Identity
HGNC
LOCATION
10q24.31
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
FSGS7,PAPRS
Abstract
PAX2 is the second member of the nine-member PAX gene family. PAX2s role begins as a developmental gene in late primitive streak stage embryos (Dressler et al., 1990). If PAX2 becomes expressed out of its normal context, its powerful functions as a transcription factor and epigenetic regulator (reviewed in Robson et al., 2006) can be recruited to the advantage of cancer cells (Robson et al., 2006; Li and Eccles, 2012). Normally PAX2 has key roles during embryogenesis, particularly in epithelial cell differentiation from mesenchyme (Rothenpieler and Dressler, 1993), such as in kidney development, and in mammary gland ductal morphogenesis (Silberstein et al., 2002). There is a requirement for the attenuation of PAX2 expression during development, particularly for the terminal differentiation of nephrogenic precursors (Dressler et al., 1993). Following the completion of development, PAX2 is capable of being re-expressed, such as in instances of nephrotoxicity or in other kidney damage (Cohen et al., 2007). In adult tissues, PAX2 is normally expressed in the pancreas (Zaiko et al., 2004), and also in subpopulations of nodal lymphocytes (Gilmore and Dewar, 2011). When expressed out of its normal context, expression of PAX2 is frequently observed in several cancer types (Robson et al., 2006). Expression of PAX2 has been linked with cell survival (Torban et al., 2000; Muratovska et al., 2003), cell migration and invasion (Buttiglieri et al., 2004), and mesenchyme-epithelial transition (MET) and epithelial-mesenchyme transition (EMT) (Doberstein et al., 2011).
DNA/RNA
Description
12 exons, including alternative spliced exons 6 and 10 (Sanyanusin et al., 1996).
Transcription
Several alternatively spliced isoforms of PAX2 have been described involving exon 6, exon 10 (Dressler et al., 1990; Ward et al., 1994), and intron 9 (Busse et al., 2009).
Pseudogene
No
Proteins
Note
PAX2 contains a DNA binding paired domain, a truncated homeodomain, an octapeptide region and a carboxyl-terminal transactivation domain (Sanyanusin et al., 1996). Degradation/destruction of the PAX2 protein in cells is mediated by the prolyl hydroxylase domain protein 3 (PHD3) protein (Yan et al., 2011). PHD3 is also known to hydroxylate hypoxia inducible factors (HIFα) in the presence of oxygen, and leads to HIFα proteosomal degradation. In some colorectal cancer cell lines where PAX2 protein is expressed PAX2 expression was found to be elevated due to decreased PHD3 expression (Yan et al., 2011).
Description
416 amino acids; 44.7 kDa.
Expression
PAX2 is expressed in the developing eye, ear, central nervous system (CNS), spinal cord, pancreas and urogenital tract (Eccles et al., 2002).
Localisation
Nuclear.
Function
PAX2 is a transcription factor that regulates the expression of genes involved in mediating cell proliferation and growth, resistance to apoptosis, and cell migration (Dahl et al., 1997). PAX2 null mutant mice die perinatally with absent cochlea, kidneys, ureters, oviducts, vas deferens and epididymis, and also demonstrate mid- and hindbrain deficiency and defective optic nerves (Torres et al., 1995; Torres et al., 1996). PAX2s role in normal tissues includes promoting osmotic tolerance in the adult kidney (Cai et al., 2005), determining axon number and axon trajectory in the developing optic nerve (Torres et al., 1996; Alur et al., 2008), and determining nephron number in the kidney (Dziarmaga et al., 2003; Dziarmaga et al., 2006; Clark et al., 2004). In cancer cells and in tumour endothelial cells the over-expression of PAX2 has been linked to the acquisition of a pro-invasive phenotype (Fonsato et al., 2008), and PAX2 has been suggested as a molecular target in tumour endothelial cells against which to design anti-angiogenic strategies (Bussolati et al., 2010).
Homology
PAX2 shares homology through the conserved paired box domain with several other members of the nine member PAX gene family (Dahl et al., 1997; Robson et al., 2006).
Mutations
Germinal
PAX2 mutations have been reported as associated with renal coloboma syndrome (see below), oligomeganephronia and isolated renal hypoplasia (Bower et al., 2012; Bower et al., 2011). These mutations are collated on the Leiden Open Variant Database platform (www.lovd.nl/PAX2). A PAX2 mutational hotspot and germline mosaiscism for PAX2 mutations have been reported (Amiel et al., 2000).
