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Buffer
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
Liquid
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Lead Time
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Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo.
Gene References into Functions
Minor allele of SNP rs2200733 is associated with the risk of preeclampsia. SNP rs220073 may represent a common risk factor that predispose women to develop both preeclampsia during pregnancy and cardiovascular disease later on.PMID:30177054
This study for the first time demonstrates that the PITX2 mutation could lead to non-syndromic orodental anomalies in humans. We propose that the specific location in the C-terminal domain of PITX2 is exclusively necessary for tooth development.PMID:29121437
Rs17042171, near PITX2 on chromosome 4q25, is associated with atrial fibrillation susceptibility in the Chinese Han population from the central plains, suggesting that this SNP can provide a new strategy for clinical diagnosis in atrial fibrillation patients.PMID:30110000
NMR methodology was employed for determining the dynamics of lysine side-chain amino groups via (15)N relaxation measurements in the Lys50-class homeodomains from the Drosophila protein Bicoid and the human protein Pitx2PMID:29664630
Results demonstrate that BBP decreases endometrial mesenchymal stem/stromal cell (EN-MSC) myogenic differentiation through up-regulation of miR-137 and decreased transcription of PITX2. Also, BBP affects PITX2 expression through miR-137 targeting the 3' untranslated region of PITX2 mRNA.PMID:28298639
For non-metastatic triple-negative breast cancer patients, selective determination of the PITX2 DNA-methylation status may serve as a cancer biomarker for predicting response to anthracycline-based adjuvant chemotherapy.PMID:29328369
MiR-21 was down-regulated while PITX2 was up-regulated in pituitary adenoma tissues; MiR-21 can inhibit pituitary adenoma cell HP75 proliferation and facilitate apoptosis via inhibiting PITX2 expressionPMID:28742208
PITX2 and PANCR methylation status were shown to be independent predictors for overall survival in HNSCC patients. Tissue-based methylation testing could therefore potentially be employed to identify patients with a high risk for death who might benefit from a more radical or alternative treatment.PMID:27716615
Data suggest that mutations affecting conserved non-coding elements of PITX2 may constitute an important class of mutations in patients with ASD for whom the molecular cause of their disease have not yet been identified.PMID:28911203
we propose that the Smad4-Pitx2-PPP2R2A axis, a new signaling pathway, suppresses the pancreatic carcinogenesisPMID:26848620
Pitx2 is essential to maintain iHepSCs stem cell characteristicsPMID:27697592
Glaucoma prevalence and phenotype are characterized in a cohort of glaucoma patients and their family members with PITX2 variants.PMID:28513611
Using an independent analytical platform, PITX2 methylation was validated as a prognostic biomarker in HNSCC patients, identifying patients that potentially benefit from intensified surveillance and/or administration of adjuvant/neodjuvant treatment, i.e. immunotherapy.PMID:28617833
Pitx2 promoter region is methylated in atrial fibrillation patients.PMID:28427903
Findings suggest ESR1 and PITX2 promoter methylation may be correlated with a worse survival of patients with breast cancer. The clinical utility of aberrantly methylated ESR1 and PITX2 could be a promising factor for the prognosis of breast cancer.PMID:28700487
PITX2 methylation was significantly increased in tumor-positive biopsies and strongly correlated with International Society of Urological Pathology (ISUP) grade groups.PMID:27939865
the atrial fibrillation (AF)-associated SNP rs2595104 altered PITX2c expression via interaction with TFAP2a; such a pathway could ultimately contribute to AF susceptibility at the PITX2 locus associated with AFPMID:27866707
Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa.PMID:27708722
The PITX2 gene expression level in prostate cancer tissues was lower than that in benign tissues. A higher degree of PITX2 DNA methylation was associated with higher tumor stage and lower survival rates. PITX2 DNA methylation presents a good predictive value for prostate cancer survival.PMID:27173224
This is the first study reporting on bi-allelic changes of PITX2 potentially contributing to a more severe Axenfeld-Rieger syndrome (ARS) phenotype.PMID:27009473
