notch receptor 2
अंतिम अद्यतन 16 दिसम्बर 2025
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
The NOTCH2 gene provides instructions for making a protein that belongs to a large family of receptor proteins. Other proteins, called ligands, can fit into specific sites on receptor proteins, like a key into a lock. When a ligand attaches to the NOTCH2 receptor protein, it triggers a signaling pathway that is important for normal growth and development. Before birth, NOTCH2 signaling plays a role in the development of cells that will become part of the heart, liver, kidneys, teeth, bones, and other structures in the growing embryo. After birth, NOTCH2 signaling is involved in immune system function; tissue repair; and a process called bone remodeling, in which old bone is removed and new bone is created to replace it. NOTCH2 signaling also plays a role in the communication between neighboring cells.
Normal function
The NOTCH2 gene provides instructions for making a protein that belongs to a large family of receptor proteins. Other proteins, called ligands, can fit into specific sites on receptor proteins, like a key into a lock. When a ligand attaches to the NOTCH2 receptor protein, it triggers a signaling pathway that is important for normal growth and development. Before birth, NOTCH2 signaling plays a role in the development of cells that will become part of the heart, liver, kidneys, teeth, bones, and other structures in the growing embryo. After birth, NOTCH2 signaling is involved in immune system function; tissue repair; and a process called bone remodeling, in which old bone is removed and new bone is created to replace it. NOTCH2 signaling also plays a role in the communication between neighboring cells.
The NOTCH2 receptor protein is embedded in the cell membrane and has several major parts, including a region that extends outward from the surface of the cell and a region that lies inside the cell. When a ligand binds to the outer portion of the NOTCH2 receptor protein, the inner portion separates from the rest of the protein. This part of the protein travels into the cell's nucleus, where it helps regulate the activity of specific genes.
Conditions referring to this gene or chromosome
Other names
hN2
notch 2
Related patient information and medicines
Patient information leaflet
स्वाद और गंध का नुकसान
Taste and smell are often referred to के रूप में a pair because they are closely interlinked. Our sense of taste is powered by taste receptors found in the taste buds on our tongues and also in our mouths. This is detected by smell receptors, which are found in the lining of the nose, and the smell of ... Smell, like taste, is a chemical sense detected by.
Patient information leaflet
स्तन कैंसर
Invasive lobular breast cancers begins in one of the lobes of the breast. They account for about 1 in 10 of invasive breast cancers. Invasive breast cancers are also divided into those where cancer cells have invaded into local blood or lymphatic vessels and those that have not. Invasive breast cancer is able to spread outside the breast..
Patient information leaflet
मायस्थेनिया ग्रेविस
The muscles around the eyes are commonly affected first. This causes drooping eyelids and double vision. Treatment is usually effective. The muscles become easily tired and weak. What causes myasthenia gravis. मायस्थेनिया ग्रेविस है an autoimmune disease. This means that the immune system (which normally protects the body from infections) mistakenly.
Patient information leaflet
क्या मैं बिसोप्रोलोल और ट्रिम्बो को एक साथ ले सकता हूँ?
Bisoprolol and Trimbow (which contains formoterol) work in opposite ways on the airways. Why this happens Bisoprolol है a 'beta-blocker' and formoterol (in Trimbow) है a 'beta-agonist'. ... Our दवाओं की परस्पर क्रिया जाँचकर्ता helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer.
Patient information leaflet
मास्टोसाइटोसिस और मास्ट सेल विकार
A mast cell is a type of white blood cell. There are several forms of mastocytosis. In one, there are too many mast cells in the body: in another the number of mast cells is normal but they are too active. What are mast cells. Mast cells are a type of white blood cell - together, our white blood cells play a major role in our immune system,.
Patient information leaflet
मतली की दवा
Various medicines are available to treat nausea. They work in different ways to one another. These medicines are not usually started until your doctor is sure what has caused your nausea. This is because knowing the cause helps your doctor to choose the right medicine for you. If they are required then any medicine usually only needs to be taken.
अधिक पठन और संदर्भ
- notch receptor 2; MedlinePlus, National Library of Medicine.
- Abdelkarim M, Alageel D, Ahsan F, Alhuthil R, Alsarhani H, Alsagheir A. Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report. Bone Rep. 2023 Aug 18;19:101709. doi: 10.1016/j.bonr.2023.101709. eCollection 2023 Dec.
- Canalis E, Yu J, Denker E, Schilling L, Deymier A, Hao B, Carpenter T. A novel variant of NOTCH2 causes skeletal fragility. Bone. 2026 Jan;202:117702. doi: 10.1016/j.bone.2025.117702. Epub 2025 Nov 2.
- Canalis E. Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. Metabolism. 2018 Mar;80:48-56. doi: 10.1016/j.metabol.2017.08.002. Epub 2017 Aug 24.
- Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
- Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.
- Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium; Michaud JL, Samuels ME. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9.
- McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10.
- Penton AL, Leonard LD, Spinner NB. Notch signaling in human development and disease. Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28.
- Shi Q, Xue C, Zeng Y, Yuan X, Chu Q, Jiang S, Wang J, Zhang Y, Zhu D, Li L. Notch signaling pathway in cancer: from mechanistic insights to targeted therapies. Signal Transduct Target Ther. 2024 May 27;9(1):128. doi: 10.1038/s41392-024-01828-x.
- Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. 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/NBK1273/
- Varadkar P, Kraman M, Despres D, Ma G, Lozier J, McCright B. Notch2 is required for the proliferation of cardiac neural crest-derived smooth muscle cells. Dev Dyn. 2008 Apr;237(4):1144-52. doi: 10.1002/dvdy.21502.
- Xiu MX, Liu YM. The role of oncogenic Notch2 signaling in cancer: a novel therapeutic target. Am J Cancer Res. 2019 May 1;9(5):837-854. eCollection 2019.
- Zanotti S, Canalis E. Notch signaling in skeletal health and disease. Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. Print 2013 Jun.
- Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013 Aug;24(8):2275-81. doi: 10.1007/s00198-013-2298-5. Epub 2013 Feb 7.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.