MCFD2

From Wikipedia, the free encyclopedia

Multiple coagulation factor deficiency 2

Identifiers

MCFD2; F5F8D; DKFZp686G21263; LMAN1IP; SDNSF

External IDs

OMIM: 607788 MGI: 2183439 HomoloGene: 44552

Gene ontology
Molecular Function:	• calcium ion binding
Cellular Component:	• endoplasmic reticulum
Biological Process:	• ER to Golgi vesicle-mediated transport • protein transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_139279 (mRNA)
NP_644808 (protein)

NM_139295 (mRNA)
NP_647456 (protein)

Location

Chr 2: 46.98 - 47 Mb

Chr 17: 87.16 - 87.17 Mb

Pubmed search

[1]

[2]

Multiple coagulation factor deficiency 2, also known as MCFD2, is a human gene.^[1]

[edit] References

^ Entrez Gene: MCFD2 multiple coagulation factor deficiency 2.

[edit] 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.