MCFD2

MCFD2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2VRG, 3A4U, 3LCP, 3WHT, 3WHU, 3WNX, 4YGE, 4YGD, 4YGB, 4YGC
Identifiers
Aliases	MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
External IDs	OMIM: 607788; MGI: 2183439; HomoloGene: 44552; GeneCards: MCFD2; OMA:MCFD2 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	46,941,855 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	87,573,363 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; seminal vesicula; ; pericardium; ; stromal cell of endometrium; ; left adrenal gland; ; adrenal cortex; ; right adrenal gland; ; right adrenal cortex; ; left adrenal cortex; ; body of pancreas;
	Top expressed in
	parotid gland; ; lacrimal gland; ; decidua; ; seminal vesicula; ; stroma of bone marrow; ; submandibular gland; ; gastrula; ; left lobe of liver; ; pyloric antrum; ; right kidney;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; metal ion binding; protein binding;
Cellular component	ER to Golgi transport vesicle membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment membrane; endoplasmic reticulum-Golgi intermediate compartment; Golgi membrane;
Biological process	protein transport; endoplasmic reticulum to Golgi vesicle-mediated transport; COPII vesicle coating; vesicle-mediated transport; protein N-linked glycosylation via asparagine;
	Sources:Amigo / QuickGO
Orthologs
	90411
	193813
	ENSG00000180398
	ENSMUSG00000024150
	Q8NI22
	Q8K5B2
NM_139279; NM_001171506; NM_001171507; NM_001171508; NM_001171509;
	NM_001171510; NM_001171511
	NM_139295; NM_176808
NP_001164977; NP_001164978; NP_001164979; NP_001164980; NP_001164981;
	NP_001164982; NP_644808
	NP_647456; NP_789778
	Wikidata
View/Edit Human	View/Edit Mouse

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene. Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.