MCFD2
| Multiple coagulation factor deficiency 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | MCFD2 ; F5F8D; DKFZp686G21263; LMAN1IP; SDNSF | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 44552 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE MCFD2 212245 at tn.png | |||||||||||
| File:PBB GE MCFD2 212246 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Multiple coagulation factor deficiency 2, also known as MCFD2, is a human gene.[1]
References
Further reading
- Nyfeler B, Zhang B, Ginsburg D; et al. (2007). "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex". Traffic. 7 (11): 1473–81. doi:10.1111/j.1600-0854.2006.00483.x. PMID 17010120.
- 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.
- 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. 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.
- Zhang B, Cunningham MA, Nichols WC; et al. (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.
- 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. 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. PMID 10090934.
- Deka N, Wong E, Matera AG; et al. (1989). "Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene". Gene. 71 (1): 123–34. PMID 2463956.
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