MCFD2
Multiple Coagulation Factor Deficiency 2
Gene Information Card
| Symbol | MCFD2 |
|---|---|
| Full Name | Multiple Coagulation Factor Deficiency 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 90411 ncbi.nlm.nih.gov/gene/90411 |
| Ensembl ID | ENSG00000180398 |
| UniProt ID | Q8NI22 |
| OMIM ID | 607434 |
| HGNC ID | 18451 |
| Aliases | F5F8D2, SDNSF, MCFD2 |
Description
MCFD2 (Multiple Coagulation Factor Deficiency 2) encodes a protein that forms a complex with LMAN1 to mediate the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus. Mutations in MCFD2 cause combined deficiency of factors V and VIII (F5F8D), an autosomal recessive bleeding disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined deficiency of factor V and factor VIII (F5F8D) | Loss-of-function mutations impair ER-to-Golgi transport of FV and FVIII, reducing their secretion | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 9.2 | Medium |
| Pancreas | 6.8 | Low |
| Kidney | 5.1 | Low |
| Heart | 4.3 | Low |
| Brain | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocyte cell line |
| HEK293 | 8.1 | Embryonic kidney cells |
| K562 | 4.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein |
| c.106C>T (p.Arg36*) | Nonsense | Rare | Premature stop, loss of function |
| c.307C>T (p.Arg103*) | Nonsense | Rare | Premature stop, loss of function |
| c.341+1G>A | Splice site | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MCFD2 mutations are loss-of-function, leading to reduced or absent protein and impaired FV/FVIII secretion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • protein transport |
| • copper ion binding | • endoplasmic reticulum |
| • Golgi apparatus |
Pathways
• Coagulation factor transport (LMAN1-MCFD2 complex)
Protein Summary
MCFD2 is a 146-amino acid protein that contains an EF-hand domain and binds calcium. It forms a stable complex with LMAN1 (ERGIC-53) in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC). This complex is essential for the efficient secretion of coagulation factors V and VIII. Without functional MCFD2, FV and FVIII are retained in the ER and degraded, leading to combined deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCFD2 Knockout HEK293 Cell Line | EDJ-KQ3117 | Human | 90411 | Details Get a Quote |
| MCFD2 Knockout A-549 Cell Line | EDJ-KQ25830 | Human | 90411 | Details Get a Quote |
| MCFD2 Knockout HCT 116 Cell Line | EDJ-KQ25832 | Human | 90411 | Details Get a Quote |
| MCFD2 Knockout HeLa Cell Line | EDJ-KQ25833 | Human | 90411 | Details Get a Quote |
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