FGG
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Summary
FGG (fibrinogen gamma chain, HGNC:3694) is a protein-coding gene on chromosome 4q32.1, encoding Fibrinogen gamma chain (P02679). Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix.
The protein encoded by this gene is the gamma 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 dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms.
Source: NCBI Gene 2266 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital fibrinogen deficiency (Definitive, ClinGen) — +4 more curated relationships
- GWAS associations: 17
- Clinical variants (ClinVar): 222 total — 15 pathogenic, 16 likely-pathogenic
- Phenotypes (HPO): 29
- Druggable target: yes
- MANE Select transcript:
NM_021870
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3694 |
| Approved symbol | FGG |
| Name | fibrinogen gamma chain |
| Location | 4q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000171557 |
| Ensembl biotype | protein_coding |
| OMIM | 134850 |
| Entrez | 2266 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 6 retained_intron
ENST00000336098, ENST00000393846, ENST00000404648, ENST00000405164, ENST00000407946, ENST00000443553, ENST00000464532, ENST00000465336, ENST00000465913, ENST00000473393, ENST00000484695, ENST00000492082, ENST00000906289, ENST00000906290, ENST00000906291, ENST00000906292
RefSeq mRNA: 2 — MANE Select: NM_021870
NM_000509, NM_021870
CCDS: CCDS3788, CCDS47153
Canonical transcript exons
ENST00000336098 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001127239 | 154610067 | 154610197 |
| ENSE00001344514 | 154604171 | 154605066 |
| ENSE00001820766 | 154612532 | 154612656 |
| ENSE00003507738 | 154611805 | 154611898 |
| ENSE00003512395 | 154606705 | 154606982 |
| ENSE00003540472 | 154612391 | 154612435 |
| ENSE00003630406 | 154612018 | 154612201 |
| ENSE00003686346 | 154608466 | 154608650 |
| ENSE00003786135 | 154609630 | 154609763 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 99.93.
FANTOM5 (CAGE): breadth broad, TPM avg 171.9762 / max 93466.4246, expressed in 184 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54530 | 169.9774 | 176 |
| 54527 | 0.4976 | 21 |
| 54517 | 0.4767 | 17 |
| 54529 | 0.2766 | 13 |
| 54525 | 0.2587 | 10 |
| 54524 | 0.1042 | 7 |
| 54520 | 0.0919 | 9 |
| 54523 | 0.0901 | 12 |
| 54519 | 0.0567 | 7 |
| 54518 | 0.0554 | 6 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.93 | gold quality |
| liver | UBERON:0002107 | 99.92 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.28 | gold quality |
| decidua | UBERON:0002450 | 93.43 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.50 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.40 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.30 | gold quality |
| lower lobe of lung | UBERON:0008949 | 85.90 | silver quality |
| right adrenal gland | UBERON:0001233 | 84.00 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 83.37 | gold quality |
| gall bladder | UBERON:0002110 | 81.32 | gold quality |
| adrenal cortex | UBERON:0001235 | 81.28 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.79 | gold quality |
| upper lobe of lung | UBERON:0008948 | 80.13 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.55 | gold quality |
| adrenal gland | UBERON:0002369 | 79.40 | gold quality |
| right lung | UBERON:0002167 | 77.22 | gold quality |
| pancreas | UBERON:0001264 | 77.19 | gold quality |
| lung | UBERON:0002048 | 75.83 | gold quality |
| body of stomach | UBERON:0001161 | 75.34 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 74.74 | gold quality |
| stomach | UBERON:0000945 | 72.83 | gold quality |
| body of pancreas | UBERON:0001150 | 72.11 | gold quality |
| colonic epithelium | UBERON:0000397 | 70.06 | gold quality |
| fundus of stomach | UBERON:0001160 | 69.55 | gold quality |
| right ovary | UBERON:0002118 | 69.08 | gold quality |
| right coronary artery | UBERON:0001625 | 68.93 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 67.54 | gold quality |
| ectocervix | UBERON:0012249 | 66.32 | gold quality |
| endometrium epithelium | UBERON:0004811 | 65.02 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10553 | yes | 8120.73 |
| E-HCAD-9 | yes | 4460.36 |
| E-CURD-98 | yes | 3864.71 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MAZ, NFKB, NR3C1, PGS1, SIN3A, SP1, STAT3, USF1
miRNA regulators (miRDB)
23 targeting FGG, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-144-5P | 97.66 | 69.90 | 531 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-4714-5P | 97.04 | 67.76 | 955 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
| HSA-MIR-3914 | 94.91 | 65.77 | 643 |
Literature-anchored findings (GeneRIF, showing 40)
