Entity Details

Primary name MCFD2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NI22
EntryNameMCFD2_HUMAN
FullNameMultiple coagulation factor deficiency protein 2
TaxID9606
Evidenceevidence at protein level
Length146
SequenceStatuscomplete
DateCreated2004-06-21
DateModified2021-06-02

Ontological Relatives

GenesMCFD2

GO terms

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GOName
GO:0005509 calcium ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0012507 ER to Golgi transport vesicle membrane
GO:0015031 protein transport
GO:0018279 protein N-linked glycosylation via asparagine
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0048208 COPII vesicle coating

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Endoplasmic reticulum-Golgi intermediate compartment
Golgi apparatus

Domains

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DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
613625 OMIMFactor V and factor VIII combined deficiency 2 (F5F8D2)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00025 Antihemophilic factor, human recombinantDrugbankbiotech
DB13998 Lonoctocog alfaDrugbankbiotech
DB13999 Moroctocog alfaDrugbankbiotech