process Negative Regulation Of Cell-cell Adhesion Mediated By Cadherin Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of Small GTPase Mediated Signal Transduction Regulation Of Cell Adhesion Molecule Production Positive Regulation Of Muscle Cell Differentiation Positive Regulation Of Neurogenesis Regulation Of Gene Expression Left/right Axis Specification Regulation Of Macromolecule Biosynthetic Process Cytoplasmic Stress Granule Regulation Of Primary Metabolic Process Blood Vessel Morphogenesis Positive Regulation Of Ras Protein Signal Transduction Positive Regulation Of Nervous System Development Pulmonary Valve Morphogenesis Signaling Receptor Activity Translation Regulator Activity Positive Regulation Of Transcription By RNA Polymerase II Morphogenesis Of An Epithelial Sheet Nephron Tubule Development Positive Regulation Of Developmental Process	Intermediate Filament Keratin Filament Structural Constituent Of Skin Epidermis Cytosol Hair Cycle Keratinization Intermediate Filament Organization Structural Molecule Activity Epidermis Development Intermediate Filament Cytoskeleton Organization Intermediate Filament-based Process Negative Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway Negative Regulation Of Neurotrophin TRK Receptor Signaling Pathway Negative Regulation Of Lens Fiber Cell Differentiation Negative Regulation Of Ras Protein Signal Transduction Protein Binding Identical Protein Binding Regulation Of Fibroblast Growth Factor Receptor Signaling Pathway Bud Elongation Involved In Lung Branching Interstitial Matrix Regulation Of Lens Fiber Cell Differentiation Regulation Of Ras Protein Signal Transduction Regulation Of Neurotrophin TRK Receptor Signaling Pathway