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Tbio
MCFD2
Multiple coagulation factor deficiency protein 2

Protein Summary
Description
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. 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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000319466
  • ENSP00000317271
  • ENSG00000180398
  • ENST00000409105
  • ENSP00000386651
  • ENST00000409147
  • ENSP00000387082
  • ENST00000409207
  • ENSP00000386386
  • ENST00000409218
  • ENSP00000386261
  • ENST00000409800
  • ENSP00000387202
  • ENST00000409913
  • ENSP00000386941
  • ENST00000409973
  • ENSP00000386279
  • ENST00000412438
  • ENSP00000402717
  • ENST00000444761
  • ENSP00000394647

Symbol
  • SDNSF
  • F5F8D
  • SDNSF
  • F5F8D2
  • LMAN1IP
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.97
kinase perturbation
0.91
transcription factor binding site profile
0.85
histone modification site profile
0.8
microRNA
0.8


Protein Classes
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.72   (req: < 5)
Gene RIFs: 22   (req: <= 3)
Antibodies: 172   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.72   (req: >= 5)
Gene RIFs: 22   (req: > 3)
Antibodies: 172   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (114)
LMAN1
Tbio
Novelty:  0.00595367
Score:  0.999
Data Source:  Reactome,STRINGDB
F8
Tbio
Novelty:  0.0002287
Score:  0.983
Data Source:  Reactome,STRINGDB
LMAN2
Tbio
Novelty:  0.02922729
Score:  0.963
Data Source:  STRINGDB
LMAN2L
Tbio
Novelty:  0.04364985
Score:  0.96
Data Source:  STRINGDB
CTSZ
Tchem
Family:  Enzyme
Novelty:  0.0100016
Score:  0.954
Data Source:  STRINGDB
CTSC
Tchem
Family:  Enzyme
Novelty:  0.00119917
Score:  0.95
Data Source:  STRINGDB
F5
Tbio
Novelty:  0.00161772
Score:  0.947
Data Source:  Reactome,STRINGDB
SAR1B
Tbio
Family:  Enzyme
Novelty:  0.02260817
Score:  0.942
Data Source:  STRINGDB
LMAN1L
Tbio
Novelty:  0.24759008
Score:  0.94
Data Source:  STRINGDB
SEC24C
Tbio
Novelty:  0.05842956
Score:  0.94
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (9)
Asparagine N-linked glycosylation (R-HSA-446203)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Asparagine N-linked glycosylation
Reactome
COPII-mediated vesicle transport
Reactome
Cargo concentration in the ER
Reactome
ER to Golgi Anterograde Transport
Reactome
Membrane Trafficking
Name
Explore in Pharos
Explore in Source
Asparagine N-linked glycosylation
COPII-mediated vesicle transport
Cargo concentration in the ER
ER to Golgi Anterograde Transport
Membrane Trafficking
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (8)
Find Similar Targets
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
InterPro
Disease Associations ()
No disease associations found
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
2
1
2
75.6
hemoglobin measurement
2
1
2
73.9
mean reticulocyte volume
1
1
1
33.1
platelet crit
1
1
1
8.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
2
75.6
hemoglobin measurement
2
73.9
mean reticulocyte volume
1
33.1
platelet crit
1
8.4
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
multiple coagulation factor deficiency 2
VGNC:2924
459210
Macaque
multiple coagulation factor deficiency 2
717900
Mouse
MGI:2183439
193813
Rat
RGD:628690
246117
Dog
multiple coagulation factor deficiency 2
VGNC:43075
474582
Species
Name
OMA
EggNOG
Inparanoid
Chimp
multiple coagulation factor deficiency 2
Macaque
multiple coagulation factor deficiency 2
Mouse
Rat
Dog
multiple coagulation factor deficiency 2
Publication Statistics
PubMed Score 25.72
PubMed score by year
PubTator Score 25.65
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title