🧬 基因注释：PAX6

官方名称：paired box 6

功能摘要：This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019].

• Tardbp 综合评分: 0.372 · 证据 1 条
• RBM10 综合评分: 0.312 · 证据 2 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• Rnps1 综合评分: 0.162 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• GRSF1 综合评分: 0.150 · 证据 2 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• Rbpms 综合评分: 0.100 · 证据 1 条
• Srsf7 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条

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