- review of details of the structure, binding interactions, and function of each of the fibrinogen chains, FGA, FGB, FGG (PMID:12617173)
- Rates of fibrinopeptide B release from gammaA/gamma’ fibrinogen were low & associated with delayed lateral aggregation of protofibrils. GammaA/gamma’ clots consisted of small-diameter fibers & high numbers of branch points. (PMID:12663453)
- Fibrinogen gamma chain functions. Review. (PMID:12871494)
- fibrinogen gamma has a role in stat3 transactivation via IL-6 response elements (PMID:12900415)
- the C-terminal sequences of the beta and gamma chains of fibrinogen have roles in fibrin polymerization as well as in cell attachment (PMID:14691567)
- substitution of Asn308 with a hydrophobic residue altered neither polymer formation nor polymer structure at physiologic calcium concentrations, whereas substitution with lysine altered both. (PMID:14764520)
- Review. Genetic and environmental factors alter fibrin structure and function. This has implications for the clinical presentation of vascular disease. (PMID:15217804)
- in congenital afibrinogenemia, the FGG Arg134Xaa codon, which is encoded by adjacent exons (TG-intron 4-A) affected neither mRNA splicing nor stability, but led to the production of an unstable, severely truncated fibrinogen gamma (PMID:15284111)
- an amino acid substitution of gamma 275Arg alone disrupts D:D interactions in thrombin-catalyzed fibrin polymerization and the formation of fibrin bundles and fibrin clots (PMID:15304042)
- Tissue plasminogen activator binding to all variant fibrins was weaker than binding to normal fibrin: 2.5-fold for gamma K321A, seven-fold for gamma D320A and 10-fold for gamma D316A and gamma D318A. (PMID:15311153)
- gamma289 is an important determinant of plasma fibrinogen levels (PMID:15583736)
- T>C transition in exon 9 resulting in a serine-to-proline substitution near the gamma chain C-terminus (S378P) is associated with fibrinogen Philadelphia (PMID:15632207)
- The central domain of the fibrinogen gamma-chain contains a novel integrin alpha M beta 2-binding sequence, which is localized within the gamma chain 228-253 region. (PMID:15641787)
- the basal expression of gamma-fibrinogen is regulated by a constitutive transcriptional repressor protein, hnRNP A1, and the decreased binding activity of hnRNP A1 leads to the overexpression of gamma chain in HepG2 cells that overexpress the Bbeta chain (PMID:15671034)
- data indicate that human Fibrinogen bound to Streptococcus pyogenes M5 protein promotes phagocytosis resistance by inhibiting complement deposition via the classical pathway (PMID:15773976)
- the engagement of alphaIIb beta3 by the C-terminal sequence of the fibrinogen gamma-chain initiates signals that suppress subsequent fibronectin assembly by spread platelets (PMID:16051597)
- analysis of gammaAsn319, Asp320 deletion variant fibrinogen (PMID:16113784)
- Current analysis of fibrinogen Bratislava indicates that the domains important for the processes of hexamer assembly and hexamer secretion should not be considered as strictly restricted to one or other fibrinogen chain. (PMID:16141000)
- Fibrinogen gamma’ contains a unique high-affinity, nonsubstrate binding site for thrombin, which seems critical for the expression of the antithrombin activity (PMID:16144795)
- Results identify the gamma370-381 sequence of fibrin(ogen) as the binding site for alpha(IIb)beta3 involved in platelet adhesion and clot retraction and define the new recognition specificity of this integrin. (PMID:16363805)
- Haplotypes of the fibrinogen gamma gene do not affect the risk of myocardial infarction. (PMID:16420584)
- there are tissue-specific differences in IL-6-receptor-gp130-coupled signaling which limit the extent of Stat3 activation and gammaFBG expression during lung inflammation (PMID:16524883)
- The degree of lateral aggregation of protofibrils into fibrin fibers was slightly reduced for gamma387Arg and Ala, and moderately reduced for gamma387Leu and Met. (PMID:16705085)
- Flow induced alpha2beta1 activation in cells on collagen, but not on fibronectin or fibrinogen. Conversely, alpha5beta1 and alphavbeta3 are activated on fibronectin and fibrinogen, but not collagen. (PMID:16928957)
- Both desA-fibrin with exposed A-knobs and desB-fibrin bearing B-knobs interacted with fragment D from the gammaD364H fibrinogen containing b-holes but no functional a-holes. (PMID:16940416)
- Fibrinogen gamma C & its truncation mutant ( gamma C399tr), with a deletion of the COOH-terminal 12 residues, induced apoptosis of endothelial cells. The EC-binding determinant is cryptic in native fibrinogen but exposed in gamma C & gamma C399tr. (PMID:17018627)
