PITX3 Gene

HGNC Family Homeoboxes
Name paired-like homeodomain 3
Description This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPITX3 encodes a homeodomain transcription factor that is essential for the differentiation, maturation, and survival of midbrain dopaminergic neurons. It cooperates with other key regulators—such as Nurr1—to activate genes including tyrosine hydroxylase, thereby establishing and maintaining the dopaminergic phenotype. Multiple studies have documented genetic associations between PITX3 promoter and coding region variants and the risk of Parkinson’s disease, particularly in early‐onset and familial cases, as well as links to alterations in dopaminergic neurotransmission and related cognitive deficits."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its critical role in the central nervous system, PITX3 is pivotal for ocular development. Mutations in PITX3 have been implicated in a spectrum of congenital eye disorders including autosomal dominant posterior polar cataract, anterior segment dysgenesis, and in more severe cases, microphthalmia with associated neurological impairments. A recurrent 17‐base‐pair duplication, along with other novel mutations, has been identified in multiple families, and functional studies reveal that these mutations compromise the transactivation capacity of PITX3, leading to aberrant lens and anterior segment development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEmerging evidence further indicates that aberrant epigenetic regulation of the PITX3 gene may have diagnostic and prognostic implications beyond neurodevelopment and lens formation. For instance, alterations in PITX3 DNA methylation patterns have been explored as potential biomarkers in prostate cancer. Moreover, although mutations in PITX3 robustly associate with Parkinson’s disease and congenital cataract phenotypes, comprehensive mutation screens in other neurodegenerative disorders such as multisystem atrophy, progressive supranuclear palsy, and corticobasal degeneration have not uncovered pathogenic variants, thereby delineating a tissue‐ and context‐specific role for PITX3."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "29", "end_ref": "31"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Cecile Martinat, Jean-Jacques Bacci, Thomas Leete, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0511153103"}], "href": "https://doi.org/10.1073/pnas.0511153103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16477036"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16477036"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Julia Fuchs, Jakob C Mueller, Peter Lichtner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor PITX3 is associated with sporadic Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2007.08.014"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2007.08.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17905480"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17905480"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Dietrich Haubenberger, Eva Reinthaler, Jakob C Mueller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2009.02.015"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2009.02.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19345444"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19345444"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Olle Bergman, Anna Håkansson, Lars Westberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PITX3 polymorphism is associated with early onset Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2008.03.008"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2008.03.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18420308"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18420308"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lorena de Mena, Eliecer Coto, Lucía F Cardo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.31086"}], "href": "https://doi.org/10.1002/ajmg.b.31086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20468068"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20468068"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "H Liu, L Wei, Q Tao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1468-1331.2011.03644.x"}], "href": "https://doi.org/10.1111/j.1468-1331.2011.03644.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22309633"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22309633"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Weidong Le, Deanne Nguyen, Xiyao Wendy Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcription factor PITX3 gene in Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2009.03.015"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2009.03.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19394114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19394114"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "S M Smits, M P Smidt "}, {"type": "b", "children": [{"type": "t", "text": "The role of Pitx3 in survival of midbrain dopaminergic neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm Suppl (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/978-3-211-45295-0_10"}], "href": "https://doi.org/10.1007/978-3-211-45295-0_10"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17017509"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17017509"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Yi Guo, Wei-Dong Le, Joseph Jankovic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.23693"}], "href": "https://doi.org/10.1002/mds.23693"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21469209"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21469209"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Jia Liu, Qi-Ying Sun, Bei-Sha Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brainres.2011.03.064"}], "href": "https://doi.org/10.1016/j.brainres.2011.03.064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21524731"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21524731"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Katarzyna Derwińska, Hanna Mierzewska, Alicja Goszczańska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.32020"}], "href": "https://doi.org/10.1002/ajmg.b.32020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22223473"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22223473"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Olle Bergman, Lars Westberg, Lars-Göran Nilsson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prog Neuropsychopharmacol Biol Psychiatry (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.pnpbp.2010.05.032"}], "href": "https://doi.org/10.1016/j.pnpbp.2010.05.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20570600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20570600"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "L-H Yu, Z-F Lin, Y Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor Pitx3 is a risk modifier for Parkinson's disease in a Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1468-1331.2010.03281.x"}], "href": "https://doi.org/10.1111/j.1468-1331.2010.03281.