MCFD2

  • Official Full Name

    multiple coagulation factor deficiency 2

  • Overview

    This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3 UTR of this gene contains a transposon-like human repeat element named THE 1. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

  • Synonyms

    MCFD2;multiple coagulation factor deficiency 2;multiple coagulation factor deficiency protein 2;F5F8D;LMAN1IP;SDNSF;neural stem cell derived neuronal survival protein;neural stem cell-derived neuronal survival protein;F5F8D2;DKFZp686G21263

Recombinant Proteins

  • Human
  • Zebrafish
  • Chicken
  • Rat
  • Mouse
  • E.coli
  • Mammalian Cells
  • HEK293
  • His
  • T7
  • Non
  • His&Fc&Avi
  • Myc&DDK
Cat.# Product name Source (Host) Species Tag Protein Length Price
MCFD2-13H Recombinant Human MCFD2 Protein, His-tagged E.coli Human His Glu27-Gln146
MCFD2-1473Z Recombinant Zebrafish MCFD2 Mammalian Cells Zebrafish His
MCFD2-1542C Recombinant Chicken MCFD2 Mammalian Cells Chicken His
MCFD2-1836H Recombinant Human MCFD2, T7-tagged E.coli Human T7
MCFD2-28037TH Recombinant Human MCFD2, T7 -tagged E.coli Human T7 120 amino acids
MCFD2-29454TH Recombinant Human MCFD2, T7 -tagged E.coli Human T7 Full L.
MCFD2-3616R Recombinant Rat MCFD2 Protein Mammalian Cells Rat His
MCFD2-4425HCL Recombinant Human MCFD2 293 Cell Lysate HEK293 Human Non
MCFD2-12H Recombinant Human MCFD2 protein, His-tagged E.coli Human His 1-146 aa
MCFD2-14H Recombinant Human MCFD2 protein, His-tagged HEK293 Human His Glu27-Gln146
MCFD2-3272R Recombinant Rat MCFD2 Protein, His (Fc)-Avi-tagged HEK293 Rat His&Fc&Avi
MCFD2-3272R-B Recombinant Rat MCFD2 Protein Pre-coupled Magnetic Beads HEK293 Rat
Mcfd2-3994M Recombinant Mouse Mcfd2 Protein, Myc/DDK-tagged HEK293 Mouse Myc&DDK
MCFD2-4405H Recombinant Human MCFD2 Protein, Myc/DDK-tagged, C13 and N15-labeled HEK293 Human Myc&DDK

    Involved Pathway

    MCFD2 involved in several pathways and played different roles in them. We selected most pathways MCFD2 participated on our site, such as Asparagine N-linked glycosylation,COPII (Coat Protein 2) Mediated Vesicle Transport,Cargo concentration in the ER, which may be useful for your reference. Also, other proteins which involved in the same pathway with MCFD2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

    Pathway Name Pathway Related Protein
    Transport to the Golgi and subsequent modification NAPG,SCFD1,PPP6C,MIA3,SEC22C,NAPB,TRAPPC6A,MGAT4A,ANKRD28,PPP6R1
    Asparagine N-linked glycosylation NAPG,SEC22C,ALG10B,MPDU1A,NEU4,TRAPPC6BL,TRAPPC10,MAN1B1,OS9,SLC35A1
    ER to Golgi Anterograde Transport SERPINA1L,PPP6R3,MIA3,TFG,TRAPPC1,LMAN2,CTSC,PREB,YKT6,TRAPPC6BL
    Membrane Trafficking TRAPPC4,DAB2,BET1,GJA8,PREB,TMED2,BLOC1S1,EXOC3,DTNBP1,YKT6
    Post-translational protein modification MGAT4B,LMAN2L,MLEC,SCMH1,ALG10B,MPDU1,ARSI,WDR85,SPON2,TMED10
    Cargo concentration in the ER CNIH,SERPINA1L,CTSC,LMAN2,MIA3,LMAN2L,TMED10,SEC24A,PREB,SEC23A
    Metabolism of proteins GCNT3,SLC34A2A,SMC5,MUC21,TRAPPC5,OTOP2,NSMCE1,YIF1A,THSD7A,CCDC59
    COPII (Coat Protein 2) Mediated Vesicle Transport TRAPPC6BL,GOLGA2,NSFB,NAPB,TRAPPC6B,TRAPPC10,TRAPPC3,LMAN2L,TRAPPC2L,TMED10

    Protein Function

    MCFD2 has several biochemical functions, for example, calcium ion binding. Some of the functions are cooperated with other proteins, some of the functions could acted by MCFD2 itself. We selected most functions MCFD2 had, and list some proteins which have the same functions with MCFD2. You can find most of the proteins on our site.

    Function Related Protein
    calcium ion binding SPNA2,NINL,PCDHGB2,AP1S2,CDHR3,CAMKK2,Amy1,EFCAB5,MMP8,CAPN2A

    Interacting Protein

    MCFD2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with MCFD2 here. Most of them are supplied by our site. Hope this information will be useful for your research of MCFD2.

    LMAN1;RXRB;etcb_yerpe

    Resources

    Research Area

    Other Coagulation Cascade Molecules

    References

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