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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]
[中文简述(自动翻译):]  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]
WNT4基因(以及对应的蛋白质)的细胞分布位置:
WNT4基因的本体(GO)信息:
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 |
Dwarfism | 0.12 | 1 | 0 | CTD_human |
Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Female Urogenital Diseases | 0.12 | 1 | 0 | CTD_human |
Acute kidney injury | 0.08 | 1 | 0 | RGD |
Ulcerative Colitis | 0.004734064 | 2 | 1 | GAD |
Squamous cell carcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Pituitary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Adrenal Cortical Adenoma | 0.00272435 | 1 | 0 | LHGDN |
Dupuytren Contracture | 0.002367032 | 1 | 1 | GAD |
ovarian neoplasm | 0.002367032 | 1 | 1 | GAD |
Virilism | 0.001085767 | 4 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000542884 | 2 | 0 | BeFree |
Premature Menopause | 0.000542884 | 2 | 0 | BeFree |
Ovarian Failure, Premature | 0.000542884 | 2 | 0 | BeFree |
Hyperandrogenism | 0.000542884 | 2 | 0 | BeFree |
Mullerian aplasia | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
granulosa cell tumor | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Chronic | 0.000271442 | 1 | 2 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 2 | BeFree |
Disorders of Sex Development | 0.000271442 | 1 | 0 | BeFree |
Ovarian Hyperstimulation Syndrome | 0.000271442 | 1 | 0 | BeFree |
Renal fibrosis | 0.000271442 | 1 | 0 | BeFree |
Fibroadenoma | 0.000271442 | 1 | 0 | BeFree |
Primary physiologic amenorrhea | 0.000271442 | 1 | 0 | BeFree |
Hematopoietic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Anxiety state | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Anxiety neurosis (finding) | 0.000271442 | 1 | 0 | BeFree |
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