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 named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]

Uniprot Accession IDs

• Q8NI22
• A8K7W2
• D6W5A9
• E9PD95
• Q53SS3
• Q68D61
• Q8N3M5

Gene Name

• MCFD2

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

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

PANTHER Classes

Protein / Transporter / Multiple Coagulation Factor Deficiency Protein 2

DTO Classes

Protein / Transporter / Multiple Coagulation Factor Deficiency Protein 2

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: 29.82   (req: < 5)

Gene RIFs: 24   (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: 29.82   (req: >= 5)

Gene RIFs: 24   (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