- it is proposed that the 10034C>T change is the functional variation in FGG-H2 that is responsible for the reduction in the fibrinogen gamma’/total fibrinogen ratio and the increased deep-venous thrombosis risk (PMID:17403086)
- homozygosity for the FGG 10034 TT genotype yielded an odds ratio of 2.01, confirming the primary finding that the FGG 10034C>T polymorphism is associated with DVT risk (PMID:17445871)
- These results indicate that expression of the gamma-fibrinogen gene is mainly controlled by the strength of late phase STAT3 activation, which in turn is negatively regulated by the extent of interleukin-1beta-mediated NF-kappaB activity. (PMID:17543500)
- These findings suggest that the CSF level of fibrinogen gamma-A chain precursor may be a candidate biomarker for AD. (PMID:17565664)
- The A alpha and B beta chains of fibrinogen, but not the gamma chains, are specifically recognized by Treponema denticola ATCC 35405. (PMID:17591786)
- the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and co-segregating with three genetic thrombophilia risk factors (PMID:17650452)
- The peptides GPRPam and GPRPYam, which are surrogate A-knobs, were tested for their influence on fibrin polymerization with fibrinogen from lamprey and humans. (PMID:17688324)
- Identify fibrinogen gamma mutations in patients evaluated for hypofibrinogenemia. (PMID:17849064)
- identification of a novel transvertion within FGG intron 6 (IVS6-320A–>T); in-frame inclusion of a 75-bp pseudo-exon carrying a premature stop was found, representing the first report of pseudo-exon activation as a mechanism leading to afibrinogenaemia (PMID:17854317)
- the molecular defect in fibrinogen Angers results in an impaired assembly and causes defective secretion and hepatic storage of fibrinogen [case report] (PMID:17883696)
- fibrinogen Leipzig II (gamma351Gly–>Ser and gamma82Ala–>Gly) may have a role in two different molecular defects in the same polypeptide chain, the hypodysfibrinogemaemia phenotype [case report] (PMID:17938819)
- RNAi-mediated knockdown of FGG expression indicated that endogenously synthesized fibrinogen promotes the growth of lung and prostate cancer cells through interaction with FGF-2. (PMID:17949478)
- Results provide evidence for an association of common variation in the FGG and FGA genes with cerebral SVD. (PMID:17951283)
- an IL-6-inducible STAT3 and CDK9 binding to the proximal gamma-FBG promoter as well as increased loading of RNA Pol II (PMID:17956865)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fgg | ENSDARG00000037281 |
| mus_musculus | Fgg | ENSMUSG00000033860 |
| rattus_norvegicus | Fgg | ENSRNOG00000025074 |
Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL6 (ENSG00000130812), ANGPTL3 (ENSG00000132855), ANGPTL2 (ENSG00000136859), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), MFAP4 (ENSG00000166482), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)
Protein
Protein identifiers
Fibrinogen gamma chain — P02679 (reviewed: P02679)
All UniProt accessions (6): P02679, A0A140VJJ6, C9JC84, C9JEU5, C9JPQ9, C9JU00
UniProt curated annotations — full annotation on UniProt →
Function. Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.
Subunit / interactions. Heterohexamer; disulfide linked. Contains 2 sets of 3 non-identical chains (alpha, beta and gamma). The 2 heterotrimers are in head to head conformation with the N-termini in a small central domain.
Subcellular location. Secreted.
Tissue specificity. Detected in blood plasma (at protein level).
Post-translational modifications. Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers. Sulfation of C-terminal tyrosines increases affinity for thrombin.
Disease relevance. Congenital afibrinogenemia (CAFBN) [MIM:202400] Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. The disease is caused by variants affecting the gene represented in this entry. Patients with congenital fibrinogen abnormalities can manifest different clinical pictures. Some cases are clinically silent, some show a tendency toward bleeding and some show a predisposition for thrombosis with or without bleeding. Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia). The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. A long coiled coil structure formed by 3 polypeptide chains connects the central nodule to the C-terminal domains (distal nodules). The long C-terminal ends of the alpha chains fold back, contributing a fourth strand to the coiled coil structure.
Miscellaneous. The gamma-chain carries the main binding site for the platelet receptor. Present in about 10% of the fibrinogen molecules in plasma but absent from those in the platelets.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P02679-1 | Gamma-B, Gamma' | yes |
| P02679-2 | Gamma-A |
RefSeq proteins (2): NP_000500, NP_068656* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002181 | Fibrinogen_a/b/g_C_dom | Domain |
