Symbol: Name: ID: |
MCFD2 multiple coagulation factor deficiency 2 GFS:7301 |
Gene name: | MCFD2 |
Chromosome: | 2p21 |
Previous Symbols: | |
Previous Names: | |
Aliases: | F5F8D, LMAN1IP, SDNSF |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2183439 | Rat Genome Database ID: | RGD:628690 |
HGNC ID: | HGNC:18451 | RefSeq IDs: | NM_001171506 |
Entrez Gene ID: | 90411 | Ensembl Gene ID: | ENSG00000180398 |
VEGA IDs: | OTTHUMG00000153100 | UniProt ID: | Q8NI22 |
UCSC ID: | uc002rvk.2 | OMIM ID: | 607788 |
Pubmed: | PMID12717434 PMID 2463956 | ||
CCDS IDs: | CCDSCCDS33192.1 |
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.
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].
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.
Products for MCFD2 gene
Catalog | Product Name | Application | Company |
GFS:E07301 | multiple coagulation factor deficiency 2; ELISA kit | ELISA | n/a |
GFS:A07301 | multiple coagulation factor deficiency 2; Anti | ANTIBODIES | n/a |
GFS:P07301 | multiple coagulation factor deficiency 2; Protien | Protien | n/a |