FGG Gene - Fibrinogen Gamma Chain
Essential coagulation factor; mutations cause dysfibrinogenemia and hypofibrinogenemia
Gene Information Card
| Symbol | FGG |
|---|---|
| Full Name | Fibrinogen Gamma Chain |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 2266 ncbi.nlm.nih.gov/gene/2266 |
| Ensembl ID | ENSG00000171557 |
| UniProt ID | P02679 |
| OMIM ID | 134850 |
| HGNC ID | 3654 |
| Aliases | FGG, fibrinogen gamma polypeptide |
Description
The FGG gene encodes the gamma chain of fibrinogen, a plasma glycoprotein essential for blood coagulation. Fibrinogen is a hexamer composed of two sets of three chains (Aα, Bβ, γ). The gamma chain mediates platelet aggregation and fibrin cross-linking. Mutations in FGG cause congenital dysfibrinogenemia and hypofibrinogenemia, leading to bleeding or thrombotic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dysfibrinogenemia, congenital | Missense mutations impair fibrin polymerization or cross-linking | ClinVar, OMIM |
| Hypofibrinogenemia, congenital | Nonsense or frameshift mutations reduce fibrinogen production | ClinVar, OMIM |
| Thrombosis, susceptibility to | Gain-of-function mutations (e.g., FGG 10034C>T) increase clot stability | OMIM, PubMed |
| Amyloidosis, hereditary renal | Fibrinogen gamma chain deposition in kidneys due to specific mutations | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 1000.0 | High |
| Plasma | 800.0 | High |
| Blood | 600.0 | High |
| Bone Marrow | 50.0 | Low |
| Spleen | 30.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1200.0 | Hepatocyte cell line |
| Huh-7 | 1100.0 | Hepatocyte cell line |
| K-562 | 10.0 | Myelogenous leukemia |
| HeLa | 5.0 | Cervical carcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.10034C>T (p.Arg301Cys) | Missense | Rare | Gain-of-function; increased clot stability |
| c.901C>T (p.Arg301Trp) | Missense | Rare | Dysfibrinogenemia; impaired polymerization |
| c.1129G>A (p.Gly377Ser) | Missense | Rare | Hypofibrinogenemia; reduced secretion |
| c.1244_1245insT (p.Leu415Phefs*12) | Frameshift | Very rare | Null allele; hypofibrinogenemia |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or abolish fibrinogen gamma chain production, causing hypofibrinogenemia.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg301Cys) that enhance fibrin cross-linking and increase thrombotic risk.
Dominant Negative (DN)
Missense mutations that produce abnormal gamma chains interfering with hexamer assembly and secretion, leading to dysfibrinogenemia.
View complete mutation data:
Gene Ontology (GO)
Pathways
• KEGG hsa04610 – Complement and coagulation cascades
• Reactome R-HSA-140877 – Formation of Fibrin Clot (Clotting Cascade)
• Reactome R-HSA-114608 – Platelet degranulation
Protein Summary
Fibrinogen gamma chain (UniProt P02679) is a 437-amino acid protein that forms the C-terminal portion of the fibrinogen hexamer. It contains a coiled-coil domain and a globular C-terminal domain involved in fibrin polymerization and platelet binding via integrin αIIbβ3. Post-translational modifications include glycosylation and cross-linking by factor XIIIa. The gamma chain is essential for clot formation and wound healing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGG Knockout HEK293 Cell Line | EDJ-KQ4591 | Human | 2266 | Details Get a Quote |
| FGGY Knockout HEK293 Cell Line | EDJ-KQ13477 | Human | 55277 | Details Get a Quote |
| FGGY Knockout A-549 Cell Line | EDJ-KQ43069 | Human | 55277 | Details Get a Quote |
| FGGY Knockout HCT 116 Cell Line | EDJ-KQ43070 | Human | 55277 | Details Get a Quote |
| FGG Knockout A-549 Cell Line | EDJ-KQ27253 | Human | 2266 | Details Get a Quote |
| FGGY Knockout HeLa Cell Line | EDJ-KQ41817 | Human | 55277 | Details Get a Quote |
| FGG Knockout HeLa Cell Line | EDJ-KQ53232 | Human | 2266 | Details Get a Quote |
| FGG Knockout HCT 116 Cell Line | EDJ-KQ70197 | Human | 2266 | Details Get a Quote |
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