Implicated in
Entity name
Endometrial carcinoma
Note
PAX2 is activated by oestrogen and tamoxifen in endometrial carcinomas, but not in the normal endometrium, and this activation is associated with cancer-linked hypomethylation of the PAX2 promoter (Wu et al., 2005; reviewed in Shang, 2006). In the progression from normal to endometrial precancer to cancer, the expression of both PAX2 and PTEN is progressively lost (Monte et al., 2010; Allison et al., 2012). Nevertheless, inhibition of PAX2 or silencing of PAX2 by RNAi inhibits the growth of transplanted human endometrial cancer cells in nude mice (Zhang et al., 2011).
Entity name
Breast cancer
Note
PAX2 is expressed in breast cancer cell lines and tissues (Silberstein et al., 2002). A role for PAX2 in the crosstalk between estrogen receptor (ER) and ERBB2/HER-2 pathways is suggested by the observation that PAX2 is an important mediator of ER-associated repression of ERBB2 following tamoxifen treatment (Hurtado et al., 2008). PAX2 and the ER co-activator AIB-1/SRC-3 were found to compete for binding and regulation of ERBB2 transcription. Competition for binding, and dependence of the effect of tamoxifen on PAX2 is responsible for tamoxifen-responsiveness in breast cancer cells, and might suggest potential mechanisms for tamoxifen-resistance in breast cancer. PAX2 expression is negatively correlated with the recurrence of breast cancer (Liu et al., 2009), and expression of PAX2 is selectively achieved in breast cancer cells of the luminal subtype via ERα (Beauchemin et al., 2011). PAX2 has a role in maintaining a low invasive behavior in luminal breast cancer cells upon exposure to estradiol. However, in contrast to PAX2, GPR30 expression is correlated with ER expression and showed significant association with ERBB2 expression and also association with a tendency for tumour recurrence (Liu et al., 2009). An MCF-7 cell line that was selected for tamoxifen resistance resulted in several outgrowing sublines that acquired PAX2 expression, accompanied by loss of phosphorylated ERBB2, and rapamycin resistance (Leung et al., 2010).
Entity name
Ovarian carcinoma
Note
PAX2 is expressed in carcinomas of the ovary (Schaner et al., 2003; Muratovska et al., 2003; Tong et al., 2007). As compared with high-grade serous ovarian carcinomas, low-grade serous carcinomas are characterized by a greater expression of PAX2 (Tung et al., 2009; Roh et al., 2010; reviewed in Gershenson, 2013). PAX2 expression was reduced in secretory cell outgrowths (SCOUTS), which are associated with serous ovarian cancer (Chen EY et al., 2010), and PAX2 expression has also been associated with SCOUTS and serous borderline tumours occurring in the fallopian tube (Laury et al., 2011). A relationship between discrete PAX2 gene dysregulation in the oviduct and both increasing age and, more significantly, the presence of co-existing serous cancer has been suggested (Quick et al., 2012). PAX2 appears to have both oncogenic and tumour suppressor gene roles in ovarian cancer cells, depending on the cellular context (Song et al., 2013). In chemoresistant epithelial ovarian cancer cell lines PAX2 expression was down regulated (Ju et al., 2009). In ovarian cancer cell lines inhibition of PAX2 led to reduced cell proliferation and apoptosis.
Entity name
Renal cell carcinoma
Note
Renal cell carcinomas (RCC) cells express PAX2 (Gnarra and Dressler, 1995; Daniel et al., 2001; Igarashi et al., 2001) as a result of loss of the von-Hippel Lindau (VHL) tumour suppressor gene and hypoxia (Luu et al., 2009; reviewed in Kuroda et al., 2013). PAX2 promotes cell survival in renal cell carcinoma cells (Hueber et al., 2006). PAX2 expression correlates with proliferation index in the majority of kidney tumour subtypes, and expression levels are significantly higher as compared to primary RCCs in patients presenting with metastatic disease (Pan et al., 2013). PAX2 may therefore provide a useful prognostic marker for determining the severity of kidney cancers (Kuroda et al., 2013). PAX2 has been shown to regulate ADAM10, which is a metalloproteinase expressed in RCC cells. PAX2 has been validated in vivo as a therapeutic target for the treatment of renal cell carcinoma cells (Hueber et al., 2008). Immunogenic HLA-A*0201-binding T-cell epitopes of PAX2 have been identified, which were able to generate a T-cell response to at least 1 of 6 PAX2 peptide pools in patients with renal cell carcinoma, colorectal cancer, or lymphoma (Asemissen et al., 2009).
Entity name
Prostate cancer
Note
PAX2 is expressed in prostate cancer cell lines and in some prostate cancer tissues (Khoubehi et al., 2001; Quick et al., 2010). During embryonic development in mice Pax2 mRNA levels are higher in the early stages of development than in postpubertal prostates (Chen Q et al., 2010). PAX2 may regulate the early, androgen-independent stages of prostate development, and expression is associated with a dorsally localized epithelial cell population retaining proliferative and differentiation potential, which may represent a subset of stem-like cells with characteristics of castrate-resistant prostate cancer cells (Chen Q et al., 2010). Angiotensin II up-regulates the expression of PAX2 in prostate cancer cells via the angiotensin II type I receptor (Bose et al., 2009b). Inhibition of PAX2 expression leads to cell death in prostate cancer cells, independently of p53 (Gibson et al., 2007). In addition, PAX2 expression represses the expression of human beta defensin-1 (hBD1) in prostate cancer cells, which may be a mechanism by which PAX2 helps to facilitate evasion of cancer cells from the immune system (Bose et al., 2009a). Human beta defensin is a component of the immune system linking innate and adaptive immune responses. Furthermore, PAX2 over-expression promotes the development of a metastatic state in prostate cancer cells, presumably through upregulating the expression of cell membrane proteins (Ueda et al., 2013).
Entity name
Nephrogenic adenoma
Note
Nephrogenic adenoma is a benign lesion of the urinary tract, particularly of the urinary bladder. Immunostaining for PAX2 and PAX8 is useful in the detection of nephrogenic adenomas and particularly unveils those nephrogenic adenomas that have a flat pattern (Piña-Oviedo et al., 2013). PAX2 is expressed in bladder cancer cells, and inhibition of PAX2 expression in bladder cancer cell lines induces cell death, indicating a role for PAX2 in tumour cell survival (Muratovska et al., 2003).
Entity name
Wilms tumor
Note
PAX2, as well as its closely related family member, PAX8, is expressed in Wilms tumor (Dressler and Douglass, 1992; Eccles et al., 1992), but neither PAX2 nor PAX8 is mutated in Wilms tumor (Tamimi et al., 2006). The gene encoding the calcineurin a-binding protein (CnABP) was identified as a novel target gene, which is up regulated by PAX2 (Nguyen et al., 2009), and is over-expressed in >70% of Wilms tumor samples analysed. CnABP was shown to promote cell proliferation and migration in cell culture experiments (Nguyen et al., 2009).
Entity name
Melanoma
Note
PAX2 protein was expressed weakly in keratinocytes and melanocytes (Lee et al., 2011). Increased levels of PAX2 protein, as compared to melanocytes, were observed in some melanoma cell lines, and in some melanoma tissues, which strongly correlated with nuclear atypia and prominent nucleoli (i.e a more atypical cellular phenotype). PAX2 was found to regulate ADAM10 expression, which is a metalloproteinase with an important role in melanoma, and the silencing of PAX2 expression in melanoma cells abrogated chemoresistance, and anchorage-independent growth as well as decreasing migratory and invasive capacity of melanoma cells (Lee et al., 2011).
Entity name
Medulloblastoma
Note
PAX2 is expressed in the majority of medulloblastomas, and its expression correlates with a less differentiated histology. Inhibition of PAX2 expression leads to apoptosis of medulloblastoma cells (Burger et al., 2012).
Entity name
Colorectal cancer
Note
In colorectal cancers PAX2 protein is elevated due to decreased PHD3 expression (Yan et al., 2011). Silencing of PAX2 in colorectal cancer cells inhibits the activity of AP-1, a transcription factor that induces cyclin D1 expression (Zhang et al., 2012). PAX2 protein expression in colorectal cancer cells prevents JUNB from binding to c-jun and enhances phosphorylation of c-Jun (Zhang et al., 2012).
Entity name
Kaposis sarcoma
Note
PAX2 is expressed in Kaposis sarcomas (Buttiglieri et al., 2004), where it induces apoptosis resistance and a proinvasive phenotype.
