WNT4 (Wnt family member 4)
- symbol:
- WNT4
- locus group:
- protein-coding gene
- location:
- 1p36.12
- gene_family:
- Wingless-type MMTV integration site family|Endogenous ligands
- alias symbol:
- WNT-4
- alias name:
- None
- entrez id:
- 54361
- ensembl gene id:
- ENSG00000162552
- ucsc gene id:
- uc001bfs.5
- refseq accession:
- NM_030761
- hgnc_id:
- HGNC:12783
- approved reserved:
- 2000-07-31
WNT4（Wingless-Type MMTV Integration Site Family Member 4）属于WNT基因家族，该家族编码分泌型糖蛋白，在胚胎发育、细胞增殖和分化等过程中起关键作用。WNT4蛋白通过WNT信号通路（如经典的β-catenin依赖通路和非经典通路）调控靶基因表达，主要作用位点包括生殖系统（如卵巢和睾丸发育）、肾脏形成及骨骼发育。在女性中，WNT4对苗勒管（Müllerian duct）分化为输卵管、子宫等结构至关重要；在男性中则抑制雄性激素合成相关基因的表达。突变可能导致生殖系统异常，如46,XX性发育障碍（46,XX DSD，患者有卵巢但外生殖器男性化）或苗勒管发育不全（如MRKH综合征）。WNT4过表达可能激活β-catenin通路异常增殖（如某些卵巢癌），而表达降低则与肾脏发育缺陷（如肾缺如）或骨质疏松相关。WNT基因家族的共性是通过保守的半胱氨酸残基与受体（如Frizzled）结合，调控细胞间通讯。该家族成员在进化上高度保守，多数通过自分泌或旁分泌方式影响组织形态发生。目前“WNT”中文译名“无翅型”虽常用，但部分文献直接使用英文原名以避免歧义。
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, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [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基因家族的成员，并且是示出以影响性别决定级联中的第一个信号分子。它编码表示98％的氨基酸同一性的小鼠和大鼠的Wnt4基因蛋白的蛋白质。此基因和已知的拮抗睾丸决定因素在女性发展的同时在控制和预防睾丸形成中起协同作用，核受体。该基因与另外两个家庭成员，WNT2和WNT7B，可能与乳腺组织异常增生有关。在这个基因的突变会导致罗 - 库斯特-豪瑟综合征和在SERKAL综合征。 [由RefSeq的，2008年7月提供]
基因本体信息
WNT4基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
WNT4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] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 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 |
|---|
| beta-catenin independent WNT signaling |
| Class B/2 (Secretin family receptors) |
| GPCR ligand binding |
| negative regulation of TCF-dependent signaling by WNT ligand antagonists |
| PCP/CE pathway |
| Signaling by Wnt |
| TCF dependent signaling in response to WNT |
| WNT ligand biogenesis and trafficking |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mullerian Aplasia and Hyperandrogenism | 0.48 | 3 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Epithelial ovarian cancer | 0.240271442 | 1 | 1 | BeFree_CTD_human_GWASCAT |
| Endometriosis | 0.123452799 | 5 | 2 | BeFree_GAD_GWASCAT |
| Rokitansky Kuster Hauser syndrome | 0.122171535 | 8 | 0 | BeFree_CTD_human |
| Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
| Female Urogenital Diseases | 0.12 | 1 | 0 | CTD_human |
| Dwarfism | 0.12 | 1 | 0 | CTD_human |
| Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Acute kidney injury | 0.08 | 1 | 0 | RGD |
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