MCFD2

MCFD2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2VRG, 3A4U, 3LCP, 3WHT, 3WHU, 3WNX, 4YGE, 4YGD, 4YGB, 4YGC
Identifiers
Aliases	MCFD2 , F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
External IDs	OMIM: 607788 MGI: 2183439 HomoloGene: 44552 GeneCards: MCFD2
Gene location (Human)
Chr.	Chromosome 2 (human)
End	46,941,855 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	87,573,363 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; seminal vesicula; ; pericardium; ; stromal cell of endometrium; ; Left adrenal gland; ; adrenal cortex; ; Right adrenal gland; ; body of pancreas; ; germinal epithelium; ; retinal pigment epithelium;
	Top expressed in
	parotid gland; ; lacrimal gland; ; seminal vesicula; ; submandibular gland; ; left lobe of liver; ; pyloric antrum; ; saccule; ; ileum; ; jejunum; ; adrenal gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding ; metal ion binding ; protein binding ;
Cellular component	ER to Golgi transport vesicle membrane ; Golgi apparatus ; endoplasmic reticulum membrane ; endoplasmic reticulum ; endoplasmic reticulum-Golgi intermediate compartment membrane ; endoplasmic reticulum-Golgi intermediate compartment ; Golgi membrane ;
Biological process	protein transport ; endoplasmic reticulum to Golgi vesicle-mediated transport ; COPII vesicle coating ; vesicle-mediated transport ; protein N-linked glycosylation via asparagine ;
	Sources:Amigo / QuickGO
Orthologs
	90411
	193813
	ENSG00000180398
	ENSMUSG00000024150
	Q8NI22
	Q8K5B2
NM_139279 ; NM_001171506 ; NM_001171507 ; NM_001171508 ; NM_001171509 ;
	NM_001171510 ; NM_001171511
	NM_139295 ; NM_176808
NP_001164977 ; NP_001164978 ; NP_001164979 ; NP_001164980 ; NP_001164981 ;
	NP_001164982 ; NP_644808
	NP_647456 ; NP_789778
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 12, 2022

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.

Related Research Articles

Caspase-10 is an enzyme that, in humans, is encoded by the CASP10 gene.

Protease activated receptor 3 (PAR-3) also known as coagulation factor II receptor-like 2 (F2RL2) and thrombin receptor-like 2, is a protein that in humans is encoded by the F2RL2 gene.

Lysophosphatidic acid receptor 2 also known as LPA₂ is a protein that in humans is encoded by the LPAR2 gene. LPA₂ is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).

Neuromedin-U receptor 1 is a protein that in humans is encoded by the NMUR1 gene.

Endothelial protein C receptor (EPCR) also known as activated protein C receptor is a protein that in humans is encoded by the PROCR gene. PROCR has also recently been designated CD201.

Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa protein or lectin mannose-binding 1 is a protein that in humans is encoded by the LMAN1 gene.

LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene.

Eukaryotic translation initiation factor 2 subunit 2 (eIF2β) is a protein that in humans is encoded by the EIF2S2 gene.

Interleukin 13 receptor, alpha 1, also known as IL13RA1 and CD213A1, is a human gene.

Galactoside 2-alpha-L-fucosyltransferase 2 is an enzyme that in humans is encoded by the FUT2 gene. It affects the secretor status of ABO antigens.

Protein Wnt-7a is a protein that in humans is encoded by the WNT7A gene.

Dynein light chain Tctex-type 1 is a protein that in humans is encoded by the DYNLT1 gene.

40-kDa huntingtin-associated protein is a protein that in humans is encoded by the F8A1, F8A2, and F8A3 genes.

Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 is a protein that in humans is encoded by the GNG3 gene.

Rap guanine nucleotide exchange factor 2 is a protein that in humans is encoded by the RAPGEF2 gene.

Fibroblast growth factor 6 is a protein that in humans is encoded by the FGF6 gene.

Endoplasmic reticulum-Golgi intermediate compartment protein 2 (ERGIC2) is a gene located on human chromosome 12p11. It encodes a protein of 377 amino acid residues. ERGIC2 protein is also known as PTX1, CDA14 or Erv41.

Vesicular integral-membrane protein VIP36 is a protein that in humans is encoded by the LMAN2 gene.

In molecular biology the L-like lectin domain is a protein domain found in lectins which are similar to the leguminous plant lectins.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000180398 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024150 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

Nyfeler B, Zhang B, Ginsburg D, et al. (2007). "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex" (PDF). Traffic. 7 (11): 1473–81. doi: 10.1111/j.1600-0854.2006.00483.x . PMID 17010120. S2CID 22483569.
Mohanty D, Ghosh K, Shetty S, et al. (2005). "Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII". Am. J. Hematol. 79 (4): 262–6. doi: 10.1002/ajh.20397 . PMID 16044454. S2CID 30602878.
Zhang B, Kaufman RJ, Ginsburg D (2005). "LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway". J. Biol. Chem. 280 (27): 25881–6. doi: 10.1074/jbc.M502160200 . PMID 15886209.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID 15815621.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Spatuzza C, Renna M, Faraonio R, et al. (2004). "Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway". J. Biol. Chem. 279 (41): 42535–44. doi: 10.1074/jbc.M401860200 . PMID 15292203.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID 14702039.
Toda H, Tsuji M, Nakano I, et al. (2003). "Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells". J. Biol. Chem. 278 (37): 35491–500. doi: 10.1074/jbc.M305342200 . PMID 12832409.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Nichols WC, Terry VH, Wheatley MA, et al. (1999). "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood. 93 (7): 2261–6. PMID 10090935.
Neerman-Arbez M, Johnson KM, Morris MA, et al. (1999). "Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency". Blood. 93 (7): 2253–60. doi:10.1182/blood.V93.7.2253. PMID 10090934.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000180398 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12717434-5] 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.

[pmid2463956-6] 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.

[entrez-7] "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

MCFD2

Related Research Articles

References

Further reading