Entity name
Renal coloboma syndrome (RCS)
Note
RCS is associated with heterozygous PAX2 mutations (Sanyanusin et al., 1995). RCS is characterised by end-stage renal failure and blindness (Eccles and Schimmenti, 1999; Bower et al., 2011). Increased apoptosis arises as a result of impaired PAX2 function, and is believed to be responsible for disrupted nephron formation (Porteous et al., 2000). Optic nerve defects are also observed in patients with RCS, and these lead to visual impairment (Eccles and Schimmenti, 1999). There are no reported instances of cancer in patients with renal-coloboma syndrome.
Entity name
Polycystic kidney disease
Note
An aberrant persistent expression of PAX2 is implicated in autosomal dominant polycystic kidney disease, and cystogenesis is inhibited when Pax2 gene dosage is reduced in mice with ADPKD (Stayner et al., 2006; Eccles and Stayner, 2014). Similarly, in Cpk mice with recessive polycystic kidney disease, reduced dosage of the Pax2 gene was able to reduce cystogenesis, and also enhances apoptosis in fetal kidney cells (Ostrom et al., 2000).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 22317873 | 2012 | PAX2 loss by immunohistochemistry occurs early and often in endometrial hyperplasia. | Allison KH et al |
| 18083586 | 2008 | Optic nerve axon number in mouse is regulated by PAX2. | Alur RP et al |
| 11093271 | 2000 | PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. | Amiel J et al |
| 19342968 | 2009 | Identification of an immunogenic HLA-A*0201-binding T-cell epitope of the transcription factor PAX2. | Asemissen AM et al |
| 22168360 | 2011 | PAX2 is activated by estradiol in breast cancer cells of the luminal subgroup selectively, to confer a low invasive phenotype. | Beauchemin D et al |
| 19517575 | 2009 | Angiotensin II up-regulates PAX2 oncogene expression and activity in prostate cancer via the angiotensin II type I receptor. | Bose SK et al |
| 21326282 | 2011 | Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. | Bower M et al |
| 22213154 | 2012 | Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. | Bower M et al |
| 22552444 | 2012 | PAX2 is an antiapoptotic molecule with deregulated expression in medulloblastoma. | Burger MC et al |
| 19467152 | 2009 | An intron 9 containing splice variant of PAX2. | Busse A et al |
| 19485921 | 2010 | Characterization of molecular and functional alterations of tumor endothelial cells to design anti-angiogenic strategies. | Bussolati B et al |
| 14627715 | 2004 | Role of Pax2 in apoptosis resistance and proinvasive phenotype of Kaposi's sarcoma cells. | Buttiglieri S et al |
| 15623552 | 2005 | Pax2 expression occurs in renal medullary epithelial cells in vivo and in cell culture, is osmoregulated, and promotes osmotic tolerance. | Cai Q et al |
| 20597068 | 2010 | Secretory cell outgrowth, PAX2 and serous carcinogenesis in the Fallopian tube. | Chen EY et al |
| 20017165 | 2010 | The developmental expression profile of PAX2 in the murine prostate. | Chen Q et al |
| 14747376 | 2004 | Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk. | Clark P et al |
| 17164400 | 2007 | PAX2 is reactivated in urinary tract obstruction and partially protects collecting duct cells from programmed cell death. | Cohen T et al |
| 9297966 | 1997 | Pax genes and organogenesis. | Dahl E et al |
| 11274636 | 2001 | Pax-2 expression in adult renal tumors. | Daniel L et al |
| 21880579 | 2011 | The transcription factor PAX2 regulates ADAM10 expression in renal cell carcinoma. | Doberstein K et al |
| 8383297 | 1993 | Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities. | Dressler GR et al |
| 16672320 | 2006 | Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice. | Dziarmaga A et al |
| 12141441 | 2002 | PAX genes in development and disease: the role of PAX2 in urogenital tract development. | Eccles MR et al |
| 24765529 | 2014 | Polycystic kidney disease - where gene dosage counts. | Eccles MR et al |
| 1378753 | 1992 | Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. | Eccles MR et al |
| 18056486 | 2008 | PAX2 expression by HHV-8-infected endothelial cells induced a proangiogenic and proinvasive phenotype. | Fonsato V et al |
