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🧬 基因注释:DYRK1A

📝 官方信息

官方名称:dual specificity tyrosine phosphorylation regulated kinase 1A

功能摘要:This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • Tardbp 综合评分: 0.524 · 证据 1 条
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • HNRNPM 综合评分: 0.474 · 证据 2 条
  • FUS 综合评分: 0.444 · 证据 1 条
  • fus 综合评分: 0.444 · 证据 1 条
  • HNRNPA1 综合评分: 0.412 · 证据 2 条
  • HNRNPH1 综合评分: 0.412 · 证据 2 条
  • QKI 综合评分: 0.412 · 证据 1 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • FUBP1 综合评分: 0.312 · 证据 2 条
  • RBM15 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
DYRK1A-related intellectual disability syndrome
高关联 (0.781)
complex neurodevelopmental disorder
中关联 (0.621)
microcephaly
中关联 (0.608)
Intellectual disability
中关联 (0.555)
genetic disorder
中关联 (0.549)
Rare genetic intellectual disability with developmental anomaly
中关联 (0.534)
Seizure
中关联 (0.513)
absent or delayed speech development
中关联 (0.510)
Deeply set eye
中关联 (0.510)
Feeding difficulties
中关联 (0.507)
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