Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Vivi Li
 + 332 word(s) 332 2020-12-15 07:52:28

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. F2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5493 (accessed on 24 April 2024).
Li V. F2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5493. Accessed April 24, 2024.
Li, Vivi. "F2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5493 (accessed April 24, 2024).
Li, V. (2020, December 24). F2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5493
Li, Vivi. "F2 Gene." Encyclopedia. Web. 24 December, 2020.
F2 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/f2

Coagulation factor II, thrombin

genes

1. Normal Function

The F2 gene provides instructions for making a protein called prothrombin (also called coagulation factor II). Coagulation factors are a group of related proteins that are essential for normal blood clotting (hemostasis). After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss.

Prothrombin is made chiefly by cells in the liver. The protein circulates in the bloodstream in an inactive form until an injury occurs that damages blood vessels. In response to injury, prothrombin is converted to its active form, thrombin. Thrombin then converts a protein called fibrinogen into fibrin, the primary protein that makes up blood clots.

Thrombin is also thought to be involved in cell growth and division (proliferation), tissue repair, and the formation of new blood vessels (angiogenesis).

2. Health Conditions Related to Genetic Changes

2.1 Prothrombin Deficiency

More than 50 mutations in the F2 gene have been found to cause prothrombin deficiency. Most of these mutations change one protein building block (amino acid) in prothrombin. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other mutations allow for a moderate amount of activity of prothrombin, typically causing mild bleeding episodes. None of the mutations identified eliminate prothrombin function. Researchers believe that people cannot live with a complete absence of prothrombin.

2.2 Prothrombin Thrombophilia

The mutation that causes most cases of prothrombin thrombophilia changes one DNA building block (nucleotide) in the F2 gene. Specifically, it replaces the nucleotide guanine with the nucleotide adenine at position 20210 (written G20210A or 20210G>A). This mutation, which occurs in a region of the gene called the 3' untranslated region, causes the gene to be overactive and leads to the production of too much prothrombin. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots.

3. Other Names for This Gene

  • Blood Coagulation Factor II

  • coagulation factor II

  • coagulation factor II (thrombin)

  • prothrombin B-chain

  • PT

  • Q7Z7P3_HUMAN

  • serine protease

References

  1. Akhavan S, Mannucci PM, Lak M, Mancuso G, Mazzucconi MG, Rocino A, Jenkins PV,Perkins SJ. Identification and three-dimensional structural analysis of ninenovel mutations in patients with prothrombin deficiency. Thromb Haemost. 2000Dec;84(6):989-97.
  2. Danckwardt S, Hartmann K, Gehring NH, Hentze MW, Kulozik AE. 3' end processingof the prothrombin mRNA in thrombophilia. Acta Haematol. 2006;115(3-4):192-7.Review.
  3. Jayandharan G, Viswabandya A, Baidya S, Nair SC, Shaji RV, Chandy M,Srivastava A. Molecular genetics of hereditary prothrombin deficiency in Indianpatients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1)mutation. J Thromb Haemost. 2005 Jul;3(7):1446-53.
  4. McGlennen RC, Key NS. Clinical and laboratory management of the prothrombinG20210A mutation. Arch Pathol Lab Med. 2002 Nov;126(11):1319-25. Review.
  5. Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ,Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Technicalstandards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin20210G >A testing): a disease-specific supplement to the standards and guidelinesfor clinical genetics laboratories. Genet Med. 2005 Jul-Aug;7(6):444-53.
  6. Varga EA, Moll S. Cardiology patient pages. Prothrombin 20210 mutation (factorII mutation). Circulation. 2004 Jul 20;110(3):e15-8.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Vivi Li
View Times: 352
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback