Property Summary

NCBI Gene PubMed Count 31
Grant Count 25
R01 Count 23
Funding $2,348,401.7
PubMed Score 32.86
PubTator Score 30.37

Knowledge Summary

Patent

No data available

Expression

 GO Function (1)

Gene RIF (21)

PMID Text
25354775 A novel missense mutation, namely Asp81Ala in exon 3 of MCFD2 gene, is firstly reported and described as a cause of combined FV and FVIII deficiency in a Chinese family.
23852824 Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII.
23709226 Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII).
23660967 Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates.
22764119 Mutations in MCFD2 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in MCFD2-LMAN1 complex of coat protein (COP)II complex trafficking machinery; 30% of F5F8D patients have mutations in MCFD2. [REVIEW]
22535353 We present the identification of a novel MCFD2 gene missense mutation by direct sequencing.
20138881 Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein.
20007547 Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein.
20004600 The study reports for the first time a case of Combined factor V and factor VIII deficiency disorder in a Tunisian family, resulting from two novel mutations in exon 3 of the MCFD2 gene.
18685427 2 related patients were homozygous for a new missense mutation in the 2d elongation factor hand domain. Tyr135Asn is the 3d missense mutation found in the MCFD2 gene. It may disrupt the MCFD2-LMAN1 interaction.
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AA Sequence

MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQ      1 - 70
ELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAE     71 - 140
FAKSLQ                                                                    141 - 146
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Text Mined References (37)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25354775 2014 Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23852824 2013 Combined deficiency of coagulation factors V and VIII: an update.
23709226 2013 Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
23660967 2013 Multiple coagulation factor deficiency protein 2 contains the ability to support stem cell self-renewal.
22764119 2013 Inherited hematological disorders due to defects in coat protein (COP)II complex.
22535353 2012 Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.
21269460 2011 Initial characterization of the human central proteome.
20491958 2010 Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.
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