PITX2

Paired-like homeodomain transcription factor 2
File:PBB Protein PITX2 image.jpg PDB rendering based on 1yz8.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1yz8​
Identifiers
Symbols	PITX2 ; PTX2; ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx2; RGS; RIEG; RIEG1; RS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 55454
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PITX2 207558 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Paired-like homeodomain transcription factor 2, also known as PITX2, is a human gene.

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. This protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes. This protein is involved in the development of the eye, tooth and abdominal organs. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Three transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• Franco D, Campione M (2003). "The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases". Trends Cardiovasc. Med. 13 (4): 157–63. PMID 12732450.
• Hjalt TA, Semina EV (2007). "Current molecular understanding of Axenfeld-Rieger syndrome". Expert reviews in molecular medicine. 7 (25): 1–17. doi:10.1017/S1462399405010082. PMID 16274491.
• Murray JC, Bennett SR, Kwitek AE; et al. (1993). "Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4". Nat. Genet. 2 (1): 46–9. doi:10.1038/ng0992-46. PMID 1303248.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Héon E, Sheth BP, Kalenak JW; et al. (1995). "Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)". Hum. Mol. Genet. 4 (8): 1435–9. PMID 7581385.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Walter MA, Mirzayans F, Mears AJ; et al. (1996). "Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct". Ophthalmology. 103 (11): 1907–15. PMID 8942889.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Semina EV, Reiter R, Leysens NJ; et al. (1997). "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome". Nat. Genet. 14 (4): 392–9. doi:10.1038/ng1296-392. PMID 8944018.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Alward WL, Semina EV, Kalenak JW; et al. (1998). "Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene". Am. J. Ophthalmol. 125 (1): 98–100. PMID 9437321.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arakawa H, Nakamura T, Zhadanov AB; et al. (1998). "Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene". Proc. Natl. Acad. Sci. U.S.A. 95 (8): 4573–8. PMID 9539779.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kulak SC, Kozlowski K, Semina EV; et al. (1999). "Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome". Hum. Mol. Genet. 7 (7): 1113–7. PMID 9618168.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Amendt BA, Sutherland LB, Semina EV, Russo AF (1998). "The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities". J. Biol. Chem. 273 (32): 20066–72. PMID 9685346.CS1 maint: Multiple names: authors list (link)
• Yoshioka H, Meno C, Koshiba K; et al. (1998). "Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry". Cell. 94 (3): 299–305. PMID 9708732.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Doward W, Perveen R, Lloyd IC; et al. (1999). "A mutation in the RIEG1 gene associated with Peters' anomaly". J. Med. Genet. 36 (2): 152–5. PMID 10051017.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pellegrini-Bouiller I, Manrique C, Gunz G; et al. (1999). "Expression of the members of the Ptx family of transcription factors in human pituitary adenomas". J. Clin. Endocrinol. Metab. 84 (6): 2212–20. PMID 10372733.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hjalt TA, Amendt BA, Murray JC (2001). "PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome". J. Cell Biol. 152 (3): 545–52. PMID 11157981.CS1 maint: Multiple names: authors list (link)
• Priston M, Kozlowski K, Gill D; et al. (2001). "Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome". Hum. Mol. Genet. 10 (16): 1631–8. PMID 11487566.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Green PD, Hjalt TA, Kirk DE; et al. (2002). "Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development". Gene Expr. 9 (6): 265–81. PMID 11763998.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vincent AL, Billingsley G, Buys Y; et al. (2002). "Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene". Am. J. Hum. Genet. 70 (2): 448–60. PMID 11774072.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Borges AS, Susanna R, Carani JC; et al. (2002). "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil". J. Glaucoma. 11 (1): 51–6. PMID 11821690.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cox CJ, Espinoza HM, McWilliams B; et al. (2002). "Differential regulation of gene expression by PITX2 isoforms". J. Biol. Chem. 277 (28): 25001–10. doi:10.1074/jbc.M201737200. PMID 11948188.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Quentien MH, Pitoia F, Gunz G; et al. (2002). "Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants". Endocrinology. 143 (8): 2839–51. PMID 12130547.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)