🧬 基因注释：PPFIA2

官方名称：PPFI scaffold protein A2

功能摘要：The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].

• MBNL2 综合评分: 0.324 · 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
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• ELAVL3 综合评分: 0.274 · 证据 1 条
• Ptbp2 综合评分: 0.262 · 证据 1 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• NOVA1 综合评分: 0.200 · 证据 2 条
• Nova2 综合评分: 0.200 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• MSI1 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF1 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• RBM20 综合评分: 0.100 · 证据 2 条
• Rbmx 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录