🧬 基因注释：MCFD2
官方名称：multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
功能摘要：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].
- HNRNPC 综合评分: 0.474 · 证据 2 条
- PTBP1 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.448 · 证据 1 条
- FUS 综合评分: 0.444 · 证据 1 条
- fus 综合评分: 0.444 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- ELAVL3 综合评分: 0.322 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
该基因暂无关联疾病记录