The role of PITX2 in glaucoma may be mediated partly by regulating the expression of CXCL6 and BBS5 and thus affecting immune functions and intraocular pressure.PMID:27520585
Chronic Atrial fibrillation increases Pitx2c expression in isolated human atrial myocytesPMID:26714926
ARS is an autosomal dominant disorder with high penetration. It is primarily caused by a mutation of the pituitary homeobox 2 (PITX2) or forkhead box C1 (FOXC1) gene. Mutations in PITX2 on chromosome 4q25, or in FOXC1 at 6p25, have been identified in approximately 40% to 70% of patients with ARSPMID:26240509
Expression of PITX2 in BM of early-stage breast cancer patients is associated with risk for early disease recurrence.PMID:26400846
A novel loss-of-function PITX2 mutation (Q102L) co-segregated with tetralogy of Fallot with complete penetrance.PMID:26657035
Our study uncovers the PITX2-induced expression of TGFB1/2/3 as well as INHBA genes (p < 0.01) followed by SMAD2/3-dependent TGF-b signalling pathway in ovarian cancer cellsPMID:26298390
Both ZFHX3 and PITX2c regulate expression of NPPA, TBX5 and NKX2.5.PMID:26267381
PANCR knockdown decreased PITX2c expression in differentiated cardiomyocytes, altering the transcriptome in a manner similar to PITX2c knockdown.PMID:26783232
PITX2 loss-of-function mutation has a role in increased susceptibility to Congenital Endocardial Cushion Defect and Axenfeld-Rieger SyndromePMID:25893250
The results suggest an association between PITX2-related SNPs and dementia.PMID:25494715
The Axial level-specific regulation of neuronal development of brain requirements for Pitx2 during neuronal migration and differentiation.PMID:25124216
A mutation in the 5' untranslated region of the PITX2 gene significantly downregulates PITX2 expression in atrial myocytes in patients with extreme atrial fibrillation.PMID:25391453
Single nucleotide polymorphism (rs2200733) located in proximity of the gene PITX2 (paired-like homeodomain transcription factor 2) was highly associated with atrial fibrillation.PMID:25443231
study strengthens prior findings that PITX2 methylation is useful as a biomarker of poor outcome of PCa and in addition we also suggest that it may be particularly useful in men with low Gleason score.PMID:25402584
High PITX2 expression is associated with invasive ductal carcinoma of the breast.PMID:25339043
The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea.PMID:25044936
Pitx2-mediated repression of Depdc1b expression contributes to the regulation of multiple molecular pathways, such as Rho GTPase signaling.PMID:25704760
Genome-wide association analysis linked the FOXC1-interacting transcription factor PITX2 to cerebral small-vessel disease.PMID:25250569
This is the first study to link PITX2c mutations to familial atrial fibrillation.PMID:23611745
The combination of Pitx2, a regulator of dental stem cells and miR-200a converts mesenchymal cells to a fully differentiated dental epithelial cell type.PMID:25122764
The findings of the study associate PITX2c loss-of-function mutations with atrial fibrillation.PMID:24473555
study demonstrates the association between PITX2c loss-of-function mutations and the transposition of the great arteries and ventricular septal defect in humans, providing further insight into the molecular mechanisms responsible for CHD.PMID:24604414
describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3, HOXD3, and a new synonymous variant, and PITX2 genesPMID:24127533
PITX2c expression in human adult left atrial appendages is not associated with the chromosome 4q25 AF risk SNPs; thus, the mechanism by which these SNPs are associated with AF remains enigmatic.PMID:24465984
overexpression of PITX2, a paired-like homeodomain transcription factor and a downstream effector of Wnt/beta-catenin signaling, resulted in upregulation of cyclin A1 in HEK293 cells and TPC-1 thyroid cancer cells.PMID:24002705
We detected a novel frameshift mutation p.M66Ifs*133 in PITX2 in a Chinese family with ARS.PMID:24390743
Association of a novel PITX2c loss-of-function mutation with familial atrial fibrillation.PMID:24333117
Pitx2 positively regulates miR-17-92 and miR-106b-25.PMID:24927531
PITX2 gene was heterozygous for a 2-bp deletion and an insertion of T, a frameshift mutation predicted, to result in premature termination at the 54th amino acid of the PITX2 protein.PMID:24003428
PITX2 forms complex with histone H3 lysine 4 (H3K4) methyltransferase. PITX2 complex methylates H3K4.PMID:24486544