MCFD2 and F8

Data Source:
HPRD (in vitro)

		MCFD2	F8
Description		multiple coagulation factor deficiency 2, ER cargo receptor complex subunit	coagulation factor VIII
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GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Membrane ER To Golgi Transport Vesicle Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane	Golgi Membrane Extracellular Region Extracellular Space Endoplasmic Reticulum Lumen Plasma Membrane COPII-coated ER To Golgi Transport Vesicle Platelet Alpha Granule Lumen Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane
	Molecular Function	Calcium Ion Binding Protein Binding	Copper Ion Binding Protein Binding Oxidoreductase Activity
	Biological Process	Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Protein Transport Protein N-linked Glycosylation Via Asparagine COPII Vesicle Coating	Platelet Degranulation Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Acute-phase Response Blood Coagulation Blood Coagulation, Intrinsic Pathway COPII Vesicle Coating
Pathways		COPII-mediated vesicle transport Cargo concentration in the ER Transport to the Golgi and subsequent modification	Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation Gamma carboxylation, hypusine formation and arylsulfatase activation COPII-mediated vesicle transport Cargo concentration in the ER Defective factor IX causes thrombophilia Defective F8 accelerates dissociation of the A2 domain Defective F8 cleavage by thrombin Defective F8 binding to von Willebrand factor Defective F8 binding to the cell membrane Defective cofactor function of FVIIIa variant Defective F8 secretion Defective F9 variant does not activate FX Defective F8 sulfation at Y1699
Drugs		Antihemophilic factor, human recombinant Lonoctocog alfa Moroctocog alfa	Drotrecogin alfa Coagulation Factor IX (Recombinant) TB-402 Thrombin Protein C Human thrombin Thrombin alfa Vonicog Alfa Von Willebrand Factor Human Anti-inhibitor coagulant complex Coagulation Factor IX Human Nonacog beta pegol Damoctocog alfa pegol
Diseases		Combined deficiency of factors V and VIII (F5F8D)	Hemophilia; Hemophilia A (HEMA); Hemophilia B (HEMB); von Willebrand disease (VWD)
GWAS		Hip circumference ( 28552196) Hip circumference adjusted for BMI ( 28552196) Mean reticulocyte volume ( 32888494) Response to statin therapy ( 20339536)	Antineutrophil cytoplasmic antibody-associated vasculitis ( 22808956) Factor VIII levels ( 30586737) Red blood cell traits ( 23446634) Thrombosis ( 26908601) Venous thromboembolism ( 31420334)
Interacting Genes		11 interacting genes: APP CLCA4 CMTM5 F8 IL1RL1 LMAN1 P2RY6 PNLIPRP1 SCD SLC35A1 SYS1	17 interacting genes: ASGR2 CALR CANX F10 F2 F9 GGA1 HSPA5 LMAN1 LRP1 MCFD2 PHYH PROC PROS1 TSC22D2 UBQLN1 VWF
Entrez ID		90411	2157
HPRD ID		09693	02384
Ensembl ID		ENSG00000180398	ENSG00000185010
Uniprot IDs		B4DF17 Q8NI22	P00451
PDB IDs		2VRG 3A4U 3LCP 3WHT 3WHU 3WNX 4YGB 4YGC 4YGD 4YGE	1CFG 1D7P 1FAC 1IQD 2R7E 3CDZ 3HNB 3HNY 3HOB 3J2Q 3J2S 4BDV 4KI5 4PT6 4XZU 5K8D 6MF2
Enriched GO Terms of Interacting Partners?
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