MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit)
2019-04-01 AffiliationIdentity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
F5F8D,F5F8D2,LMAN1IP,SDNSF
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 90411
MIM: 607788
HGNC: 18451
Ensembl: ENSG00000180398
Variants:
dbSNP: 90411
ClinVar: 90411
TCGA: ENSG00000180398
COSMIC: MCFD2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35322856 | 2022 | LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin. | 8 |
| 35322856 | 2022 | LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin. | 8 |
| 29082580 | 2018 | Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family. | 0 |
| 29679592 | 2018 | Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer. | 9 |
| 29082580 | 2018 | Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family. | 0 |
| 29679592 | 2018 | Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer. | 9 |
| 25354775 | 2014 | Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene. | 1 |
| 25354775 | 2014 | Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene. | 1 |
| 22764119 | 2013 | Inherited hematological disorders due to defects in coat protein (COP)II complex. | 9 |
| 23660967 | 2013 | Multiple coagulation factor deficiency protein 2 contains the ability to support stem cell self-renewal. | 3 |
| 23709226 | 2013 | Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII). | 35 |
| 23852824 | 2013 | Combined deficiency of coagulation factors V and VIII: an update. | 22 |
| 22764119 | 2013 | Inherited hematological disorders due to defects in coat protein (COP)II complex. | 9 |
| 23660967 | 2013 | Multiple coagulation factor deficiency protein 2 contains the ability to support stem cell self-renewal. | 3 |
| 23709226 | 2013 | Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII). | 35 |
Citation
Dessen P
MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57847/mcfd2-(multiple-coagulation-factor-deficiency-2-er-cargo-receptor-complex-subunit)
