WNT6是WNT基因家族的重要成员之一,该家族由19种分泌型糖蛋白组成,主要参与调控胚胎发育、细胞增殖、分化及组织稳态等关键生物学过程。WNT家族蛋白通过经典WNT/β-catenin通路(激活下游靶基因)或非经典通路(如平面细胞极性通路和WNT/Ca²⁺通路)传递信号,影响细胞命运决定。WNT6在脊椎动物发育中表现出时空特异性表达模式,尤其在神经嵴细胞迁移、骨骼形成和生殖系统发育中起核心作用。其编码的蛋白质具有典型WNT家族特征:N端信号肽、高度保守的脂质修饰位点(棕榈酰化)以及结合卷曲受体(Frizzled)和共受体(如LRP5/6)的能力。WNT6功能异常与多种疾病相关,例如功能获得性突变可能导致过度激活WNT信号,与结直肠癌、成骨不全等疾病相关;而功能缺失性突变则可能引起发育缺陷如Robinow综合征(表现为肢体短缩和面部异常)。当WNT6过表达时,会异常激活β-catenin依赖的转录程序,促进细胞异常增殖(如肿瘤发生);同时可能抑制其他WNT配体(如WNT3A)的功能,导致信号通路失衡。反之,低表达WNT6会削弱间充质干细胞向成骨细胞分化能力,影响骨骼发育。该基因与家族其他成员(如WNT1、WNT3A)具有约50-80%的氨基酸序列同源性,但各成员在组织分布和功能上存在差异——例如WNT6与WNT10B共同调控颅面发育,而WNT1更侧重中枢神经系统发育。研究还发现WNT6在伤口修复中通过促进上皮-间质转化(EMT)加速组织再生,其表达水平变化可能成为相关疾病的生物标志物或治疗靶点。
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]
Wnt信号基因家族由结构相关基因,其编码分泌信号蛋白。这些蛋白质有牵连肿瘤发生并在几个发育过程,包括胚胎发育过程中细胞命运和图案化的调节。此基因是WNT基因家族的一个成员。它在宫颈癌细胞系高表达,并与其他家庭成员,WNT10A,在大肠癌细胞株共表达强烈。该基因过度表达可能在肿瘤发生中发挥关键作用。此基因和WNT10A基因都聚集在染色体2q35区域。由该基因编码的蛋白质是97%相同的氨基酸水平上的鼠标Wnt6蛋白。 [由RefSeq的,2008年7月提供]
WNT6基因(以及对应的蛋白质)的细胞分布位置:
WNT6基因的本体(GO)信息:
名称 |
---|
4310 Wnt signaling pathway [PATH:hsa04310] |
4340 Hedgehog signaling pathway [PATH:hsa04340] |
4390 Hippo signaling pathway [PATH:hsa04390] |
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
4916 Melanogenesis [PATH:hsa04916] |
5200 Pathways in cancer [PATH:hsa05200] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5217 Basal cell carcinoma [PATH:hsa05217] |
5166 HTLV-I infection [PATH:hsa05166] |
名称 |
---|
Class B/2 (Secretin family receptors) |
GPCR ligand binding |
Signaling by Wnt |
WNT ligand biogenesis and trafficking |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
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