🧬 基因注释：COL5A2
📝 官方信息
官方名称：collagen type V alpha 2 chain
功能摘要：This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPM 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF2 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbm7 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf4 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录