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Tbio
MCFD2
Multiple coagulation factor deficiency protein 2

Protein Classes
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


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: 25.38   (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: 25.38   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
1
1
10.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
10.7
Protein Data Bank (10)
1 – 5 of 10
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (9)
Asparagine N-linked glycosylation (R-HSA-446203)

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

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
Gene Ontology Terms (8)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (114)
1 – 10 of 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
Publication Statistics
PubMed Score  25.38

PubMed score by year
PubTator Score  25.65

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer