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
  • Cell & Tissue Lysates
  • Protein Pre-coupled Magnetic Beads
  • Chicken
  • Human
  • Mouse
  • Rat
  • Zebrafish
  • E.coli
  • HEK293
  • HEK293T
  • Mammalian Cell
  • His
  • His (Fc)
  • Avi
  • Myc
  • DDK
  • N/A
  • T7
Species Cat.# Product name Source (Host) Tag Protein Length Price
Human MCFD2-28037TH Recombinant Human MCFD2, T7 -tagged E.coli T7
Human MCFD2-29454TH Recombinant Human MCFD2, T7 -tagged E.coli T7
Human MCFD2-1836H Recombinant Human MCFD2, T7-tagged E.coli T7
Human MCFD2-4425HCL Recombinant Human MCFD2 293 Cell Lysate HEK293 N/A
Human MCFD2-4405H Recombinant Human MCFD2 Protein, Myc/DDK-tagged, C13 and N15-labeled HEK293T Myc/DDK
Mouse Mcfd2-3994M Recombinant Mouse Mcfd2 Protein, Myc/DDK-tagged HEK293T Myc/DDK
Rat MCFD2-3616R Recombinant Rat MCFD2 Protein Mammalian Cell His
Rat MCFD2-3272R Recombinant Rat MCFD2 Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Rat MCFD2-3272R-B Recombinant Rat MCFD2 Protein Pre-coupled Magnetic Beads HEK293
Zebrafish MCFD2-1473Z Recombinant Zebrafish MCFD2 Mammalian Cell His
Chicken MCFD2-1542C Recombinant Chicken MCFD2 Mammalian Cell His
  • Involved Pathway
  • Protein Function
  • Interacting Protein
  • MCFD2 Related Research Area

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
Asparagine N-linked glycosylationLMAN2L;TRAPPC1;BET1;MGAT4A;NAPAB;OS9;TFG;ST8SIA2;MAN1B1
COPII (Coat Protein 2) Mediated Vesicle TransportPPP6R3;TRAPPC5;TMED2;NAPAB;CNIH;SEC22C;TMED10;SEC23A;TRAPPC3
Cargo concentration in the ERLMAN2L;TMED2;SERPINA1L;MIA3;TMED10;PREB;SEC23A;MCFD2;CNIH3
ER to Golgi Anterograde TransportSERPINA1L;TRAPPC6BL;YKT6;NAPB;PPP6R1;TRAPPC5;NAPAA;TRAPPC10;TRAPPC3
Membrane TraffickingEXOC6;MYO6A;TPD52L1;TMED2;AP3S1;GJB4;NAPAB;RALAB;SNF8
Metabolism of proteinsEID3;TRAPPC4;APEH;DDIT3;CEACAM21;ADAMTSL1;STT3A;TRAPPC1;FXC1
Post-translational protein modificationPPP6R3;NSMCE4A;PREB;EID3;SMC5;OTOP2;SPON1B;KCNA6;DPH1
Transport to the Golgi and subsequent modificationSEC23IP;SEC22A;TRAPPC5;TRAPPC9;PPP6R1;CTAGE5;PPP6R3;BET1;SEC16B

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 bindingSYT2;CETN1;PCDHB16;EMR1;PLA2G12B;RHOT2;GPD2;DLK2;PLCB3

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

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