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MCFD2 cDNA ORF clone, Homo sapiens(human)

Summary

Gene Symbol MCFD2
Entrez Gene ID 90411
Full Name multiple coagulation factor deficiency 2
Synonyms F5F8D,F5F8D2,LMAN1IP,SDNSF
General protein information
Preferred Names

multiple coagulation factor deficiency 2

Names

multiple coagulation factor deficiency protein 2
neural stem cell-derived neuronal survival protein
Gene Type protein-coding
Organism Homo sapiens(human)
Genome

2

2p21
Summary This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (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. [provided by RefSeq, Apr 2016].
Disorder MIM:

607788

Disorder Html: Factor V and factor VIII, combined deficiency of, 613625 (3)

Reference Sequences (RefSeq)

mRNA and Protein(s)

mRNA Protein Name
NM_001171507.2 NP_001164978.1 multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171510.2 NP_001164981.1 multiple coagulation factor deficiency protein 2 isoform B
NM_001171509.2 NP_001164980.1 multiple coagulation factor deficiency protein 2 isoform B
NM_001171506.2 NP_001164977.1 multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171509.3 NP_001164980.1 multiple coagulation factor deficiency protein 2 isoform B
NM_001171511.2 NP_001164982.1 multiple coagulation factor deficiency protein 2 isoform C
NM_001171508.2 NP_001164979.1 multiple coagulation factor deficiency protein 2 isoform A precursor
NM_139279.5 NP_644808.1 multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171510.3 NP_001164981.1 multiple coagulation factor deficiency protein 2 isoform B

Pathways from BioSystems


Homologies


Mus musculus (house mouse) Mcfd2 NP_789778.1
Homo sapiens (human) MCFD2 NP_644808.1
Canis lupus familiaris (dog) MCFD2 XP_005626141.1
LOC717900 XP_001109911.2
Bos taurus (cattle) MCFD2 XP_005217264.1
Caenorhabditis elegans (roundworm) F55A11.1 NP_505967.1
Pan troglodytes (chimpanzee) MCFD2 XP_515454.3
Gallus gallus (chicken) MCFD2 NP_001006400.1
Xenopus tropicalis (tropical clawed frog) mcfd2 NP_001011062.1
Rattus norvegicus (Norway rat) Mcfd2 NP_640346.1
Danio rerio (zebrafish) mcfd2 NP_001005939.1

Gene Ontology


Bibliography

Related articles in PubMed

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Suzuki S, Nakamura Y, Suzuki N, Yamazaki T, Takagi Y, Tamura S, Takagi A, Kanematsu T, Matsushita T, Kojima T
Haemophilia : the official journal of the World Federation of Hemophilia24(1)e13-e16(2018 Jan)

Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
Wang A, Liu X, Wu J, Cai X, Zhu W, Sun Z
Haemophilia : the official journal of the World Federation of Hemophilia20(6)e436-8(2014 Nov)

Combined deficiency of coagulation factors V and VIII: an update.
Zheng C, Zhang B
Seminars in thrombosis and hemostasis39(6)613-20(2013 Sep)

Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
Zheng C, Page RC, Das V, Nix JC, Wigren E, Misra S, Zhang B
The Journal of biological chemistry288(28)20499-509(2013 Jul)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Title: Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.

Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII.
Title: Combined deficiency of coagulation factors V and VIII: an update.

Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates.
Title: Multiple coagulation factor deficiency protein 2 contains the ability to support stem cell self-renewal.

Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII).
Title: Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).

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]
Title: Inherited hematological disorders due to defects in coat protein (COP)II complex.

The following MCFD2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MCFD2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID Accession No. Definition **Vector *Turnaround time Price (USD) Select
OHu13873 NM_001171509.3
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 5, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13873 NM_001171510.3
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 6, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13915 NM_001171508.2
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 4, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13915 NM_001171506.2
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13915 NM_139279.5
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13915 NM_001171507.2
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13973 NM_001171511.2
Latest version!		 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 7, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
View Old Accession Versions >>
OHu13873 NM_001171509.2 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 5, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu13873 NM_001171510.2 Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 6, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
Hide Old Accession Versions >>

ORF Online Only Promotion

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*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)


CloneID OHu13873
Clone ID Related Accession (Same CDS sequence) NM_001171510.2 , NM_001171509.2 , NM_001171509.3 , NM_001171510.3
Accession Version NM_001171510.2 Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 285bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2018-09-21
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform B
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA404031.1, DB096245.1, AF537214.1 and AI371370.1. On Jun 17, 2010 this sequence version replaced NM_001171510.1. Transcript Variant: This variant (6) lacks the first coding exon and differs in the 5' UTR, compared to variant 1. These differences result in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.228163.1, SRR1803612.261743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164981.1
CDS140..424
Translation

Target ORF information:

RefSeq Version NM_001171510.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 6, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171510.2

ORF Insert Sequence:

