🧬 基因注释：BBS2

官方名称：Bardet-Biedl syndrome 2

功能摘要：This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014].

• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 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
• fus 综合评分: 0.300 · 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
• TIA1 综合评分: 0.250 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• SF3A3 综合评分: 0.200 · 证据 1 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• GRSF1 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Srsf3 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录