InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MCFD2

Summary

InnateDB Protein

IDBP-293550.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MCFD2

Protein Name

multiple coagulation factor deficiency 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000387082

InnateDB Gene

IDBG-50655 (MCFD2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12717434}.

Subcellular Localization

Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269PubMed:12717434}. Endoplasmic reticulum {ECO:0000269PubMed:12717434}. Golgi apparatus {ECO:0000269PubMed:12717434}.

Disease Associations

Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269PubMed:12717434}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0005794	Golgi apparatus
GO:0012507	ER to Golgi transport vesicle membrane