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21138504"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21138504"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Yaxing Gui, Yijia Zhao, Hai Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel synonymous SNP in PITX3 is associated with Parkinson's disease in Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Swiss Med Wkly (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4414/smw.2012.13521"}], "href": "https://doi.org/10.4414/smw.2012.13521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22411443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22411443"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Lanhua Tang, Shushan Zhao, Meiping Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meta-analysis of association between PITX3 gene polymorphism and Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2012.02.025"}], "href": "https://doi.org/10.1016/j.jns.2012.02.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22429667"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22429667"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "David Bäckström, Magdalena Eriksson Domellöf, Gabriel Granåsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PITX3 genotype and risk of dementia in Parkinson's disease: A population-based study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2017.08.3259"}], "href": "https://doi.org/10.1016/j.jns.2017.08.3259"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28991698"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28991698"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "H Chen, Z Song, L Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic analysis of PITX3 variants in patients with essential tremor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neurol Scand (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ane.12608"}], "href": "https://doi.org/10.1111/ane.12608"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27145793"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27145793"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Yanning Cai, Hui Ding, Zhuqin Gu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants of the PITX3 gene are not associated with late-onset sporadic Parkinson's disease in a Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2011.04.073"}], "href": "https://doi.org/10.1016/j.neulet.2011.04.073"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21565251"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21565251"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Yanning Cai, Hui Ding, Zhuqin Gu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PITX3 polymorphism is not associated with Parkinson's disease in a Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2011.10.034"}], "href": "https://doi.org/10.1016/j.neulet.2011.10.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22037506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22037506"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Guozhen Qiu, Chenying Fu, Guo Hua Liang "}, {"type": "b", "children": [{"type": "t", "text": "Association between PITX3 promoter polymorphism and risk of Parkinson's disease: the impact of ethnicity and onset age."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2013.12.054"}], "href": "https://doi.org/10.1016/j.neulet.2013.12.054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24394914"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24394914"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Carla Bidinost, Masayuki Matsumoto, Daniel Chung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.05-1095"}], "href": "https://doi.org/10.1167/iovs.05-1095"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16565358"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16565358"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Kim M Summers, Stephen J Withers, Glen A Gole, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18989383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18989383"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Satoru Sakazume, Elena Sorokina, Yoshiki Iwamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional analysis of human mutations in homeodomain transcription factor PITX3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Mol Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2199-8-84"}], "href": "https://doi.org/10.1186/1471-2199-8-84"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17888164"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17888164"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Vanita Berry, Peter J Francis, Quincy Prescott, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2011)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21633712"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21633712"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Simone Finzi, Yingying Li, Thomas N Mitchell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Posterior polar cataract: genetic analysis of a large family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13816810500229124"}], "href": "https://doi.org/10.1080/13816810500229124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16272057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16272057"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Zehua Wu, Delong Meng, Chengbo Fang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2019.9989"}], "href": "https://doi.org/10.3892/mmr.2019.9989"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30816539"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30816539"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Vanita Berry, Alex Ionides, Nikolas Pontikos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eye (Lond) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41433-021-01711-x"}], "href": "https://doi.org/10.1038/s41433-021-01711-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34345029"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34345029"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Manèl Chograni, Myriam Chaabouni, Imen Chelly, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2010)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20376326"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20376326"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Enora Moutin, Fabrice Raynaud, Laurent Fagni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GKAP-DLC2 interaction organizes the postsynaptic scaffold complex to enhance synaptic NMDA receptor activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.098160"}], "href": "https://doi.org/10.1242/jcs.098160"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22328512"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22328512"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Emily Eva Holmes, Diane Goltz, Verena Sailer, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PITX3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " promoter methylation is a prognostic biomarker for biochemical recurrence-free survival in prostate cancer patients after radical prostatectomy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Epigenetics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13148-016-0270-x"}], "href": "https://doi.org/10.1186/s13148-016-0270-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27708722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27708722"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Zygmunt Jamrozik, Mariusz Berdynski, Cezary Zekanowski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Clin Lab Sci (2013)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23694789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23694789"}]}]}]}
Synonyms PTX3, ASOD, ASGD1, CTRCT11, ASMD, CTPP4
Proteins PITX3_HUMAN
NCBI Gene ID 5309
API
Download Associations
Predicted Functions View PITX3's ARCHS4 Predicted Functions.