| IPR012290 | Fibrinogen_a/b/g_coil_dom | Domain |
| IPR014716 | Fibrinogen_a/b/g_C_1 | Homologous_superfamily |
| IPR020837 | Fibrinogen_CS | Conserved_site |
| IPR036056 | Fibrinogen-like_C | Homologous_superfamily |
| IPR037579 | FIB_ANG-like | Family |
Pfam: PF00147, PF08702
UniProt features (106 total): strand 30, sequence variant 24, helix 13, disulfide bond 8, turn 6, binding site 4, site 3, modified residue 3, region of interest 3, sequence conflict 3, glycosylation site 2, cross-link 2, signal peptide 1, chain 1, domain 1, splice variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
47 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9KHB | X-RAY DIFFRACTION | 1.03 |
| 9KHC | X-RAY DIFFRACTION | 1.32 |
| 2Y7L | X-RAY DIFFRACTION | 1.49 |
| 1DUG | X-RAY DIFFRACTION | 1.8 |
| 4B60 | X-RAY DIFFRACTION | 1.83 |
| 2VR3 | X-RAY DIFFRACTION | 1.95 |
| 2FIB | X-RAY DIFFRACTION | 2.01 |
| 1FIB | X-RAY DIFFRACTION | 2.1 |
| 1FID | X-RAY DIFFRACTION | 2.1 |
| 3FIB | X-RAY DIFFRACTION | 2.1 |
| 1FZC | X-RAY DIFFRACTION | 2.3 |
| 3E1I | X-RAY DIFFRACTION | 2.3 |
| 2HWL | X-RAY DIFFRACTION | 2.4 |
| 2OYH | X-RAY DIFFRACTION | 2.4 |
| 2VDR | X-RAY DIFFRACTION | 2.4 |
| 1RE3 | X-RAY DIFFRACTION | 2.45 |
| 1FIC | X-RAY DIFFRACTION | 2.5 |
| 1FZG | X-RAY DIFFRACTION | 2.5 |
| 2VDO | X-RAY DIFFRACTION | 2.51 |
| 1RF1 | X-RAY DIFFRACTION | 2.53 |
| 2VDQ | X-RAY DIFFRACTION | 2.59 |
| 2HLO | X-RAY DIFFRACTION | 2.6 |
| 3BVH | X-RAY DIFFRACTION | 2.6 |
| 1FZF | X-RAY DIFFRACTION | 2.7 |
| 1RE4 | X-RAY DIFFRACTION | 2.7 |
| 2H43 | X-RAY DIFFRACTION | 2.7 |
| 2OYI | X-RAY DIFFRACTION | 2.7 |
| 2Z4E | X-RAY DIFFRACTION | 2.7 |
| 1LT9 | X-RAY DIFFRACTION | 2.8 |
| 1LTJ | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P02679-F1 | 85.60 | 0.67 |
Antibody-complex structures (SAbDab): 4 — 2VDO, 2VDP, 2VDQ, 2VDR
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 84–85 (cleavage; by plasmin; to break down fibrin clots); 88–89 (cleavage; by plasmin; to break down fibrin clots); 102–103 (cleavage; by hementin; to prevent blood coagulation)
Ligand- & substrate-binding residues (4): 350; 344; 346; 348
Post-translational modifications (5): 68, 444, 448, 424, 432
Disulfide bonds (8): 34, 35, 45, 49, 161, 165, 179–208, 352–365
Glycosylation sites (2): 78, 334
Function
Pathways and Gene Ontology
Reactome pathways
22 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-1236974 | ER-Phagosome pathway |
| R-HSA-166058 | MyD88:MAL(TIRAP) cascade initiated on plasma membrane |
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-354192 | Integrin signaling |
| R-HSA-354194 | GRB2:SOS provides linkage to MAPK signaling for Integrins |
| R-HSA-372708 | p130Cas linkage to MAPK signaling for integrins |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-5602498 | MyD88 deficiency (TLR2/4) |
| R-HSA-5603041 | IRAK4 deficiency (TLR2/4) |
| R-HSA-5674135 | MAP2K and MAPK activation |
| R-HSA-5686938 | Regulation of TLR by endogenous ligand |
| R-HSA-6802946 | Signaling by moderate kinase activity BRAF mutants |
| R-HSA-6802948 | Signaling by high-kinase activity BRAF mutants |
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions |
| R-HSA-6802955 | Paradoxical activation of RAF signaling by kinase inactive BRAF |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-9649948 | Signaling downstream of RAS mutants |
| R-HSA-9656223 | Signaling by RAF1 mutants |
| R-HSA-9769733 | Fibrin formation |
| R-HSA-9936686 | Aggregated β-amyloid interacts with fibrinogen |
| R-HSA-140875 |
MSigDB gene sets: 349 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_PROTEIN_ACTIVATION_CASCADE, REACTOME_INNATE_IMMUNE_SYSTEM, chr4q32, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_CIRCULATORY_SYSTEM_PROCESS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, GOBP_REGULATION_OF_COAGULATION, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_REGULATION_OF_HETEROTYPIC_CELL_CELL_ADHESION, GOBP_PLATELET_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION
GO Biological Process (21): cell-matrix adhesion (GO:0007160), protein secretion (GO:0009306), plasminogen activation (GO:0031639), positive regulation of heterotypic cell-cell adhesion (GO:0034116), fibrinolysis (GO:0042730), positive regulation of vasoconstriction (GO:0045907), positive regulation of exocytosis (GO:0045921), positive regulation of protein secretion (GO:0050714), protein polymerization (GO:0051258), response to calcium ion (GO:0051592), protein-containing complex assembly (GO:0065003), positive regulation of ERK1 and ERK2 cascade (GO:0070374), platelet aggregation (GO:0070527), blood coagulation, fibrin clot formation (GO:0072378), positive regulation of peptide hormone secretion (GO:0090277), positive regulation of substrate adhesion-dependent cell spreading (GO:1900026), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), negative regulation of endothelial cell apoptotic process (GO:2000352), blood coagulation (GO:0007596), hemostasis (GO:0007599), platelet activation (GO:0030168)
