SOX17属于SOX基因家族(SRY相关HMG-box家族),该家族成员均含有高度保守的HMG-box结构域,能够结合DNA并调控基因表达。SOX17在胚胎发育中起关键作用,尤其在原始生殖细胞、内胚层形成及心血管系统发育中不可或缺。它主要表达于内胚层来源的组织如肺、肝、胰腺和肠道,并通过调控Wnt/β-catenin等信号通路参与细胞命运决定。SOX17蛋白作为转录因子,可激活或抑制下游靶基因(如FOXA2、OCT4),其功能异常与多种疾病相关。例如,SOX17突变可能导致先天性心脏病、胆汁淤积或生殖细胞发育缺陷;在癌症中,SOX17常作为抑癌基因,其启动子甲基化或缺失与结直肠癌、肝癌的进展相关。若SOX17过表达,可能抑制肿瘤细胞增殖并促进分化,但异常高表达也可能干扰胚胎发育的时空协调性;反之,表达降低会损害内胚层器官形成,增加肿瘤侵袭风险。SOX基因家族的共性包括:通过HMG-box域以序列特异性方式结合DNA(典型靶序列为AACAAT),参与发育调控、细胞命运决定和干细胞多能性维持,且多数成员在突变后会导致发育异常或疾病。SOX17与SOX7、SOX18构成F亚家族,三者在内皮细胞功能调控中具有部分冗余性。
None
Subcellular localization of SOX17 (and its protein):
Gene Ontology (GO) terms for SOX17:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| Name |
|---|
| deactivation of the beta-catenin transactivating complex |
| Signaling by Wnt |
| TCF dependent signaling in response to WNT |
| Disease | Score | NofPmids | NofSnps | Source |
| VESICOURETERAL REFLUX 3 | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
| Colorectal Neoplasms | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
| Teratogenesis | 0.12 | 1 | 0 | CTD_human |
| Cholangiocarcinoma | 0.08 | 1 | 0 | RGD |
| Intracranial Aneurysm | 0.005276948 | 4 | 2 | BeFree_GAD |
| Embryonal Carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Lymphedema | 0.002367032 | 1 | 0 | GAD |
| Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
| Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
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