MCFD2

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.^[5][6][7] 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.

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)[1] Band 2p21 Start 46,901,870 bp[1] End 46,941,855 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E4 Start 87,561,871 bp[2] End 87,573,363 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 90411 193813 Ensembl ENSG00000180398 ENSMUSG00000024150 UniProt Q8NI22 Q8K5B2 RefSeq (mRNA) NM_139279 NM_001171506 NM_001171507 NM_001171508 NM_001171509 NM_001171510 NM_001171511 NM_139295 NM_176808 RefSeq (protein) NP_001164977 NP_001164978 NP_001164979 NP_001164980 NP_001164981 NP_001164982 NP_644808 NP_647456 NP_789778 Location (UCSC) Chr 2: 46.9 – 46.94 Mb Chr 17: 87.56 – 87.57 Mb PubMed search [3] [4]
Wikidata
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