GO Molecular Function (6): signaling receptor binding (GO:0005102), structural molecule activity (GO:0005198), extracellular matrix structural constituent (GO:0005201), metal ion binding (GO:0046872), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)
GO Cellular Component (12): extracellular region (GO:0005576), fibrinogen complex (GO:0005577), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), extracellular matrix (GO:0031012), platelet alpha granule (GO:0031091), platelet alpha granule lumen (GO:0031093), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)
Reactome top-level categories
Rollup of top-17 pathways:
| Category | Pathways |
|---|---|
| Oncogenic MAPK signaling | 5 |
| Integrin signaling | 2 |
| Diseases associated with the TLR signaling cascade | 2 |
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Antigen processing-Cross presentation | 1 |
| Toll Like Receptor 4 (TLR4) Cascade | 1 |
| Toll Like Receptor TLR1:TLR2 Cascade | 1 |
| Toll Like Receptor TLR6:TLR2 Cascade | 1 |
| Extracellular matrix organization | 1 |
| Signal Transduction | 1 |
| Platelet Aggregation (Plug Formation) | 1 |
| Metabolism of proteins | 1 |
| RAF/MAP kinase cascade | 1 |
| Toll-like Receptor Cascades | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| positive regulation of secretion by cell | 2 |
| protein binding | 2 |
| cell-substrate adhesion | 1 |
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| zymogen activation | 1 |
| positive regulation of cell-cell adhesion | 1 |
| heterotypic cell-cell adhesion | 1 |
| regulation of heterotypic cell-cell adhesion | 1 |
| negative regulation of blood coagulation | 1 |
| regulation of vasoconstriction | 1 |
| vasoconstriction | 1 |
| positive regulation of multicellular organismal process | 1 |
| exocytosis | 1 |
| regulation of exocytosis | 1 |
| protein secretion | 1 |
| regulation of protein secretion | 1 |
| positive regulation of protein transport | 1 |
| protein-containing complex assembly | 1 |
| response to metal ion | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| positive regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| platelet activation | 1 |
| homotypic cell-cell adhesion | 1 |
| blood coagulation | 1 |
| protein activation cascade | 1 |
| positive regulation of peptide secretion | 1 |
| peptide hormone secretion | 1 |
| positive regulation of hormone secretion | 1 |
| regulation of peptide hormone secretion | 1 |
| positive regulation of cell-substrate adhesion | 1 |
| substrate adhesion-dependent cell spreading | 1 |
| regulation of substrate adhesion-dependent cell spreading | 1 |
| extrinsic apoptotic signaling pathway via death domain receptors | 1 |
Protein interactions and networks
STRING
1788 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGG | FGA | P02671 | 941 |
| FGG | FGB | P02675 | 937 |
| FGG | FN1 | P02751 | 859 |
| FGG | SERPIND1 | P05546 | 855 |
| FGG | F2 | P00734 | 821 |
| FGG | HRG | P04196 | 815 |
| FGG | HABP2 | Q14520 | 799 |
| FGG | VWF | P04275 | 780 |
| FGG | APOA4 | P06727 | 768 |
| FGG | AHSG | P02765 | 730 |
| FGG | A2M | P01023 | 724 |
| FGG | F13A1 | P00488 | 681 |
| FGG | PLG | P00747 | 674 |
| FGG | APOE | P02649 | 671 |
| FGG | KNG1 | P01042 | 667 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FGA | FGB | psi-mi:“MI:0915”(physical association) | 0.850 |
| FGA | FGB | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| MAPK6 | HERC2 | psi-mi:“MI:0914”(association) | 0.840 |
| FGG | ITGB3 | psi-mi:“MI:0915”(physical association) | 0.660 |
| WIPI2 | BNIP3L | psi-mi:“MI:0914”(association) | 0.640 |
| Itga5 | FGG | psi-mi:“MI:0915”(physical association) | 0.590 |
| FGG | Itga5 | psi-mi:“MI:0915”(physical association) | 0.590 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| CA8 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| FGG | KDM1A | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| GNG10 | GNAS | psi-mi:“MI:0914”(association) | 0.530 |
| FGG | gapA | psi-mi:“MI:0915”(physical association) | 0.520 |
| FGG | HSPD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD5L | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (126): FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), CHD9 (Co-fractionation), FGG (Co-fractionation), FGG (Affinity Capture-MS), FGG (Co-localization), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS), FGG (Affinity Capture-MS)
