🧬 基因注释：NBEA

官方名称：neurobeachin

功能摘要：This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011].

• HNRNPH1 综合评分: 0.448 · 证据 2 条
• HNRNPM 综合评分: 0.448 · 证据 2 条
• Nova2 综合评分: 0.448 · 证据 1 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• KHSRP 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• Srsf3 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
• MBNL1 综合评分: 0.350 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 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
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• CSTF2 综合评分: 0.274 · 证据 2 条
• EWSR1 综合评分: 0.250 · 证据 2 条

该基因暂无关联疾病记录