Gene: FGB
Alternate names for this Gene: HEL-S-78p
Gene 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. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 4
Location in Chromosome : 4q31.3
Description of this Gene: fibrinogen beta chain
Type of Gene: protein-coding
rs6054 in
FGB gene and
Bleeding tendency
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
rs121909621 in
FGB gene and
Congenital hypofibrinogenemia
PMID 10666208 2000 Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
PMID 25427968 2015 Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
PMID 11468164 2001 The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked dimers from a mixture of dimers and cysteine-linked monomers.
PMID 15070683 2004 Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.
rs121909620 in
FGB gene and
Dysfibrinogenemia, Congenital
PMID 1634610 1992 Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr.
rs150768229 in
FGB gene and
Fibrinogen assay
PMID 26561523 2016 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
PMID 20978265 2011 Common fibrinogen gene single nucleotide polymorphisms (FGB rs1800787 and FGG rs2066861) significantly associated with fibrinogen in EAs were prevalent in AAs and showed consistent associations.
PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
PMID 23969696 2013 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.
PMID 20031576 2009 Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.
PMID 20978265 2011 We identified a rare Pro265Leu variant in FGB (rs6054) associated with lower fibrinogen.
PMID 20031577 2009 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.
rs1800787 in
FGB gene and
Fibrinogen, CTCAE
PMID 20978265 2011 Common fibrinogen gene single nucleotide polymorphisms (FGB rs1800787 and FGG rs2066861) significantly associated with fibrinogen in EAs were prevalent in AAs and showed consistent associations.
PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
PMID 20031576 2009 Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
PMID 23969696 2013 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.
PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
PMID 20978265 2011 We identified a rare Pro265Leu variant in FGB (rs6054) associated with lower fibrinogen.
PMID 20031577 2009 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.
rs121909616 in
FGB gene and
Hypofibrinogenemia
PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
rs6054 in
FGB gene and
Serum total cholesterol measurement
PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.
rs1800787 in
FGB gene and
fibrinogen activity
PMID 20978265 2011 Common fibrinogen gene single nucleotide polymorphisms (FGB rs1800787 and FGG rs2066861) significantly associated with fibrinogen in EAs were prevalent in AAs and showed consistent associations.
PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
PMID 23969696 2013 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.
PMID 20031576 2009 Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
PMID 20978265 2011 We identified a rare Pro265Leu variant in FGB (rs6054) associated with lower fibrinogen.
PMID 20031577 2009 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.