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🧬 基因注释:HNRNPH2

📝 官方信息

官方名称:heterogeneous nuclear ribonucleoprotein H2

功能摘要:This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.486 · 证据 1 条
  • fus 综合评分: 0.486 · 证据 1 条
  • ELAVL3 综合评分: 0.363 · 证据 1 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • SRSF2 综合评分: 0.362 · 证据 1 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • RBM10 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 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
  • Srsf3 综合评分: 0.274 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • U2af1 综合评分: 0.212 · 证据 1 条
  • MBNL2 综合评分: 0.200 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
🏥 关联疾病
intellectual disability, X-linked, syndromic, Bain type
高关联 (0.788)
Neurodevelopmental disorder
中关联 (0.456)
genetic disorder
中关联 (0.442)
dengue disease
低关联 (0.371)
X-linked complex neurodevelopmental disorder
低关联 (0.370)
Neurodevelopmental delay
低关联 (0.348)
stereotypic movement disorder
低关联 (0.340)
Abnormal facial shape
低关联 (0.340)
Fabry disease
低关联 (0.181)
Angiokeratoma corporis diffusum
低关联 (0.169)
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