🧬 基因注释：MCOLN2
📝 官方信息
官方名称：mucolipin TRP cation channel 2
功能摘要：Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009].
🎯 作为靶基因的剪接因子
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- FUBP1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPL 置信度: 2.0
- KHSRP 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- NXF1 置信度: 1.0
- Rbmx 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录