| 23714500 | 2013 | The life and times of low-grade serous carcinoma of the ovary. | Gershenson DM et al |
| 16996682 | 2007 | Inhibition of PAX2 expression results in alternate cell death pathways in prostate cancer cells differing in p53 status. | Gibson W et al |
| 21466350 | 2011 | Caution in metastatic renal cell carcinoma within lymph nodes: PAX-2 expression is also seen in nodal lymphocytes. | Gilmore L et al |
| 7664285 | 1995 | Expression of Pax-2 in human renal cell carcinoma and growth inhibition by antisense oligonucleotides. | Gnarra JR et al |
| 18439754 | 2008 | In vivo validation of PAX2 as a target for renal cancer therapy. | Hueber PA et al |
| 16609680 | 2006 | PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells. | Hueber PA et al |
| 19005469 | 2008 | Regulation of ERBB2 by oestrogen receptor-PAX2 determines response to tamoxifen. | Hurtado A et al |
| 11240827 | 2001 | Aberrant expression of Pax-2 mRNA in renal cell carcinoma tissue and parenchyma of the affected kidney. | Igarashi T et al |
| 20066894 | 2009 | Identification of genes with differential expression in chemoresistant epithelial ovarian cancer using high-density oligonucleotide microarrays. | Ju W et al |
| 11371938 | 2001 | Expression of the developmental and oncogenic PAX2 gene in human prostate cancer. | Khoubehi B et al |
| 23957913 | 2013 | Recent advances of immunohistochemistry for diagnosis of renal tumors. | Kuroda N et al |
| 22089527 | 2011 | Fallopian tube correlates of ovarian serous borderline tumors. | Laury AR et al |
| 21876729 | 2011 | PAX2 regulates ADAM10 expression and mediates anchorage-independent cell growth of melanoma cells. | Lee SB et al |
| 20234184 | 2010 | MCF-7 breast cancer cells selected for tamoxifen resistance acquire new phenotypes differing in DNA content, phospho-HER2 and PAX2 expression, and rapamycin sensitivity. | Leung E et al |
| 22303411 | 2012 | PAX Genes in Cancer; Friends or Foes? | Li CG et al |
| 19951611 | 2009 | Expression of CD133, PAX2, ESA, and GPR30 in invasive ductal breast carcinomas. | Liu Q et al |
| 19401348 | 2009 | Loss of VHL and hypoxia provokes PAX2 up-regulation in clear cell renal cell carcinoma. | Luu VD et al |
| 20631067 | 2010 | Joint loss of PAX2 and PTEN expression in endometrial precancers and cancer. | Monte NM et al |
| 12970747 | 2003 | Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. | Muratovska A et al |
| 19531566 | 2009 | Calcineurin a-binding protein, a novel modulator of the calcineurin-nuclear factor of activated T-cell signaling pathway, is overexpressed in wilms' tumors and promotes cell migration. | Nguyen AH et al |
| 10694420 | 2000 | Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. | Ostrom L et al |
| 23955461 | 2013 | Significant variation of immunohistochemical marker expression in paired primary and metastatic clear cell renal cell carcinomas. | Pan Z et al |
| 23328975 | 2013 | Flat pattern of nephrogenic adenoma: previously unrecognized pattern unveiled using PAX2 and PAX8 immunohistochemistry. | Piña-Oviedo S et al |
| 10587573 | 2000 | Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. | Porteous S et al |
| 20413145 | 2010 | The distribution of PAX-2 immunoreactivity in the prostate gland, seminal vesicle, and ejaculatory duct: comparison with prostatic adenocarcinoma and discussion of prostatic zonal embryogenesis. | Quick CM et al |
| 22080059 | 2012 | PAX2-null secretory cell outgrowths in the oviduct and their relationship to pelvic serous cancer. | Quick CM et al |
| 16397527 | 2006 | A PANorama of PAX genes in cancer and development. | Robson EJ et al |
| 20562848 | 2010 | High-grade fimbrial-ovarian carcinomas are unified by altered p53, PTEN and PAX2 expression. | Roh MH et al |
| 8187639 | 1993 | Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. | Rothenpieler UW et al |
| 8661132 | 1996 | Genomic structure of the human PAX2 gene. | Sanyanusin P et al |
| 12960427 | 2003 | Gene expression patterns in ovarian carcinomas. | Schaner ME et al |
| 16633364 | 2006 | Molecular mechanisms of oestrogen and SERMs in endometrial carcinogenesis. | Shang Y et al |
