基因注释：PDGFRB

官方名称：platelet derived growth factor receptor beta

功能摘要：The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017].

• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• Tardbp 综合评分: 0.248 · 证据 1 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• MSI1 综合评分: 0.150 · 证据 1 条
• Srsf2 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录