Version 5.4
Mus musculus Gene: Mcfd2
Summary
InnateDB Gene IDBG-201358.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mcfd2
Gene Name multiple coagulation factor deficiency 2
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000024150
Encoded Proteins
IDBP-201360
multiple coagulation factor deficiency 2
IDBP-535216
multiple coagulation factor deficiency 2
IDBP-537936
multiple coagulation factor deficiency 2
IDBP-537258
multiple coagulation factor deficiency 2
IDBP-534489
multiple coagulation factor deficiency 2
IDBP-540319
multiple coagulation factor deficiency 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000180398:
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (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, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:87254658-87265935
Strand Reverse strand
Band E4
Transcripts
ENSMUST00000024963 ENSMUSP00000024963
ENSMUST00000144236 ENSMUSP00000121820
ENSMUST00000129616 ENSMUSP00000123352
ENSMUST00000151155 ENSMUSP00000119856
ENSMUST00000145895 ENSMUSP00000117105
ENSMUST00000155904 ENSMUSP00000114354
ENSMUST00000139258
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005509 calcium ion binding
Biological Process
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0019752 carboxylic acid metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000180398
View Gene Order
ENSBTAG00000003358
Not yet available
Pathways
NETPATH
REACTOME
REACT_206143
Transport to the Golgi and subsequent modification pathway
REACT_247926
Metabolism of proteins pathway
REACT_236283
Post-translational protein modification pathway
REACT_237472
Asparagine N-linked glycosylation pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_25046
Transport to the Golgi and subsequent modification pathway
REACT_22426
Asparagine N-linked glycosylation pathway
REACT_22161
Post-translational protein modification pathway
REACT_17015
Metabolism of proteins pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.30251 Mm.473270
RefSeq NM_139295 NM_176808 XM_006523900 XM_006523901
OMIM
CCDS CCDS29015
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca