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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FGB
fibrinogen beta chain
Chromosome 4 Β· 4q31.3
NCBI Gene: 2244Ensembl: ENSG00000171564.13HGNC: HGNC:3662UniProt: P02675
471PubMed Papers
22Diseases
5Drugs
17Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of heterotypic cell-cell adhesioncell adhesion molecule bindingstructural molecule activityextracellular matrix structural constituentcongenital afibrinogenemiafamilial dysfibrinogenemiaFamilial afibrinogenemiacancer
✦AI Summary

FGB (fibrinogen beta chain) encodes one of three polypeptide chains that form fibrinogen, a 340 kDa plasma glycoprotein essential for hemostasis 1. The FGB-derived BΞ² chain, together with FGA and FGG chains, polymerizes into insoluble fibrin matrix following thrombin cleavage, serving as a primary component of blood clots 2. Beyond coagulation, fibrinogen functions in wound repair stabilization and cell migration during re-epithelialization, and enhances platelet activation 1. Fibrinogen levels are regulated by inflammatory cytokines and can increase up to 3-fold during acute inflammation 1. Mutations in FGB cause congenital fibrinogen disorders, including afibrinogenemia and dysfibrinogenemia, characterized by bleeding complications and, notably, thrombotic events (11% in afibrinogenemia) 2. FGB genetic polymorphisms (-148C>T and -455G/A) are associated with increased ischemic stroke and coronary artery disease risk, particularly in Asian populations [PMID:25867317; 36]. Maternal fibrinogen is essential for successful pregnancy, with dysfibrinogenemic women experiencing high spontaneous abortion rates (86%) 2. Understanding FGB regulation and mutation mechanisms offers potential therapeutic targets for modulating fibrinogen in bleeding, thrombotic, and inflammatory diseases.

Sources cited
1
FGB encodes the BΞ² polypeptide chain; fibrinogen is a 340 kDa hexameric glycoprotein synthesized from three genes; expression is induced by inflammatory cytokines
PMID: 39216273
2
FGB mutations cause congenital fibrinogen deficiency; afibrinogenemia and hypofibrinogenemia have 11% and 10% thrombotic event rates; dysfibrinogenemia causes 86% spontaneous abortion rate
PMID: 38286442
3
FGB -148C>T polymorphism is associated with increased ischemic stroke risk with odds ratio 1.32 for T vs C allele
PMID: 25867317
4
FGB -455G/A and -148C/T polymorphisms are associated with coronary artery disease susceptibility in Chinese populations
PMID: 23129316
5
FGB has relatively low variant frequency in blood and bleeding disorder gene studies, supporting its importance in hemostasis
PMID: 34272389
Disease Associationsβ“˜22
congenital afibrinogenemiaOpen Targets
0.79Strong
familial dysfibrinogenemiaOpen Targets
0.72Strong
Familial afibrinogenemiaOpen Targets
0.70Moderate
cancerOpen Targets
0.59Moderate
hemorrhageOpen Targets
0.57Moderate
familial hypodysfibrinogenemiaOpen Targets
0.56Moderate
Noonan syndromeOpen Targets
0.53Moderate
hypertrophic cardiomyopathyOpen Targets
0.50Moderate
Costello syndromeOpen Targets
0.50Moderate
Recurrent thrombophlebitisOpen Targets
0.46Moderate
deep vein thrombosisOpen Targets
0.46Moderate
venous thromboembolismOpen Targets
0.44Moderate
congenital fibrinogen deficiencyOpen Targets
0.40Weak
pulmonary embolismOpen Targets
0.38Weak
thrombophiliaOpen Targets
0.37Weak
cardiofaciocutaneous syndromeOpen Targets
0.37Weak
familial hypofibrinogenemiaOpen Targets
0.37Weak
inborn error of immunityOpen Targets
0.37Weak
Rare hereditary thrombophiliaOpen Targets
0.37Weak
wound healingOpen Targets
0.37Weak
Congenital afibrinogenemiaUniProt
Dysfibrinogenemia, congenitalUniProt
Pathogenic Variants17
NM_005141.5(FGB):c.134del (p.Gly45fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 45
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)Pathogenic
Congenital afibrinogenemia|Hypofibrinogenemia|not provided|Afibrinogenemia
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)Pathogenic
FIBRINOGEN CHRISTCHURCH 2|Hypofibrinogenemia|not provided|See cases|Familial dysfibrinogenemia
β˜…β˜…β˜†β˜†2025β†’ Residue 44
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)Likely pathogenic
Familial dysfibrinogenemia|FGB-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 167
NM_005141.5(FGB):c.936del (p.Lys313fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 313
NM_005141.5(FGB):c.772C>T (p.Gln258Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 258
NM_005141.5(FGB):c.1268_1269del (p.Gln423fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 423
NM_005141.5(FGB):c.1133C>T (p.Thr378Ile)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 378
NM_005141.5(FGB):c.490+1G>CLikely pathogenic
Familial dysfibrinogenemia
β˜…β˜†β˜†β˜†2020
NM_005141.5(FGB):c.188del (p.Pro63fs)Likely pathogenic
FGB-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 63
NM_005141.5(FGB):c.974G>C (p.Gly325Ala)Pathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2016β†’ Residue 325
NM_005141.5(FGB):c.605T>A (p.Leu202Gln)Pathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2004β†’ Residue 202
NM_005141.5(FGB):c.958+13C>TPathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2002
NM_005141.5(FGB):c.1244+1G>TPathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2002
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp)Pathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2000β†’ Residue 430
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg)Pathogenic
Congenital afibrinogenemia
β˜†β˜†β˜†β˜†2000β†’ Residue 383
NM_005141.5(FGB):c.679T>C (p.Cys227Arg)Pathogenic
Familial dysfibrinogenemia
β˜†β˜†β˜†β˜†β†’ Residue 227
View on ClinVar β†—
Drug Targets5
ALFIMEPRASEPhase III
Fibrinogen hydrolytic enzyme
peripheral vascular disease
ANCRODApproved
Fibrinogen hydrolytic enzyme
Recurrent thrombophlebitis
FIBRINOGEN, HUMANApproved
Fibrinogen exogenous protein
hemorrhage
FIBRINOLYSIN, HUMANApproved
Fibrinogen inhibitor
Recurrent thrombophlebitis
PLASMINOGENPhase III
Fibrinogen hydrolytic enzyme
stroke
Related Genes
APOBProtein interaction99%ITGB3Protein interaction98%SERPINA5Protein interaction97%LPAProtein interaction94%PLGProtein interaction94%ITGA2BProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FGBAPOBITGB3SERPINA5LPAPLGITGA2B
PROTEIN STRUCTURE
Preparing viewer…
PDB6BIJ Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.46 [0.33–0.66]
RankingsWhere FGB stands among ~20K protein-coding genes
  • #569of 20,598
    Most Researched471 Β· top 5%
  • #448of 1,025
    FDA-Approved Drug Targets3
  • #2,308of 5,498
    Most Pathogenic Variants17
  • #4,846of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedFGB
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Treatment landscape of triple-negative breast cancer - expanded options, evolving needs.
PMID: 34754128
Nat Rev Clin Oncol Β· 2022
1.00
2
Molecular classification of blood and bleeding disorder genes.
PMID: 34272389
NPJ Genom Med Β· 2021
0.90
3
Hidradenitis suppurativa: new insights into disease mechanisms and an evolving treatment landscape.
PMID: 37715694
Br J Dermatol Β· 2024
0.80
4
Primitive Hepatoblasts Driving Early Liver Development.
PMID: 40501632
bioRxiv Β· 2025
0.72
5
Association between the FGB gene polymorphism and ischemic stroke: a meta-analysis.
PMID: 25867317
Genet Mol Res Β· 2015
0.70