MCFD2

Gene Name		multiple coagulation factor deficiency 2
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Gene Ontology Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum-Golgi Intermediate Compartment Golgi Apparatus ER To Golgi Transport Vesicle Membrane
	Molecular Function	Calcium Ion Binding
	Biological Process	Protein Transport Vesicle-mediated Transport Protein N-linked Glycosylation Via Asparagine Post-translational Protein Modification Cellular Protein Metabolic Process
Pathways		Defective ALG2 causes ALG2-CDG (CDG-1i) Diseases of glycosylation Defective ALG3 causes ALG3-CDG (CDG-1d) Post-translational protein modification Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Transport to the Golgi and subsequent modification Defective MGAT2 causes MGAT2-CDG (CDG-2a) Defective ALG1 causes ALG1-CDG (CDG-1k) Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective ALG6 causes ALG6-CDG (CDG-1c) Defective RFT1 causes RFT1-CDG (CDG-1n) Defective MOGS causes MOGS-CDG (CDG-2b) Asparagine N-linked glycosylation Defective ALG8 causes ALG8-CDG (CDG-1h) Defective ALG9 causes ALG9-CDG (CDG-1l) Defective MPDU1 causes MPDU1-CDG (CDG-1f) Defective MAN1B1 causes MRT15 Defective ALG12 causes ALG12-CDG (CDG-1g) Diseases associated with N-glycosylation of proteins Defective ALG11 causes ALG11-CDG (CDG-1p)
Drugs
Diseases
GWAS		Response to statin therapy ( 20339536)
Protein-protein Interactions		3 interactors: APP F8 LMAN1
Entrez ID		90411
HPRD ID		09693
Ensembl ID		ENSG00000180398
Uniprot IDs		B4DF17 Q8NI22
PDB IDs		2VRG 3A4U 3LCP
Enriched GO Terms of Interacting Partners?		Blood Coagulation Hemostasis Regulation Of Body Fluid Levels Wound Healing Platelet Degranulation Response To Wounding Platelet Activation Vesicle-mediated Transport Synaptic Growth At Neuromuscular Junction Collateral Sprouting In Absence Of Injury Collateral Sprouting Axon Midline Choice Point Recognition Exocytosis Establishment Of Localization In Cell Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Axon Choice Point Recognition Cellular Localization Neuron Remodeling Secretion By Cell Blood Coagulation, Intrinsic Pathway Secretion Cellular Copper Ion Homeostasis Cell Activation Copper Ion Homeostasis Suckling Behavior Positive Regulation Of G2/M Transition Of Mitotic Cell Cycle Response To Stress Neuron Maturation MRNA Polyadenylation Regulation Of Epidermal Growth Factor-activated Receptor Activity Mating Behavior Endoplasmic Reticulum Calcium Ion Homeostasis Neuron Recognition RNA Polyadenylation Acute-phase Response Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway Ionotropic Glutamate Receptor Signaling Pathway Regulation Of G2/M Transition Of Mitotic Cell Cycle Endoplasmic Reticulum Organization Regulation Of Cell Cycle G2/M Phase Transition Axon Cargo Transport Mating Neuromuscular Junction Development Positive Regulation Of Mitotic Cell Cycle Phase Transition Positive Regulation Of Cell Cycle Phase Transition Neuron Apoptotic Process Regulation Of Protein Tyrosine Kinase Activity Visual Learning Glutamate Receptor Signaling Pathway Visual Behavior
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