NTRK2是致病基因，编码蛋白（神经营养受体酪氨酸激酶2）是一种受体酪氨酸激酶，其对正常神经发育很重要。NTRK2由胞外配体结合结构域、跨膜结构域和携带酪氨酸激酶结构域的细胞内区域组成。在神经细胞中与三种配体之一结合即可发生正常活化，三种配体分别是神经生长因子（NGF），脑源性神经营养因子（BDNF），神经营养因子-3（NT-3），进而导致下游信号通路的自身磷酸化和激活。通过MAPK，PI3K和PLC-γ控制和促进细胞增殖、存活和分化。NTRK2突变（特别是融合），在肺癌，毛细胞星形细胞瘤，神经母细胞瘤等几种人类癌症中发现。

NTRK2, a receptor tyrosine kinase, is altered by mutation or chromosomal rearrangement in a diverse range of cancers.The NTRK2 gene (neurotrophic receptor tyrosine kinase 2) encodes a transmembrane neurotrophic receptor involved in signaling that is important for normal neurologic development. NTRK2 consists of an extracellular ligand-binding domain, a transmembrane domain and an intracellular region harboring the tyrosine kinase domain. Normal activation in neural cells occurs upon binding one of its three ligands, the nerve growth factor (NGF), the brain-derived neurotrophic factor (BDNF) or neurotrophin-3 (NT-3), leading to autophosphorylation and activation of downstream signaling pathways controlling and promoting cell proliferation, survival and differentiation via MAPK, PI3K and PLC-γ. NTRK2 alterations, especially fusions, are found in several human cancers, such as lung cancer, pilocytic astrocytoma, and neuroblastoma.

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