{"id":10645,"date":"2019-06-04T07:56:08","date_gmt":"2019-06-04T05:56:08","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=10645"},"modified":"2019-06-04T07:56:08","modified_gmt":"2019-06-04T05:56:08","slug":"gene-of-the-month-may-rras2","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-rras2\/","title":{"rendered":"Gene of the Month &#8211; May: RRAS2"},"content":{"rendered":"<p>The protein encoded by <em>RRAS2<\/em> is a ubiquitously expressed small GTPase with an important function as a signal transducer in the cell. Disturbances in signaling cascades controlling the cell\u2019s reaction to extracellular stimuli are the underlying cause of various disorders affecting development. The RAS-MAPK pathway is one of these central signaling cascades and its upregulation results, among others, in Noonan syndrome, a developmental disorder with distinctive craniofacial appearance, congenital heart defect, short stature, variable cognitive impairment and a predisposition to malignancies. Mutations in more than 10 genes have been described as causing this syndrome, but still about 10 % of patients with clinically suspected Noonan syndrome carry no mutation in known genes associated with RASopathies.<\/p>\n<p>Somatic mutations in <em>RRAS2<\/em> have previously been associated with the growth of certain tumors. Now, the <em>American Journal of Human Genetics<\/em> reports on new insights into <em>RRAS2<\/em>. Two recent studies describe germline mutations of <em>RRAS2<\/em> as a new, rare cause of Noonan syndrome. In one study, led by the Institute of Human Genetics of the University Magdeburg, researchers identified in six non-related families autosomal dominant variants in <em>RRAS2<\/em> as the underlying cause of Noonan syndrome in their patients. They also describe the predicted effects of the identified mutations as increasing the activity of the MAPK signaling cascade and affecting cell morphology and cytoskeletal rearrangement.<\/p>\n[vc_column_text] Capri Y, Flex E, Krumbach OHF, [\u2026] Zenker M. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. <em>Am J Hum Genet.<\/em> 2019 May 13. pii: S0002-9297(19)30161-2. doi: 10.1016\/j.ajhg.2019.04.013. [Epub ahead of print][\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31130282&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n[vc_column_text] Niihori T, Nagai K, Fujita A, [\u2026] Aoki Y. Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. <em>Am J Hum Genet.<\/em> 2019 May 13. pii: S0002-9297(19)30162-4. doi: 10.1016\/j.ajhg.2019.04.014. [Epub ahead of print][\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31130285&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>The protein encoded by RRAS2 is a ubiquitously expressed small GTPase with an important function as a signal transducer in the cell. Disturbances in signaling cascades controlling the cell\u2019s reaction to extracellular stimuli are the underlying cause of various disorders affecting development. The RAS-MAPK pathway is one of these central signaling cascades and its upregulation [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-10645","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - May: RRAS2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-rras2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - May: RRAS2 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"The protein encoded by RRAS2 is a ubiquitously expressed small GTPase with an important function as a signal transducer in the cell. 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