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13873
Clone ID Related Accession (Same CDS sequence) NM_001171510.2 , NM_001171509.2 , NM_001171509.3 , NM_001171510.3
Accession Version NM_001171509.2 Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 285bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2018-09-21
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform B
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA324623.1, DA330030.1, BC037845.1, AF537214.1 and AI371370.1. On Jun 17, 2010 this sequence version replaced NM_001171509.1. Transcript Variant: This variant (5) lacks the first coding exon, compared to variant 1. This difference results in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.155169.1, CR749562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164980.1
CDS154..438
Translation

Target ORF information:

RefSeq Version NM_001171509.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 5, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171509.2

ORF Insert Sequence:

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13873
Clone ID Related Accession (Same CDS sequence) NM_001171510.2 , NM_001171509.2 , NM_001171509.3 , NM_001171510.3
Accession Version NM_001171509.3 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 285bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-06-01
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform B
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA330030.1, BC037845.1, AF537214.1 and AI371370.1. On Jun 2, 2019 this sequence version replaced NM_001171509.2. Transcript Variant: This variant (5) lacks the first coding exon, compared to variant 1. This difference results in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CR749562.1, SRR7346977.1773802.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164980.1
CDS92..376
Translation

Target ORF information:

RefSeq Version NM_001171509.3
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 5, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171509.3

ORF Insert Sequence:

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13873
Clone ID Related Accession (Same CDS sequence) NM_001171510.2 , NM_001171509.2 , NM_001171509.3 , NM_001171510.3
Accession Version NM_001171510.3 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 285bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-06-01
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform B
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA404031.1, DB096245.1, AF537214.1 and AI371370.1. On Jun 2, 2019 this sequence version replaced NM_001171510.2. Transcript Variant: This variant (6) lacks the first coding exon and differs in the 5' UTR, compared to variant 1. These differences result in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.228163.1, SRR1803612.261743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164981.1
CDS81..365
Translation

Target ORF information:

RefSeq Version NM_001171510.3
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 6, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171510.3

ORF Insert Sequence:

1
61
121
181
241
ATGGAGCATC TAGAAGGTGT CATCAACAAA CCAGAGGCGG AGATGTCGCC ACAAGAATTG 
CAGCTCCATT ACTTCAAAAT GCATGATTAT GATGGCAATA ATTTGCTTGA TGGCTTAGAA 
CTCTCCACAG CCATCACTCA TGTCCATAAG GAGGAAGGGA GTGAACAGGC ACCACTAATG 
AGTGAAGATG AACTGATTAA CATAATAGAT GGTGTTTTGA GAGATGATGA CAAGAACAAT 
GATGGATACA TTGACTATGC TGAATTTGCA AAATCACTGC AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13915
Clone ID Related Accession (Same CDS sequence) NM_001171507.2 , NM_001171506.2 , NM_001171508.2 , NM_139279.5
Accession Version NM_001171507.2 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 441bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-04-08
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform A precursor
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA404031.1, AF537214.1 and AI371370.1. This sequence is a reference standard in the RefSeqGene project. On Jun 17, 2010 this sequence version replaced NM_001171507.1. Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA404031.1, SRR1803614.131787.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164978.1
CDS139..579
Translation

Target ORF information:

RefSeq Version NM_001171507.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171507.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13915
Clone ID Related Accession (Same CDS sequence) NM_001171507.2 , NM_001171506.2 , NM_001171508.2 , NM_139279.5
Accession Version NM_001171506.2 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 441bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-04-08
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform A precursor
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA324623.1, DA330030.1, CF994192.1, AF537214.1 and AI371370.1. This sequence is a reference standard in the RefSeqGene project. On Jun 17, 2010 this sequence version replaced NM_001171506.1. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.118096.1, SRR1660803.241586.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164977.1
CDS247..687
Translation

Target ORF information:

RefSeq Version NM_001171506.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171506.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13915
Clone ID Related Accession (Same CDS sequence) NM_001171507.2 , NM_001171506.2 , NM_001171508.2 , NM_139279.5
Accession Version NM_001171508.2 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 441bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-04-08
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform A precursor
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC332658.1, DC321899.1, AK292127.1, AF537214.1 and AI371370.1. This sequence is a reference standard in the RefSeqGene project. On Jun 17, 2010 this sequence version replaced NM_001171508.1. Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.215534.1, SRR1803617.276733.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164979.1
CDS291..731
Translation

Target ORF information:

RefSeq Version NM_001171508.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 4, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171508.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13915
Clone ID Related Accession (Same CDS sequence) NM_001171507.2 , NM_001171506.2 , NM_001171508.2 , NM_139279.5
Accession Version NM_139279.5 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 441bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-06-10
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform A precursor
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA324623.1, DA330030.1, AF537214.1 and AI371370.1. This sequence is a reference standard in the RefSeqGene project. On Jun 17, 2010 this sequence version replaced NM_139279.4. Transcript Variant: This variant (1) encodes isoform A. Variants 1, 2, 3 and 4 encode the same isoform (A). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA324623.1, AL833900.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2145245 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
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421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_644808.1
CDS153..593
Translation

