Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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Wnt family member 4(WNT4) Wnt family member 4(WNT4) Related Genes Homo sapiens
CHROMOSOME 1,
CYTOBAND 1p36.23-p35.1,
ENSEMBL_GENE_ID ENSG00000162552,
GENERIF_SUMMARY WNT-4 protein is expressed in the developing nephron during morphogenetic period of the kidney., Down-regulation of Wnt-4 and up-regulation of Wnt-5a are possible markers of the malignant phenotype of human squamous cell carcinoma., overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy, matrilysin may have a role in renal tubular injury and progression of tubulointerstitial fibrosis, and Wnt4 may regulate matrilysin expression in the kidney, Their different spatial expression patterns suggest that Wnt4 and Wnt5a proteins are not functionally linked to type II collagen and type X collagen synthesis in in vitro chondrogenic models of mesenchyme stem cells, sequencing of all five exons of WNT-4 demonstrated no mutant alleles in any of 8 46,XX true hermaphrodites. The possibility of the existence of causative mutations in the untranslated regions of WNT-4, or within introns cannot be ruled out., It is thus likely that both RE1 and RE2 are necessary in rendering p63/p73-specific activation of the WNT4 promoter., Bone morphogenetic protein-2 modulates Wnt and frizzled expression and enhances the canonical pathway of Wnt signaling in normal keratinocytes, These data show that DKK3 and WNT4 have multiple actions on steroidogenesis in adrenocortical cells, including effects on overall steroidogenesis (aldosterone and cortisol biosynthesis) and distinct effects on steroidogenic enzyme mRNA levels., The activation of p38 was dependent on Axin and was required for the enhancement of mesenchymal stem cells differentiation by Wnt-4., Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Kuster-Hauser syndrome without androgen excess excluded this gene as a major cause of this syndrome, regardless of the subtype., Together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans., WNT4 is involved in the regulation of mullerian duct development and ovarian androgen biosynthesis. WNT4 may also contribute to human follicle development and/or maintenance., Wnt4 gene, a member of the Wnt-beta-catenin pathway, was identified as a target gene of MM-1., The abundant WNT-4 mRNA expression in Conn's adenomas and its hormonal regulation in adrenocortical cells suggest a role for WNT-4 in human adrenocortical function., These results suggested that activation of Wnt4/Fzd6 signaling through a "beta-catenin-independent" pathway played a role in proliferation and survival of the pituitary adenoma cells., Mutations in the coding sequence of WNT4, WNT5A, WNT7A, and WNT9B are not responsible for the Mayer-Rokitansky-Kuster-Hauser syndrome., RNA samples from 21 neuroblastoma showed a highly significant FZD1 and/or MDR1 overexpression after treatment, underlining a role for FZD1-mediated Wnt/beta-catenin pathway in clinical chemoresistance., Wnt 4a gene encodes a growth factor that participates in the formation of the kidney, adrenal, mammary gland, pituitary, and female reproductive tract. Wnt4 is required for the initial steps of the formation of Mullerian ducts., Results demonstrated significant up-regulation of WNT-3, WNT-4, WNT-5B, WNT-7B, WNT-9A, WNT-10A, and WNT-16B in patients with CLL compared to normal subjects., The current results support a view that WNT4 may have a role in oocyte selection and follicle formation and maturation in human ovaries., at least 1 cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a loss of function mutation of the Wnt4 (wingless-type MMTV integration site family member 4) gene., Findings provide the first convincing line of evidence that EAF and Wnt4 form an auto-regulatory negative feedback loop in vivo., The age-related down-regulation of Wnt4 (and subsequently FoxN1), and the prominent increase in LAP2alpha expression, was investigated in thymic epithelial cells., Wnt4 is specifically involved in joint development., These observations highlight the distinct roles of WNT11 and WNT4 during the early stages of retinoic acid-induced neuronal differentiation., Report a new WNT4 gene mutation in atypical Mayer-Rokitansky-Kuster-Hauser syndrome., Possible role of WNT4 in Han Chinese women with premature ovarian failure., Wnt/beta-catenin pathway forms a negative feedback loop during TGF-beta1 induced human normal skin fibroblast-to-myofibroblast transition, Mutations in WNT4 are not responsible for Mullerian duct abnormalities in Chinese women., Mutations in the WNT4 gene is not associated with premature ovarian failure., Recent developments have demonstrated that ovarian development is an active process (rather than a default process); ovarian development/function requires expression of WNT4, RSPO1, and FOXL2. [REVIEW], We confirm WNT4, CDKN2BAS and FN1 as the first identified common loci for endometriosis., Studies uncovered a linear pathway involving BMP2, WNT4/beta-catenin, and Forkhead box protein O1 that operates in human endometrium to critically control decidualization., Analysis of bronchial biopsy samples shows a very strong correlation between Wnt4 and interleukin (IL)8 gene expression, suggesting a role for Wnt4 in chronic lung inflammation., heterozygous WNT4 variants are likely to play a causative role in renal hypodysplasia., State anxiety assessed two months before the examination was positively and negatively correlated with miR-16 and its target WNT4 mRNA levels, respectively., These data indicate that Wnt4 signaling is deregulated in most pituitary adenomas and its excessive activation may inhibit pituitary tumor invasion., The WNT4 ligand plays a role in regulating the cell growth of leukemia-derived cells by arresting cells in the G1 cell cycle phase., We report an adolescent girl with the cardinal features of MURCS association, obesity, and clinical findings of hyperandrogenism who did not show any exonic mutation of the WNT4 gene, Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were significantly associated with endometriosis in this Korean population., The 5'-flanking region of the Wnt4 gene is responsive to Pax8. Pax8 modulates the expression of Wnt4 in thyroid cells., Wnt4 might be a key gene during parathyroid hormone-induced epithelial mesenchymal transformation of proximal kidney tubule cells., The results demonstrated that WNT4 rs2235529 is associated with endometriosis in Chinese Han women, which may result in aberrant expression of WNT4, leading to the pathogenesis of endometriosis., the expression of WNT4, a Wnt ligand, and three targets of Wnt-ss-catenin transcription activation, namely, MMP7, cyclinD1 (CD1) and c-MYC in 141 penile tissue cores from 101 unique samples, were investigated., Polymorphisms on WNT4 gene might be involved in the pathogenesis of endometriosis in the infertile women.,
OMIM_DISEASE Mullerian aplasia and hyperandrogenism, SERKAL syndrome,
SP_COMMENT disease:Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]; also called Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome or MRKH anomaly). RKH syndrome is characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls., disease:Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]; also known as SERKAL syndrome., function:Ligand for members of the frizzled family of seven transmembrane receptors., function:Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue., similarity:Belongs to the Wnt family., subunit:Interacts with PORCN.,