PITX2

From Wikipedia, the free encyclopedia

Paired-like homeodomain transcription factor 2

PDB rendering based on 1yz8.

Available structures: 1yz8

Identifiers

Symbol(s)

PITX2; PTX2; ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx2; RGS; RIEG; RIEG1; RS

External IDs

OMIM: 601542 MGI: 109340 HomoloGene: 55454

Gene ontology
Molecular Function:	• transcription factor activity • transcription factor binding • sequence-specific DNA binding
Cellular Component:	• nucleus • transcription factor complex
Biological Process:	• regulation of transcription, DNA-dependent • multicellular organismal development • determination of left/right symmetry • organ morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000325 (mRNA)
NP_000316 (protein)

NM_001042502 (mRNA)
NP_001035967 (protein)

Location

Chr 4: 111.76 - 111.78 Mb

Chr 3: 129.19 - 129.21 Mb

Pubmed search

[1]

[2]

Paired-like homeodomain transcription factor 2, also known as PITX2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PITX2 paired-like homeodomain transcription factor 2.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.