Target ORF information:

RefSeq Version NM_139279.5
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_139279.5

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGACCATGA GATCCCTGCT CAGAACCCCC TTCCTGTGTG GCCTGCTCTG GGCCTTTTGT 
GCCCCAGGCG CCAGGGCTGA GGAGCCTGCA GCCAGCTTCT CCCAACCCGG CAGCATGGGC 
CTGGATAAGA ACACAGTGCA CGACCAAGAG CATATCATGG AGCATCTAGA AGGTGTCATC 
AACAAACCAG AGGCGGAGAT GTCGCCACAA GAATTGCAGC TCCATTACTT CAAAATGCAT 
GATTATGATG GCAATAATTT GCTTGATGGC TTAGAACTCT CCACAGCCAT CACTCATGTC 
CATAAGGAGG AAGGGAGTGA ACAGGCACCA CTAATGAGTG AAGATGAACT GATTAACATA 
ATAGATGGTG TTTTGAGAGA TGATGACAAG AACAATGATG GATACATTGA CTATGCTGAA 
TTTGCAAAAT CACTGCAGTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu13973
Clone ID Related Accession (Same CDS sequence) NM_001171511.2
Accession Version NM_001171511.2 Latest version! Documents for ORF clone product in default vector
Sequence Information ORF Nucleotide Sequence (Length: 384bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-04-08
Organism Homo sapiens(human)
Product multiple coagulation factor deficiency protein 2 isoform C
Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC332658.1, DC321899.1, AK293889.1, AK292127.1, AF537214.1 and AI371370.1. On Jun 17, 2010 this sequence version replaced NM_001171511.1. Transcript Variant: This variant (7) contains a distinct 5' UTR and 5' coding region, compared to variant 1. These differences result in the use of a novel start codon, compared to variant 1 and a protein (isoform C) with a novel N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DC332658.1, SRR1803614.60876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## 

1
61
121
181
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361
ATGCTCAGCG TCTGCAGCTG CCGGACCAGC TCCGGCATGC GGTCCCAGTG GCCCTCGGCG 
CGGCAGCGCT CCAGCTCGCT CTCCACCTTC AGGCATATCA TGGAGCATCT AGAAGGTGTC 
ATCAACAAAC CAGAGGCGGA GATGTCGCCA CAAGAATTGC AGCTCCATTA CTTCAAAATG 
CATGATTATG ATGGCAATAA TTTGCTTGAT GGCTTAGAAC TCTCCACAGC CATCACTCAT 
GTCCATAAGG AGGAAGGGAG TGAACAGGCA CCACTAATGA GTGAAGATGA ACTGATTAAC 
ATAATAGATG GTGTTTTGAG AGATGATGAC AAGAACAATG ATGGATACAT TGACTATGCT 
GAATTTGCAA AATCACTGCA GTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001164982.1
CDS193..576
Translation

Target ORF information:

RefSeq Version NM_001171511.2
Organism Homo sapiens(human)
Definition Homo sapiens multiple coagulation factor deficiency 2 (MCFD2), transcript variant 7, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001171511.2

ORF Insert Sequence:

1
61
121
181
241
301
361
ATGCTCAGCG TCTGCAGCTG CCGGACCAGC TCCGGCATGC GGTCCCAGTG GCCCTCGGCG 
CGGCAGCGCT CCAGCTCGCT CTCCACCTTC AGGCATATCA TGGAGCATCT AGAAGGTGTC 
ATCAACAAAC CAGAGGCGGA GATGTCGCCA CAAGAATTGC AGCTCCATTA CTTCAAAATG 
CATGATTATG ATGGCAATAA TTTGCTTGAT GGCTTAGAAC TCTCCACAGC CATCACTCAT 
GTCCATAAGG AGGAAGGGAG TGAACAGGCA CCACTAATGA GTGAAGATGA ACTGATTAAC 
ATAATAGATG GTGTTTTGAG AGATGATGAC AAGAACAATG ATGGATACAT TGACTATGCT 
GAATTTGCAA AATCACTGCA GTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

PubMed

book

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Haemophilia : the official journal of the World Federation of Hemophilia24(1)e13-e16(2018 Jan)
Suzuki S,Nakamura Y,Suzuki N,Yamazaki T,Takagi Y,Tamura S,Takagi A,Kanematsu T,Matsushita T,Kojima T


book

Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
Haemophilia : the official journal of the World Federation of Hemophilia20(6)e436-8(2014 Nov)
Wang A,Liu X,Wu J,Cai X,Zhu W,Sun Z


book

Combined deficiency of coagulation factors V and VIII: an update.
Seminars in thrombosis and hemostasis39(6)613-20(2013 Sep)
Zheng C,Zhang B


book

Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
The Journal of biological chemistry288(28)20499-509(2013 Jul)
Zheng C,Page RC,Das V,Nix JC,Wigren E,Misra S,Zhang B