Recombinant Human Pituitary homeobox 2 (PITX2)

1. 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
2. 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
3. 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
4. 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 Pitx2 PMID: 29664630
5. 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
6. 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
7. 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 expression PMID: 28742208
8. 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
9. 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
10. we propose that the Smad4-Pitx2-PPP2R2A axis, a new signaling pathway, suppresses the pancreatic carcinogenesis PMID: 26848620
11. Pitx2 is essential to maintain iHepSCs stem cell characteristics PMID: 27697592
12. Glaucoma prevalence and phenotype are characterized in a cohort of glaucoma patients and their family members with PITX2 variants. PMID: 28513611
13. 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
14. Pitx2 promoter region is methylated in atrial fibrillation patients. PMID: 28427903
15. 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
16. PITX2 methylation was significantly increased in tumor-positive biopsies and strongly correlated with International Society of Urological Pathology (ISUP) grade groups. PMID: 27939865
17. 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 AF PMID: 27866707
18. Study showed that PITX3 and PITX2 were hypermethylated in prostate carcinomas (PCa) and significantly associated with established clinicopathologic parameters characteristic of PCa. PMID: 27708722
19. 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
20. 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
21. 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
22. Chronic Atrial fibrillation increases Pitx2c expression in isolated human atrial myocytes PMID: 26714926
23. 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 ARS PMID: 26240509
24. Expression of PITX2 in BM of early-stage breast cancer patients is associated with risk for early disease recurrence. PMID: 26400846
25. A novel loss-of-function PITX2 mutation (Q102L) co-segregated with tetralogy of Fallot with complete penetrance. PMID: 26657035
26. 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 cells PMID: 26298390
27. Both ZFHX3 and PITX2c regulate expression of NPPA, TBX5 and NKX2.5. PMID: 26267381
28. PANCR knockdown decreased PITX2c expression in differentiated cardiomyocytes, altering the transcriptome in a manner similar to PITX2c knockdown. PMID: 26783232
29. PITX2 loss-of-function mutation has a role in increased susceptibility to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome PMID: 25893250
30. The results suggest an association between PITX2-related SNPs and dementia. PMID: 25494715
31. The Axial level-specific regulation of neuronal development of brain requirements for Pitx2 during neuronal migration and differentiation. PMID: 25124216
32. 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
33. 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
34. 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
35. High PITX2 expression is associated with invasive ductal carcinoma of the breast. PMID: 25339043
36. The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea. PMID: 25044936
37. Pitx2-mediated repression of Depdc1b expression contributes to the regulation of multiple molecular pathways, such as Rho GTPase signaling. PMID: 25704760
38. Genome-wide association analysis linked the FOXC1-interacting transcription factor PITX2 to cerebral small-vessel disease. PMID: 25250569
39. This is the first study to link PITX2c mutations to familial atrial fibrillation. PMID: 23611745
40. 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
41. The findings of the study associate PITX2c loss-of-function mutations with atrial fibrillation. PMID: 24473555
42. 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
43. 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 genes PMID: 24127533
44. 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
45. 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
46. We detected a novel frameshift mutation p.M66Ifs*133 in PITX2 in a Chinese family with ARS. PMID: 24390743
47. Association of a novel PITX2c loss-of-function mutation with familial atrial fibrillation. PMID: 24333117
48. Pitx2 positively regulates miR-17-92 and miR-106b-25. PMID: 24927531
49. 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
50. PITX2 forms complex with histone H3 lysine 4 (H3K4) methyltransferase. PITX2 complex methylates H3K4. PMID: 24486544

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HGNC: 9005

OMIM: 137600

KEGG: hsa:5308

STRING: 9606.ENSP00000304169

UniGene: Hs.643588