🧬 基因注释：OBSCN

官方名称：obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

功能摘要：The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

• RBFOX2 综合评分: 0.486 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.398 · 证据 2 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• SRSF2 综合评分: 0.362 · 证据 1 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• CELF2 综合评分: 0.294 · 证据 2 条
• Rnps1 综合评分: 0.274 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条

该基因暂无关联疾病记录