MCFD2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

MCFD2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

• This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (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, Apr 2016]

• Gene Synonyms (multiple coagulation factor deficiency protein 2, multiple coagulation factor deficiency 2, neural stem cell-derived neuronal survival protein, F5F8D, F5F8D2, LMAN1IP, SDNSF,)
• NCBI Gene ID: 90411
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8NI22
  UNIPROT ID#>>B4DF17
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit interacts with:

• CKLF like MARVEL transmembrane domain containing 5
  coiled-coil-helix-coiled-coil-helix domain containing 4
  NLR family pyrin domain containing 3

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.