MCFD2 Chromosome 2
Multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
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What This Gene Does
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]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000180398
Associated Conditions (8)
Factor 5 and Factor VIII
combined deficiency of
2
Factor V and factor VIII
type 1
Thrombocytopenia
Abnormal bleeding
MCFD2-related disorder
Key Variants
RS142254354
Conflicting classifications of pathogenicity
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS201752014
Conflicting classifications of pathogenicity
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS1484184249
Likely pathogenic
Factor V and factor VIII, combined deficiency of, type 1
Health Risk
RS1572611822
Likely pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS1668185105
Likely pathogenic
Thrombocytopenia, Abnormal bleeding, Thrombocytopenia
Health Risk
RS387906286
Likely pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS1253799389
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS1294221028
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS137852913
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS137852914
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS1558461545
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
RS387906287
Pathogenic
Factor 5 and Factor VIII, combined deficiency of, 2
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142254354 | Health Risk | Conflicting classifications of pathogenicity | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS201752014 | Health Risk | Conflicting classifications of pathogenicity | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS1484184249 | Health Risk | Likely pathogenic | Factor V and factor VIII, combined deficiency of, type 1 |
| RS1572611822 | Health Risk | Likely pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS1668185105 | Health Risk | Likely pathogenic | Thrombocytopenia, Abnormal bleeding, Thrombocytopenia |
| RS387906286 | Health Risk | Likely pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS1253799389 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS1294221028 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS137852913 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS137852914 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS1558461545 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS387906287 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |
| RS78289603 | Health Risk | Pathogenic | Factor 5 and Factor VIII, combined deficiency of, 2 |