🧬 基因注释：SHOX2
官方名称：SHOX homeobox 2
功能摘要：This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009].
- CPSF4 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM10 置信度: 2.0
- RBM39 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- MSI1 置信度: 1.0
- NXF1 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- SRSF2 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf7 置信度: 1.0
该基因暂无关联疾病记录