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].
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.
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.
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.
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.
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.
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.
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.
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 DA330030.1, AF537214.1 and AI371370.1. On Aug 31, 2019 this sequence version replaced NM_139279.5.
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 :: AL833900.1, BC040357.2 [ECO:0000332]
##Evidence-Data-END##
##RefSeq-Attributes-START##
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
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.
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.
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##