MCFD2

Description		multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
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GO Annotations	Cellular Component	Endoplasmic Reticulum Endoplasmic Reticulum Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Golgi Apparatus ER To Golgi Transport Vesicle Membrane Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane
	Molecular Function	Calcium Ion Binding Protein Binding Metal Ion Binding
	Biological Process	Gene Expression Protein Transport Vesicle-mediated Transport
Pathways		COPII-mediated vesicle transport Cargo concentration in the ER Transport to the Golgi and subsequent modification
Drugs		Antihemophilic factor, human recombinant Lonoctocog alfa Moroctocog alfa
Diseases		Combined deficiency of factors V and VIII (F5F8D)
GWAS		Hip circumference ( 28552196) Hip circumference adjusted for BMI ( 28552196) Mean reticulocyte volume ( 32888494) Response to statin therapy ( 20339536)
Novel Interacting Genes		11 novel interacting genes: APP CLCA4 CMTM5 F8 IL1RL1 LMAN1 P2RY6 PNLIPRP1 SCD SLC35A1 SYS1
Interacting Genes		11 interacting genes: APP CLCA4 CMTM5 F8 IL1RL1 LMAN1 P2RY6 PNLIPRP1 SCD SLC35A1 SYS1
Entrez ID		90411
HPRD ID		09693
Ensembl ID		ENSG00000180398
Uniprot IDs		B4DF17 Q8NI22
PDB IDs		2VRG 3A4U 3LCP 3WHT 3WHU 3WNX 4YGB 4YGC 4YGD 4YGE 8JP4 8JP5 8JP6 8JP7 8JP8 8JP9 8JPG
Enriched GO Terms of Interacting Partners?		Amyloid-beta Complex Growth Cone Lamellipodium Regulation Of Response To Calcium Ion Amylin Binding Positive Regulation Of Toll Signaling Pathway COPII-coated ER To Golgi Transport Vesicle G Protein-coupled UDP Receptor Activity Cellular Response To Pyrimidine Ribonucleotide Monounsaturated Fatty Acid Biosynthetic Process Interleukin-33 Binding CMP-N-acetylneuraminate Transmembrane Transporter Activity CMP-N-acetylneuraminate Transmembrane Transport Acetylcholine Receptor Activator Activity PTB Domain Binding Collateral Sprouting In Absence Of Injury Regulation Of Protein Import Response To Norepinephrine Regulation Of Endoplasmic Reticulum Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Positive Regulation Of Chemokine Production Regulation Of Chemokine Production Golgi Lumen Platelet Alpha Granule Lumen Regulation Of Type II Interferon Production Trans-Golgi Network Membrane Endosome To Plasma Membrane Transport Vesicle Positive Regulation Of Endothelin Production Growth Cone Filopodium Cellular Response To Norepinephrine Stimulus Lipoprotein Particle Phospholipase D-activating G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Protein Import Astrocyte Activation Involved In Immune Response Microglia Development Positive Regulation Of G Protein-coupled Receptor Internalization Low-density Lipoprotein Particle Mediated Signaling Coagulation Blood Coagulation Hemostasis Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane G Protein-coupled UTP Receptor Activity G Protein-coupled ADP Receptor Activity Chloride Transport Positive Regulation Of Inositol Trisphosphate Biosynthetic Process Fatty Acid Biosynthetic Process Palmitoyl-CoA 9-desaturase Activity Stearoyl-CoA 9-desaturase Activity Interleukin-33 Receptor Activity CMP-N-acetylneuraminate Metabolic Process CMP-N-acetylneuraminate Biosynthetic Process Intermediate-density Lipoprotein Particle
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