• Gene id: 90411

Gene Summary

• Gene Symbol: MCFD2   Gene   UCSC   Ensembl
• Aliases: F5F8D, F5F8D2, LMAN1IP, SDNSF
• Gene name: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
• Alternate names: multiple coagulation factor deficiency protein 2, multiple coagulation factor deficiency 2, neural stem cell-derived neuronal survival protein,
• Gene location: 2p21 (81099407: 81149178)     Exons: 11     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 607788

Protein Summary

• Protein general information: Q8NI22  
  • Name: Multiple coagulation factor deficiency protein 2 (Neural stem cell derived neuronal survival protein)
  • Length: 146  
  • Mass: 16390
• Sequence:

  MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLH
  YFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ

• Structural information:
  • Protein Domains: (68..10-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (116..14-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • PDB: 2VRG 3A4U 3LCP 3WHT 3WHU 3WNX 4YGB 4YGC 4YGD 4YGE
  • PDBsum: 2VRG 3A4U 3LCP 3WHT 3WHU 3WNX 4YGB 4YGC 4YGD 4YGE
  • DIP: 56233
  • STRING: ENSP00000386651
• Other Databases: GeneCards:  MCFD2  Malacards:  MCFD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

Associated diseases	References
Combined deficiency of factors V and VIII	KEGG:H00221
Combined deficiency of factors V and VIII	KEGG:H00221
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq