LP14459-9
F2 gene
Active
Descriptions
Factor II DNA analysis: a point mutation (G20210A) in the Factor II (prothrombin) gene is the second most common cause of inherited thrombosis. The mutation substitutes a guanine with an adenine at nucleotide 20210. Up to 20% of inherited thrombophilia is due to this mutation. Incidence is 1-2% among Caucasians and 0.1% in African Americans. Heterozygous carriers of this mutation have prothrombin levels 30% higher than normal and have an associated 3-fold increased risk for venous thrombosis. The prothrombin is cleaved to thrombin which acts like a serine protease in the coagulation cascade. This results in the production of fibrin and promotes clotting activity. Mutation has also been reported in patients with idiopathic portal vein thrombosis, patients using oral contraceptives, and pregnant patients with placental abruptions and fetal growth restrictions. Up to 40% of patients with Factor II mutation also carry the Factor V Leiden mutation. Source: Regenstrief Institute
The F2 gene (coagulation factor II (thrombin)) [HGNC Gene ID:3535] is located on chromosome 11p11. Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014] [NCBI Gene ID:2147] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- F2 gene
- Part Display Name
- F2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- F2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP14459-9 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP14459-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | F2 基因 Synonyms: 凝血因子 2 基因; |
| fr-CA | French (Canada) | Gène F2 |
| et-EE | Estonian (Estonia) | F2 geen |
| es-ES | Spanish (Spain) | Gen F2 |
| it-IT | Italian (Italy) | F2, gene Synonyms: Gene F2 |
| tr-TR | Turkish (Turkey) | F2 geni |
| ru-RU | Russian (Russian Federation) | F2 ген |
| nl-NL | Dutch (Netherlands) | F2-gen Synonyms: f2 gen |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://