ESM2 similar proteins: A0A8J8, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O77802, O95841, P02675, P02676, P02678, P02679, P02680, P04115, P12799, P12804, P14480, P17634, P21758, P30204, P86239, Q02020, Q08830, Q0P4P2, Q14314, Q15389, Q1RMR1, Q29RY7, Q3SZZ7, Q5EA66, Q5M8C6, Q5XK91, Q60FC1, Q640P2, Q6AX44, Q71KU9, Q86XS5, Q8K0E8
Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821
SIGNOR signaling
10 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FGG | “down-regulates activity” | VWF | binding |
| FGG | “down-regulates activity” | VTN | binding |
| FGG | “down-regulates activity” | FN1 | binding |
| “AIIB/b3 integrin” | “up-regulates activity” | FGG | binding |
| FGG | up-regulates | Platelet_aggregation | |
| FGG | “form complex” | Fibrinogen | binding |
| MMP13 | “down-regulates quantity by destabilization” | FGG | cleavage |
| MMP14 | “down-regulates quantity by destabilization” | FGG | cleavage |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Platelet degranulation | 7 | 8.5× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
222 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 15 |
| Likely pathogenic | 16 |
| Uncertain significance | 110 |
| Likely benign | 36 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1299531 | NM_021870.3(FGG):c.207_208dup (p.Glu70fs) | Pathogenic |
| 16377 | NM_021870.3(FGG):c.307+5G>A | Pathogenic |
| 16380 | NM_021870.3(FGG):c.667-320A>T | Pathogenic |
| 2572634 | NM_021870.3(FGG):c.1201C>T (p.Arg401Trp) | Pathogenic |
| 2683325 | NM_021870.3(FGG):c.901C>A (p.Arg301Ser) | Pathogenic |
| 2691431 | NC_000004.11:g.(?155525322)(155533809_?)del | Pathogenic |
| 3380989 | NM_021870.3(FGG):c.1024G>A (p.Asp342Asn) | Pathogenic |
| 3380990 | NM_021870.3(FGG):c.997C>T (p.His333Tyr) | Pathogenic |
| 3381927 | NM_021870.3(FGG):c.124-2A>G | Pathogenic |
| 4541012 | NM_021870.3(FGG):c.1054T>A (p.Cys352Ser) | Pathogenic |
| 4747417 | NM_021870.3(FGG):c.637del (p.Ser213fs) | Pathogenic |
| 4747418 | NM_021870.3(FGG):c.400C>T (p.Arg134Ter) | Pathogenic |
| 504885 | NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) | Pathogenic |
| 626954 | NM_021870.3(FGG):c.331A>T (p.Lys111Ter) | Pathogenic |
| 800570 | NM_021870.3(FGG):c.666+23T>A | Pathogenic |
| 16376 | NM_021870.3(FGG):c.78+5G>A | Likely pathogenic |
| 1705951 | NM_021870.3(FGG):c.1019C>T (p.Thr340Ile) | Likely pathogenic |
| 2664006 | NM_021870.3(FGG):c.1067A>G (p.Asp356Gly) | Likely pathogenic |
| 2664730 | NM_021870.3(FGG):c.1030G>C (p.Asp344His) | Likely pathogenic |
| 2683318 | NM_021870.3(FGG):c.1172A>T (p.Asn391Ile) | Likely pathogenic |
| 3251653 | NM_021870.3(FGG):c.1037A>G (p.Asp346Gly) | Likely pathogenic |
| 3257729 | NM_021870.3(FGG):c.1242del (p.Phe415fs) | Likely pathogenic |
| 3346433 | NM_021870.3(FGG):c.1015A>C (p.Ser339Arg) | Likely pathogenic |
| 3366970 | NM_021870.3(FGG):c.1006A>T (p.Met336Leu) | Likely pathogenic |
| 3391442 | NM_021870.3(FGG):c.667-1G>T | Likely pathogenic |
| 4278256 | NM_021870.3(FGG):c.1140C>A (p.Tyr380Ter) | Likely pathogenic |
| 4813762 | NM_021870.3(FGG):c.926del (p.Gly309fs) | Likely pathogenic |
| 4847282 | NM_021870.3(FGG):c.1055G>C (p.Cys352Ser) | Likely pathogenic |
| 521192 | NM_021870.3(FGG):c.1030G>A (p.Asp344Asn) | Likely pathogenic |
| 627163 | NM_021870.3(FGG):c.963del (p.Phe321fs) | Likely pathogenic |
SpliceAI
954 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:154606983:C:CC | acceptor_gain | 1.0000 |
| 4:154608649:CT:C | acceptor_gain | 1.0000 |
| 4:154608660:CATT:C | acceptor_gain | 1.0000 |
| 4:154608661:A:C | acceptor_gain | 1.0000 |
| 4:154608663:T:C | acceptor_gain | 1.0000 |
| 4:154608663:T:TC | acceptor_gain | 1.0000 |
| 4:154608667:A:T | acceptor_gain | 1.0000 |
| 4:154610198:C:CC | acceptor_gain | 1.0000 |
| 4:154611801:TTACC:T | donor_loss | 1.0000 |
| 4:154611802:TACCG:T | donor_loss | 1.0000 |
| 4:154611803:A:AC | donor_gain | 1.0000 |
| 4:154611803:ACC:A | donor_loss | 1.0000 |
| 4:154611804:C:CG | donor_gain | 1.0000 |
| 4:154611804:CCGA:C | donor_gain | 1.0000 |
| 4:154611804:CCGAA:C | donor_gain | 1.0000 |
| 4:154611894:CATAT:C | acceptor_gain | 1.0000 |
| 4:154611896:TAT:T | acceptor_gain | 1.0000 |
| 4:154611899:C:CC | acceptor_gain | 1.0000 |
| 4:154611899:CTGTA:C | acceptor_loss | 1.0000 |
| 4:154611900:T:G | acceptor_loss | 1.0000 |
| 4:154611906:A:C | acceptor_gain | 1.0000 |
| 4:154612016:A:AC | donor_gain | 1.0000 |
| 4:154612017:C:CC | donor_gain | 1.0000 |
| 4:154612197:CTACC:C | acceptor_gain | 1.0000 |
| 4:154612383:CTACT:C | donor_loss | 1.0000 |
| 4:154612384:TACTT:T | donor_loss | 1.0000 |
| 4:154612385:ACTTA:A | donor_loss | 1.0000 |
| 4:154612386:C:CG | donor_loss | 1.0000 |
| 4:154612388:T:TG | donor_loss | 1.0000 |
| 4:154612389:A:AC | donor_gain | 1.0000 |
AlphaMissense
