SRY-box transcription factor 2
Ultimo aggiornamento 3 Lug 2025
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
The SOX2 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.
Normal function
The SOX2 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 SOX2 protein plays a critical role in regulating the genes that are involved in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes.
Conditions referring to this gene or chromosome
Altri nomi
ANOP3
MCOPS3
SRY box 2
SRY-related HMG-box gene 2
Related patient information and medicines
Patient information leaflet
Cancro alla gola
Cancer of the larynx occurs in people all over the world but is more common is some countries than in others, probably due to exposure to known risk factors (see below). Types of throat cancer There are different types of throat (laryngeal) cancer: Squamous cell carcinoma of the larynx occurs in more than 9 in 10 cases. There are... See the.
Patient information leaflet
Tubercolosi
Assistenza sanitaria insufficiente. AIDS (TB is common in people with AIDS). L number di people with active TB was at an all-time low in the UK in the early 1980s but the number of cases has since increased. This was probably due to a combination of factors. These include: An increase in poverty. If you or your family come from a country where TB is.
Patient information leaflet
Posso prendere Apixaban e Rybelsus insieme?
These two medicines work in different ways and do not typically interfere with how the other is absorbed, broken down, or removed from the body. Why this happens Apixaban is an anticoagulant (blood thinner) that works by blocking a clotting factor called Factor Xa. Rybelsus è a GLP-1 receptor agonist used for type 2 diabetes that mimics a natural.
Patient information leaflet
Steatosi epatica non alcolica
Steatosi epatica non alcolica (NAFLD) describes a range of conditions caused by a build-up of fat within liver cells. It is very common and in many cases is linked to being obese or overweight. Most people with NAFLD do not develop serious liver problems. In some people, the build-up of fat in the liver can lead to serious liver disease..
Patient information leaflet
Schizofrenia
Schizophrenia is a mental disorder. Symptoms include hearing, seeing, smelling or tasting things that are not real (hallucinations); false ideas (delusions); disordered thoughts and problems with feelings, behaviour and motivation. The cause is not clear. In many people symptoms come back (recur) or persist long-term but some people have just one.
Patient information leaflet
Laringite
Laringite is an inflammation of the mucus membranes of your voice box (larynx), which causes you to have a hoarse voice. It is most commonly due to an infection, usually a virus. What is laryngitis. Laryngitis means inflammation and irritation of the larynx, which is commonly referred to as the voice box or vocal cords in your throat. Most cases.
Ulteriori letture e riferimenti
- SRY-box transcription factor 2; MedlinePlus, National Library of Medicine.
- Alatzoglou KS, Kelberman D, Dattani MT. The role of SOX proteins in normal pituitary development. J Endocrinol. 2009 Mar;200(3):245-58. doi: 10.1677/JOE-08-0447. Epub 2008 Dec 12.
- Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23.
- Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL Jr, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF Jr, Seminara SB, Mellon PL, Balasubramanian R. Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms. JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324.
- Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Perez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancie J. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27.
- Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3.
- 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.
- Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 2008 May;93(5):1865-73. doi: 10.1210/jc.2007-2337. Epub 2008 Feb 19.
- Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Sep;116(9):2442-55. doi: 10.1172/JCI28658. Epub 2006 Aug 24.
- 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.
- Tziaferi V, Kelberman D, Dattani MT. The role of SOX2 in hypogonadotropic hypogonadism. Sex Dev. 2008;2(4-5):194-9. doi: 10.1159/000152035. Epub 2008 Nov 5.
- Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014 Aug;57(8):369-80. doi: 10.1016/j.ejmg.2014.05.002. Epub 2014 May 22.
- Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006 May 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Epub 2006 Mar 16.
- Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. 2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1300/
- Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008 Mar 24;14:583-92.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.