MCFD2

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.[5][6][7] Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.

MCFD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
External IDsOMIM: 607788 MGI: 2183439 HomoloGene: 44552 GeneCards: MCFD2
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p21Start46,901,870 bp[1]
End46,941,855 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

90411

193813

Ensembl

ENSG00000180398

ENSMUSG00000024150

UniProt

Q8NI22

Q8K5B2

RefSeq (mRNA)

NM_139295
NM_176808

RefSeq (protein)

NP_647456
NP_789778

Location (UCSC)Chr 2: 46.9 – 46.94 MbChr 17: 87.25 – 87.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


References

  1. GRCh38: Ensembl release 89: ENSG00000180398 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024150 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D (May 2003). "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex". Nat Genet. 34 (2): 220–5. doi:10.1038/ng1153. PMID 12717434. S2CID 19281158.
  6. Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW (Mar 1989). "Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene". Gene. 71 (1): 123–34. doi:10.1016/0378-1119(88)90084-4. PMID 2463956.
  7. "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

Further reading


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