Co-expressed Genes View PITX3's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View PITX3's ARCHS4 Predicted Functions.

Functional Associations

PITX3 has 6,821 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 107 datasets.

Click the + buttons to view associations for PITX3 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Achilles Cell Line Gene Essentiality Profiles cell lines with fitness changed by PITX3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of PITX3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of PITX3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of PITX3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of PITX3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of PITX3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Cell Line Gene Expression Profiles cell lines with high or low expression of PITX3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of PITX3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of PITX3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of PITX3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of PITX3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of PITX3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CCLE Cell Line Proteomics Cell lines associated with PITX3 protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with PITX3 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of PITX3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of PITX3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of PITX3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations phenotypes associated with PITX3 gene from the curated ClinVar Gene-Phenotype Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with PITX3 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing PITX3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing PITX3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with PITX3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with PITX3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with PITX3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Chemical Interactions chemicals interacting with PITX3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
CTD Gene-Disease Associations diseases associated with PITX3 gene/protein from the curated CTD Gene-Disease Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by PITX3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Curated Gene-Disease Association Evidence Scores diseases involving PITX3 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving PITX3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with PITX3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with PITX3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with PITX3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with PITX3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with PITX3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at PITX3 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of PITX3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of PITX3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing PITX3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with PITX3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with PITX3 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GDSC Cell Line Gene Expression Profiles cell lines with high or low expression of PITX3 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with PITX3 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing PITX3 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of PITX3 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GlyGen Glycosylated Proteins ligands (chemical) binding PITX3 protein from the GlyGen Glycosylated Proteins dataset.
GO Biological Process Annotations 2015 biological processes involving PITX3 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving PITX3 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving PITX3 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing PITX3 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2023 cellular components containing PITX3 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing PITX3 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by PITX3 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by PITX3 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by PITX3 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of PITX3 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of PITX3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of PITX3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of PITX3 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with PITX3 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of PITX3 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of PITX3 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with PITX3 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with PITX3 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by PITX3 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for PITX3 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of PITX3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of PITX3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of PITX3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of PITX3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with PITX3 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of PITX3 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of PITX3 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of PITX3 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
LOCATE Curated Protein Localization Annotations cellular components containing PITX3 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain PITX3 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by PITX3 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting PITX3 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of PITX3 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of PITX3 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by PITX3 gene mutations from the MPO Gene-Phenotype Associations dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of PITX3 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of PITX3 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
OMIM Gene-Disease Associations phenotypes associated with PITX3 gene from the curated OMIM Gene-Disease Associations dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for PITX3 from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of PITX3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of PITX3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving PITX3 protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving PITX3 protein from the Wikipathways PFOCR 2024 dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of PITX3 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at PITX3 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of PITX3 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of PITX3 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of PITX3 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of PITX3 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of PITX3 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of PITX3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of PITX3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of PITX3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with PITX3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with PITX3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2014 pathways involving PITX3 protein from the Wikipathways Pathways 2014 dataset.
WikiPathways Pathways 2024 pathways involving PITX3 protein from the WikiPathways Pathways 2024 dataset.