3015 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:154605011:C:A | W395C | 0.999 |
| 4:154605011:C:G | W395C | 0.999 |
| 4:154605013:A:G | W395R | 0.999 |
| 4:154605013:A:T | W395R | 0.999 |
| 4:154606740:C:G | C365S | 0.999 |
| 4:154606741:A:G | C365R | 0.999 |
| 4:154606741:A:T | C365S | 0.999 |
| 4:154606751:C:A | W361C | 0.999 |
| 4:154606751:C:G | W361C | 0.999 |
| 4:154606753:A:G | W361R | 0.999 |
| 4:154606753:A:T | W361R | 0.999 |
| 4:154606756:A:G | W360R | 0.999 |
| 4:154606756:A:T | W360R | 0.999 |
| 4:154606778:A:C | C352W | 0.999 |
| 4:154606779:C:A | C352F | 0.999 |
| 4:154606779:C:G | C352S | 0.999 |
| 4:154606779:C:T | C352Y | 0.999 |
| 4:154606780:A:T | C352S | 0.999 |
| 4:154606817:A:C | S339R | 0.999 |
| 4:154606817:A:T | S339R | 0.999 |
| 4:154606819:T:G | S339R | 0.999 |
| 4:154606740:C:A | C365F | 0.998 |
| 4:154606740:C:T | C365Y | 0.998 |
| 4:154606754:C:A | W360C | 0.998 |
| 4:154606754:C:G | W360C | 0.998 |
| 4:154606780:A:G | C352R | 0.998 |
| 4:154606820:G:C | F338L | 0.998 |
| 4:154606820:G:T | F338L | 0.998 |
| 4:154606821:A:G | F338S | 0.998 |
| 4:154606822:A:G | F338L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000205374 (4:154614011 A>G), RS1000515445 (4:154613164 C>A,T), RS1000696451 (4:154609216 G>A,C), RS1000720733 (4:154614275 G>A,T), RS1001033245 (4:154613496 T>C), RS1001545467 (4:154607553 A>G), RS1001661481 (4:154607858 T>C), RS1001923647 (4:154607321 G>A), RS1002974266 (4:154608799 T>C), RS1003332583 (4:154608952 T>C), RS1003553436 (4:154610975 C>A,T), RS1003666369 (4:154611438 C>A), RS1004104250 (4:154603819 G>C), RS1004481852 (4:154609002 C>A,T), RS1004506577 (4:154610100 C>T)
Disease associations
OMIM: gene MIM:134850 | disease phenotypes: MIM:202400, MIM:616004, MIM:182601
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| thrombophilia | Strong | Autosomal dominant |
| congenital afibrinogenemia | Strong | Autosomal recessive |
| familial dysfibrinogenemia | Strong | Autosomal dominant |
| congenital fibrinogen deficiency | Strong | Semidominant |
| familial hypofibrinogenemia | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital fibrinogen deficiency | Definitive | SD |
Mondo (7): congenital afibrinogenemia (MONDO:0008737), familial dysfibrinogenemia (MONDO:0014452), hereditary spastic paraplegia 4 (MONDO:0008438), thrombocytopenia (MONDO:0002049), congenital fibrinogen deficiency (MONDO:0018060), thrombophilia (MONDO:0002305), familial hypofibrinogenemia (MONDO:0015096)
Orphanet (5): Congenital fibrinogen deficiency (Orphanet:335), Familial afibrinogenemia (Orphanet:98880), Familial dysfibrinogenemia (Orphanet:98881), Immunodeficiency with factor I anomaly (Orphanet:200418), Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
HPO phenotypes
29 total (29 of 29 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000225 | Gingival bleeding |
| HP:0000421 | Epistaxis |
| HP:0000978 | Bruising susceptibility |
| HP:0001342 | Cerebral hemorrhage |
| HP:0001386 | Joint swelling |
| HP:0001522 | Death in infancy |
| HP:0001892 | Abnormal bleeding |
| HP:0001934 | Persistent bleeding after trauma |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002248 | Hematemesis |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003811 | Neonatal death |
| HP:0003819 | Death in childhood |
| HP:0004936 | Venous thrombosis |
| HP:0005268 | Miscarriage |
| HP:0006298 | Prolonged bleeding after dental extraction |
| HP:0011421 | Death in adolescence |
| HP:0011463 | Childhood onset |
| HP:0011884 | Abnormal umbilical stump bleeding |
| HP:0011900 | Hypofibrinogenemia |
| HP:0012223 | Splenic rupture |
| HP:0030137 | Prolonged bleeding following circumcision |
| HP:0034287 | Afibrinogenemia |
| HP:0100309 | Subdural hemorrhage |
| HP:0100310 | Epidural hemorrhage |
| HP:0400008 | Menometrorrhagia |
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000368_6 | Fibrinogen | 8.000000e-39 |
| GCST001049_6 | D-dimer levels | 3.000000e-18 |
| GCST001158_1 | Fibrinogen | 1.000000e-109 |
| GCST001253_2 | Venous thromboembolism | 2.000000e-13 |
| GCST002012_4 | Venous thromboembolism | 2.000000e-13 |
| GCST002808_6 | Venous thromboembolism | 1.000000e-16 |
| GCST003194_38 | Fibrinogen levels | 1.000000e-87 |
| GCST003194_39 | Fibrinogen levels | 2.000000e-76 |
| GCST003390_3 | Thrombosis | 2.000000e-19 |
| GCST004256_2 | Venous thromboembolism | 3.000000e-11 |
| GCST006017_3 | Prothrombin time | 2.000000e-20 |
| GCST006018_1 | Activated partial thromboplastin time | 4.000000e-16 |
| GCST006585_866 | Blood protein levels | 8.000000e-06 |
| GCST007638_29 | Glycine levels | 2.000000e-10 |
| GCST009030_2 | Venous thromboembolism | 2.000000e-59 |
| GCST009097_2 | Venous thromboembolism | 2.000000e-88 |
