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
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 87,254,443 bp[2] End 87,265,935 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • metal ion binding • GO:0001948 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 • ER 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: 87.25 – 87.27 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000180398 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024150 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D (May 2003). "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet. 34 (2): 220–5. doi:10.1038/ng1153. PMID 12717434. S2CID 19281158.
6. Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW (Mar 1989). "Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene". Gene. 71 (1): 123–34. doi:10.1016/0378-1119(88)90084-4. PMID 2463956.
7. "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

Further reading

• Nyfeler B, Zhang B, Ginsburg D, et al. (2007). "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex" (PDF). Traffic. 7 (11): 1473–81. doi:10.1111/j.1600-0854.2006.00483.x. PMID 17010120. S2CID 22483569.
• Mohanty D, Ghosh K, Shetty S, et al. (2005). "Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII". Am. J. Hematol. 79 (4): 262–6. doi:10.1002/ajh.20397. PMID 16044454. S2CID 30602878.
• Zhang B, Kaufman RJ, Ginsburg D (2005). "LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway". J. Biol. Chem. 280 (27): 25881–6. doi:10.1074/jbc.M502160200. PMID 15886209.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Spatuzza C, Renna M, Faraonio R, et al. (2004). "Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway". J. Biol. Chem. 279 (41): 42535–44. doi:10.1074/jbc.M401860200. PMID 15292203.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Toda H, Tsuji M, Nakano I, et al. (2003). "Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells". J. Biol. Chem. 278 (37): 35491–500. doi:10.1074/jbc.M305342200. PMID 12832409.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nichols WC, Terry VH, Wheatley MA, et al. (1999). "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood. 93 (7): 2261–6. PMID 10090935.
• Neerman-Arbez M, Johnson KM, Morris MA, et al. (1999). "Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency". Blood. 93 (7): 2253–60. doi:10.1182/blood.V93.7.2253. PMID 10090934.