InnateDB Protein
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IDBP-293561.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MCFD2
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Protein Name
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multiple coagulation factor deficiency 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000386651
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InnateDB Gene
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IDBG-50655 (MCFD2)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269PubMed:12717434}. Endoplasmic reticulum {ECO:0000269PubMed:12717434}. Golgi apparatus {ECO:0000269PubMed:12717434}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NI22
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PhosphoSite |
PhosphoSite-Q8NI22
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TrEMBL |
C9JTR4
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UniProt Splice Variant |
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Entrez Gene |
90411
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UniGene |
Hs.662152
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RefSeq |
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HUGO |
HGNC:18451
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OMIM |
607788
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CCDS |
CCDS33192
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HPRD |
09693
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IMGT |
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EMBL |
AC016722
AC093732
AF475284
AF537214
AK292127
AL833900
BC037845
BC040357
CH471053
CR749562
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GenPept |
AAH37845
AAH40357
AAM28465
AAP23162
AAY15013
BAF84816
CAD38756
CAH18359
EAX00230
EAX00231
EAX00232
EAX00233
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