🧬 基因注释：RUNX2
官方名称：RUNX family transcription factor 2
功能摘要：This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016].
- CELF2 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- ELAVL3 置信度: 1.0
- MSI1 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Ptbp2 置信度: 1.0
- QKI 置信度: 1.0
- Rbm7 置信度: 1.0
该基因暂无关联疾病记录