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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
p21
Chromosome location (bp)
46901870 - 46941855
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
ER-Golgi transport, Protein transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
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Transporters MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
H7BZ18 [Direct mapping] Multiple coagulation factor deficiency protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Q8NI22 [Direct mapping] Multiple coagulation factor deficiency protein 2
Show all
Transporters DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005793[endoplasmic reticulum-Golgi intermediate compartment] GO:0005794[Golgi apparatus] GO:0012507[ER to Golgi transport vesicle membrane] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
