MCFD2: Difference between revisions

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{{Infobox_gene}}
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'''Multiple coagulation factor deficiency protein 2''' is a [[protein]] that in humans is encoded by the ''MCFD2'' [[gene]].<ref name="pmid12717434">{{cite journal |vauthors=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 | title = Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex | journal = Nat Genet | volume = 34 | issue = 2 | pages = 220–5 |date=May 2003 | pmid = 12717434 | pmc =  | doi = 10.1038/ng1153 }}</ref><ref name="pmid2463956">{{cite journal |vauthors=Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW | title = Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene | journal = Gene | volume = 71 | issue = 1 | pages = 123–34 |date=Mar 1989 | pmid = 2463956 | pmc =  | doi =10.1016/0378-1119(88)90084-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MCFD2 multiple coagulation factor deficiency 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90411| accessdate = }}</ref> 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.
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{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Multiple coagulation factor deficiency 2
| HGNCid = 18451
| Symbol = MCFD2
| AltSymbols =; F5F8D; DKFZp686G21263; LMAN1IP; SDNSF
| OMIM = 607788
| ECnumber =
| Homologene = 44552
  | MGIid = 2183439
| GeneAtlas_image1 = PBB_GE_MCFD2_212245_at_tn.png
| GeneAtlas_image2 = PBB_GE_MCFD2_212246_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}  
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0006888 |text = ER to Golgi vesicle-mediated transport}} {{GNF_GO|id=GO:0015031 |text = protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 90411
    | Hs_Ensembl = ENSG00000180398
    | Hs_RefseqProtein = NP_644808
    | Hs_RefseqmRNA = NM_139279
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 46982521
    | Hs_GenLoc_end = 46996453
    | Hs_Uniprot = Q8NI22
    | Mm_EntrezGene = 193813
    | Mm_Ensembl = ENSMUSG00000024150
    | Mm_RefseqmRNA = NM_139295
    | Mm_RefseqProtein = NP_647456
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 87162769
    | Mm_GenLoc_end = 87174206
    | Mm_Uniprot = Q99KV4
  }}
}}
'''Multiple coagulation factor deficiency 2''', also known as '''MCFD2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MCFD2 multiple coagulation factor deficiency 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90411| accessdate = }}</ref>


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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Nyfeler B, Zhang B, Ginsburg D, ''et al.'' |title=Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. |journal=Traffic |volume=7 |issue= 11 |pages= 1473-81 |year= 2007 |pmid= 17010120 |doi= 10.1111/j.1600-0854.2006.00483.x }}
*{{cite journal   |vauthors=Nyfeler B, Zhang B, Ginsburg D, etal |title=Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. |journal=Traffic |volume=7 |issue= 11 |pages= 1473–81 |year= 2007 |pmid= 17010120 |doi= 10.1111/j.1600-0854.2006.00483.x }}
*{{cite journal | author=Mohanty D, Ghosh K, Shetty S, ''et al.'' |title=Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. |journal=Am. J. Hematol. |volume=79 |issue= 4 |pages= 262-6 |year= 2005 |pmid= 16044454 |doi= 10.1002/ajh.20397 }}
*{{cite journal   |vauthors=Mohanty D, Ghosh K, Shetty S, etal |title=Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. |journal=Am. J. Hematol. |volume=79 |issue= 4 |pages= 262–6 |year= 2005 |pmid= 16044454 |doi= 10.1002/ajh.20397 }}
*{{cite journal  | author=Zhang B, Kaufman RJ, Ginsburg D |title=LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. |journal=J. Biol. Chem. |volume=280 |issue= 27 |pages= 25881-6 |year= 2005 |pmid= 15886209 |doi= 10.1074/jbc.M502160200 }}
*{{cite journal  |vauthors=Zhang B, Kaufman RJ, Ginsburg D |title=LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. |journal=J. Biol. Chem. |volume=280 |issue= 27 |pages= 25881–6 |year= 2005 |pmid= 15886209 |doi= 10.1074/jbc.M502160200 }}
*{{cite journal | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724-31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal   |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Spatuzza C, Renna M, Faraonio R, ''et al.'' |title=Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway. |journal=J. Biol. Chem. |volume=279 |issue= 41 |pages= 42535-44 |year= 2004 |pmid= 15292203 |doi= 10.1074/jbc.M401860200 }}
*{{cite journal   |vauthors=Spatuzza C, Renna M, Faraonio R, etal |title=Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway. |journal=J. Biol. Chem. |volume=279 |issue= 41 |pages= 42535–44 |year= 2004 |pmid= 15292203 |doi= 10.1074/jbc.M401860200 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Toda H, Tsuji M, Nakano I, ''et al.'' |title=Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells. |journal=J. Biol. Chem. |volume=278 |issue= 37 |pages= 35491-500 |year= 2003 |pmid= 12832409 |doi= 10.1074/jbc.M305342200 }}
*{{cite journal   |vauthors=Toda H, Tsuji M, Nakano I, etal |title=Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells. |journal=J. Biol. Chem. |volume=278 |issue= 37 |pages= 35491–500 |year= 2003 |pmid= 12832409 |doi= 10.1074/jbc.M305342200 }}
*{{cite journal | author=Zhang B, Cunningham MA, Nichols WC, ''et al.'' |title=Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. |journal=Nat. Genet. |volume=34 |issue= 2 |pages= 220-5 |year= 2003 |pmid= 12717434 |doi= 10.1038/ng1153 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Nichols WC, Terry VH, Wheatley MA, etal |title=ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. |journal=Blood |volume=93 |issue= 7 |pages= 2261–6 |year= 1999 |pmid= 10090935 |doi=  }}
*{{cite journal | author=Nichols WC, Terry VH, Wheatley MA, ''et al.'' |title=ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. |journal=Blood |volume=93 |issue= 7 |pages= 2261-6 |year= 1999 |pmid= 10090935 |doi=  }}
*{{cite journal   |vauthors=Neerman-Arbez M, Johnson KM, Morris MA, etal |title=Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. |journal=Blood |volume=93 |issue= 7 |pages= 2253–60 |year= 1999 |pmid= 10090934 |doi=  }}
*{{cite journal | author=Neerman-Arbez M, Johnson KM, Morris MA, ''et al.'' |title=Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. |journal=Blood |volume=93 |issue= 7 |pages= 2253-60 |year= 1999 |pmid= 10090934 |doi=  }}
*{{cite journal  | author=Deka N, Wong E, Matera AG, ''et al.'' |title=Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene. |journal=Gene |volume=71 |issue= 1 |pages= 123-34 |year= 1989 |pmid= 2463956 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 06:15, 4 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.[1][2][3] 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.


References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

Further reading



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