Property Summary

NCBI Gene PubMed Count 31
PubMed Score 32.86
PubTator Score 30.37

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8NI22 A8K7W2 D6W5A9 E9PD95 Q53SS3 Q68D61 Q8N3M5
Symbols F5F8D
SDNSF
F5F8D2
LMAN1IP

Gene

PANTHER Protein Class (1)

PDB

3A4U   3LCP   3WHT   3WHU   3WNX   4YGB   4YGC   4YGD   4YGE   2VRG  

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG

 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
//

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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