WNT9B(Wingless-type MMTV integration site family member 9B)属于WNT基因家族,该家族由分泌型糖蛋白组成,通过WNT信号通路调控胚胎发育、细胞增殖、分化及组织稳态。WNT家族共性包括:依赖脂质修饰(如棕榈酰化)实现分泌,通过结合Frizzled受体和LRP共受体激活β-catenin依赖的经典通路或非经典通路(如平面细胞极性通路)。WNT9B主要在泌尿系统(如肾脏、输尿管)、骨骼和生殖系统中表达,其编码蛋白通过经典通路促进间充质-上皮转化(MET),对肾脏集合管分支和输尿管芽形成至关重要。突变可能导致先天性肾盂输尿管连接部梗阻(UPJO)或肾发育不良,而动物模型中敲除WNT9B会引发输尿管芽分支缺陷和肾单位减少。过表达WNT9B可能激活异常β-catenin信号,与某些癌症(如肾细胞癌)的增殖相关,但具体机制尚不明确。低表达则可能影响组织再生能力。WNT9B与WNT9A有较高同源性,两者可能功能冗余,但WNT9B在泌尿系统发育中作用更突出。专业术语解释:间充质-上皮转化(MET)指细胞从迁移性间充质状态转变为极性化的上皮状态;棕榈酰化是一种脂质修饰,影响蛋白质的膜定位和分泌。目前中文译名"无翅型MMTV整合位点家族"(Wingless-type MMTV integration site family)为直译,但"WNT家族"更常用。
The WNT gene family consists of structurally related genes that 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. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]
Wnt信号基因家族由编码分泌信号蛋白结构相关的基因。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。研究其在畸胎瘤细胞系NT2表现表明,它可能通过维甲酸诱导NT2细胞的神经元分化的早期过程中受到牵连。该基因簇与WNT3,其他家庭成员,在染色体17q21上的区域。 [由RefSeq的,2008年7月提供]
WNT9B基因(以及对应的蛋白质)的细胞分布位置:
WNT9B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 |
Cleft Palate | 0.007372538 | 4 | 0 | BeFree_GAD |
Cleft Lip | 0.007372538 | 4 | 0 | BeFree_GAD |
Dental Enamel Hypoplasia | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Rokitansky Kuster Hauser syndrome | 0.000542884 | 2 | 0 | BeFree |
Bladder Exstrophy | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
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