| GCST012523_3 | Venous thromboembolism | 5.000000e-24 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004507 | D dimer measurement |
| EFO:0003907 | deep vein thrombosis |
| EFO:0008390 | prothrombin time measurement |
| EFO:0009767 | glycine measurement |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000347 | Afibrinogenemia | C15.378.100.100.056; C15.378.100.141.072; C15.378.463.067; C16.320.099.056 |
| D013921 | Thrombocytopenia | C15.378.140.855; C15.378.243.937 |
| D019851 | Thrombophilia | C15.378.925 |
| C536865 | Spastic paraplegia 4, autosomal dominant (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2364709 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2066865 | FGG | 0.00 | 0 | ||
| rs1800792 | FGG | 0.00 | 0 |
CTD chemical–gene interactions
77 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, decreases expression, increases methylation, affects cotreatment | 7 |
| Ethinyl Estradiol | affects binding, affects cotreatment, increases expression | 5 |
| ethinyl estradiol-desogestrel combination | affects binding, increases expression | 4 |
| Valproic Acid | decreases methylation, affects expression, decreases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Gestodene | affects binding, affects cotreatment, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Fluorouracil | affects response to substance, decreases expression | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Snake Venoms | increases cleavage, affects binding | 2 |
| Levonorgestrel | affects binding, affects cotreatment, increases expression | 2 |
| Vitamin K 3 | affects expression, increases expression | 2 |
| abemaciclib | decreases expression | 1 |
| perfluorodecanesulfonic acid | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| benzo(b)fluoranthene | affects cotreatment, affects expression | 1 |
| bisphenol A | affects expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| norgestimate | affects binding, affects cotreatment, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | decreases expression | 1 |
Clinical trials (associated diseases)
289 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01214772 | PHASE4 | COMPLETED | The Effect of Heparin in Treatment IVF-ET Failure |
| NCT03531437 | PHASE4 | TERMINATED | Comparison of Coagulation Profiles Between Zoely and Minidoz: RCT |
| NCT02822599 | PHASE4 | COMPLETED | Human Fibrinogen Concentrate in Pediatric Cardiac Surgery |
| NCT00039858 | PHASE4 | COMPLETED | Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin |
| NCT00239733 | PHASE4 | TERMINATED | Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection |
| NCT00907478 | PHASE4 | COMPLETED | Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP) |
| NCT01727401 | PHASE4 | TERMINATED | Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia |
| NCT02032134 | PHASE4 | TERMINATED | Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia |
| NCT02267993 | PHASE4 | COMPLETED | Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients |
| NCT03633019 | PHASE4 | UNKNOWN | High-dose Use of rhTPO in CIT Patients |
| NCT03688191 | PHASE4 | UNKNOWN | Study of Sirolimus in CTD-TP in China |
| NCT04906083 | PHASE4 | UNKNOWN | Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia |
| NCT05217719 | PHASE4 | UNKNOWN | Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients |
| NCT05255003 | PHASE4 | RECRUITING | STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis |
| NCT05382013 | PHASE4 | UNKNOWN | Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment |
| NCT05944458 | PHASE4 | COMPLETED | Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients |
| NCT06562738 | PHASE4 | RECRUITING | Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia |
| NCT00967382 | PHASE3 | COMPLETED | TIPPS: Thrombophilia in Pregnancy Prophylaxis Study |
| NCT01046942 | PHASE3 | UNKNOWN | ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery |
| NCT06153394 | PHASE3 | NOT_YET_RECRUITING | Prolonged Hypercoagulability Following Major Liver Resection for Malignancy |
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| NCT02267226 | PHASE3 | COMPLETED | Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery |
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| NCT00420914 | PHASE3 | TERMINATED | Strategies for Transfusion of Platelets (SToP) |
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Related Atlas pages
- Associated diseases: thrombophilia, congenital afibrinogenemia, familial dysfibrinogenemia, familial hypofibrinogenemia, congenital fibrinogen deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital afibrinogenemia, congenital fibrinogen deficiency, familial dysfibrinogenemia, familial hypofibrinogenemia, hereditary spastic paraplegia 4, pulmonary embolism, thrombocytopenia, thrombophilia