| 11850818 | 2002 | Expression of the PAX2 oncogene in human breast cancer and its role in progesterone-dependent mammary growth. | Silberstein GB et al |
| 23502471 | 2013 | PAX2 Expression in Ovarian Cancer. | Song H et al |
| 17082250 | 2006 | Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease. | Stayner C et al |
| 16814811 | 2006 | Paired box genes, PAX-2 and PAX-8, are not frequently mutated in Wilms tumor. | Tamimi Y et al |
| 17529925 | 2007 | Expression of PAX2 in papillary serous carcinoma of the ovary: immunohistochemical evidence of fallopian tube or secondary Müllerian system origin? | Tong GX et al |
| 10980123 | 2000 | PAX2 suppresses apoptosis in renal collecting duct cells. | Torban E et al |
| 8951055 | 1996 | Pax2 contributes to inner ear patterning and optic nerve trajectory. | Torres M et al |
| 19525924 | 2009 | PAX2 expression in low malignant potential ovarian tumors and low-grade ovarian serous carcinomas. | Tung CS et al |
| 23765687 | 2013 | Hyper-expression of PAX2 in human metastatic prostate tumors and its role as a cancer promoter in an in vitro invasion model. | Ueda T et al |
| 7819127 | 1994 | Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene. | Ward TA et al |
| 16355216 | 2005 | Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis. | Wu H et al |
| 21575608 | 2011 | Prolyl hydroxylase domain protein 3 targets Pax2 for destruction. | Yan B et al |
| 15012626 | 2004 | Pax2 mutant mice display increased number and size of islets of Langerhans but no change in insulin and glucagon content. | Zaiko M et al |
| 23135283 | 2012 | PAX2 protein induces expression of cyclin D1 through activating AP-1 protein and promotes proliferation of colon cancer cells. | Zhang HS et al |
| 21627862 | 2011 | RNA interference of pax2 inhibits growth of transplanted human endometrial cancer cells in nude mice. | Zhang LP et al |
Other Information
Locus ID:
NCBI: 5076
MIM: 167409
HGNC: 8616
Ensembl: ENSG00000075891
Variants:
dbSNP: 5076
ClinVar: 5076
TCGA: ENSG00000075891
COSMIC: PAX2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38185904 | 2024 | PAX2 is regulated by estrogen/progesterone through promoter methylation in endometrioid adenocarcinoma and has an important role in carcinogenesis via the AKT/mTOR signaling pathway. | 0 |
| 38185904 | 2024 | PAX2 is regulated by estrogen/progesterone through promoter methylation in endometrioid adenocarcinoma and has an important role in carcinogenesis via the AKT/mTOR signaling pathway. | 0 |
| 35790137 | 2023 | PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability. | 0 |
| 36835576 | 2023 | PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database. | 2 |
| 37628926 | 2023 | PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review. | 0 |
| 35790137 | 2023 | PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability. | 0 |
| 36835576 | 2023 | PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database. | 2 |
| 37628926 | 2023 | PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review. | 0 |
| 33509057 | 2022 | PAX2 promoter methylation and AIB1 overexpression promote tamoxifen resistance in breast carcinoma patients. | 4 |
| 34545858 | 2022 | Reliable Identification of Endometrial Precancers Through Combined Pax2, β-Catenin, and Pten Immunohistochemistry. | 9 |
| 34906559 | 2022 | Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings. | 0 |
| 35387670 | 2022 | PAX2, PAX8, and PR are correlated with ovarian seromucinous borderline tumor with endometriosis. | 2 |
| 33509057 | 2022 | PAX2 promoter methylation and AIB1 overexpression promote tamoxifen resistance in breast carcinoma patients. | 4 |
| 34545858 | 2022 | Reliable Identification of Endometrial Precancers Through Combined Pax2, β-Catenin, and Pten Immunohistochemistry. | 9 |
| 34906559 | 2022 | Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings. | 0 |
Citation
Michael Eccles
PAX2 (Paired box gene 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/41642/pax2
Historical Card
2005-07-01 PAX2 (Paired box gene 2) by Ewan Robson,Jess Whall,Michael Eccles Affiliation
Developmental Genetics Group, Department of Pathology, University of Otago, PO Box 913,Dunedin 9015, New Zealand
