FGB fibrinogen beta chain
Gene ID: 2244, updated on 9-Dec-2024Gene type: protein coding
Also known as: HEL-S-78p
- See all available tests in GTR for this gene
- Go to complete Gene record for FGB
- Go to Variation Viewer for FGB variants
Summary
The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. GeneReviews: Not available | |
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. GeneReviews: Not available | |
Congenital afibrinogenemia | See labs |
Familial dysfibrinogenemia | See labs |
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. GeneReviews: Not available | |
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. GeneReviews: Not available |
Genomic context
- Location:
- 4q31.3
- Sequence:
- Chromosome: 4; NC_000004.12 (154562980..154572807)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for FGB variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- A Database For Human Fibrinogen Variants
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGB database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.