🧬 基因注释：NIPBL

官方名称：NIPBL cohesin loading factor

功能摘要：This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

• HNRNPM 综合评分: 0.474 · 证据 2 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• HNRNPK 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• TIA1 综合评分: 0.410 · 证据 1 条
• HNRNPL 综合评分: 0.398 · 证据 2 条
• FUS 综合评分: 0.362 · 证据 1 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• Srsf3 综合评分: 0.362 · 证据 1 条
• fus 综合评分: 0.362 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• RBM39 综合评分: 0.312 · 证据 2 条
• HNRNPD 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

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