orthodenticle homeobox 2
Zuletzt aktualisiert 30. Sept. 2025
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The OTX2 gene provides instructions for making a type of protein called a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help regulate the activity of other genes. The OTX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.
Normal function
The OTX2 gene provides instructions for making a type of protein called a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help regulate the activity of other genes. The OTX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.
The OTX2 protein plays a critical role in regulating the genes that are involved in the development of the eyes and related structures, such as the nerves that carry visual information from the eyes to the brain (optic nerves). The OTX2 protein is also involved in brain development, including the formation of the pituitary gland at the base of the brain. The pituitary gland produces hormones that help control growth, reproduction, and other critical body functions.
Conditions referring to this gene or chromosome
Other names
CPHD6
MCOPS5
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Weiterführende Lektüre und Referenzen
- orthodenticle homeobox 2; MedlinePlus, National Library of Medicine.
- Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.
- Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab. 2008 Oct;93(10):3697-702. doi: 10.1210/jc.2008-0720. Epub 2008 Jul 15.
- Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab. 2010 Feb;95(2):756-64. doi: 10.1210/jc.2009-1334. Epub 2009 Dec 4.
- Diaczok D, Romero C, Zunich J, Marshall I, Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008 Nov;93(11):4351-9. doi: 10.1210/jc.2008-1189. Epub 2008 Aug 26.
- Harding P, Moosajee M. The Molecular Basis of Human Anophthalmia and Microphthalmia. J Dev Biol. 2019 Aug 14;7(3):16. doi: 10.3390/jdb7030016.
- Lu Y, Labak CM, Jain N, Purvis IJ, Guda MR, Bach SE, Tsung AJ, Asuthkar S, Velpula KK. OTX2 expression contributes to proliferation and progression in Myc-amplified medulloblastoma. Am J Cancer Res. 2017 Mar 1;7(3):647-656. eCollection 2017.
- Patat O, van Ravenswaaij-Arts CM, Tantau J, Corsten-Janssen N, van Tintelen JP, Dijkhuizen T, Kaplan J, Chassaing N. Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. Mol Syndromol. 2013 Sep;4(6):302-5. doi: 10.1159/000353727. Epub 2013 Jul 9.
- Plaisancie J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799-830. doi: 10.1007/s00439-019-01977-y. Epub 2019 Feb 14.
- Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21.
- Saulnier O, Zagozewski J, Liang L, Hendrikse LD, Layug P, Gordon V, Aldinger KA, Haldipur P, Borlase S, Coudiere-Morrison L, Cai T, Martell E, Gonzales NM, Palidwor G, Porter CJ, Richard S, Sharif T, Millen KJ, Doble BW, Taylor MD, Werbowetski-Ogilvie TE. A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing. Nat Cell Biol. 2024 Aug;26(8):1233-1246. doi: 10.1038/s41556-024-01460-5. Epub 2024 Jul 18.
- Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 2009 Jan;94(1):314-9. doi: 10.1210/jc.2008-1219. Epub 2008 Oct 14.
- Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11):E278-83. doi: 10.1002/humu.20869.
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30. Sept. 2025 | Neueste Version
1. Jul 2025 | Ursprünglich veröffentlicht
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