FGA
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Summary
FGA (fibrinogen alpha chain, HGNC:3661) is a protein-coding gene on chromosome 4q31.3, encoding Fibrinogen alpha chain (P02671). Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix.
This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing.
Source: NCBI Gene 2243 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital fibrinogen deficiency (Definitive, ClinGen) — +6 more curated relationships
- GWAS associations: 6
- Clinical variants (ClinVar): 357 total — 26 pathogenic, 25 likely-pathogenic
- Phenotypes (HPO): 43
- Druggable target: yes
- MANE Select transcript:
NM_021871
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3661 |
| Approved symbol | FGA |
| Name | fibrinogen alpha chain |
| Location | 4q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000171560 |
| Ensembl biotype | protein_coding |
| OMIM | 134820 |
| Entrez | 2243 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000403106, ENST00000651975, ENST00000911090, ENST00000911091, ENST00000951262, ENST00000951263
RefSeq mRNA: 2 — MANE Select: NM_021871
NM_000508, NM_021871
CCDS: CCDS3787, CCDS47152
Canonical transcript exons
ENST00000403106 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001127274 | 154587512 | 154587657 |
| ENSE00001127283 | 154588793 | 154588976 |
| ENSE00001127292 | 154589437 | 154589562 |
| ENSE00001551151 | 154585275 | 154586918 |
| ENSE00003844657 | 154590634 | 154590742 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.94.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 136.9775 / max 75764.7928, expressed in 172 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54494 | 135.7083 | 168 |
| 54470 | 0.2098 | 7 |
| 54469 | 0.1403 | 9 |
| 54468 | 0.1136 | 7 |
| 54464 | 0.1121 | 10 |
| 54483 | 0.1067 | 8 |
| 54487 | 0.1066 | 10 |
| 54484 | 0.0971 | 8 |
| 54488 | 0.0826 | 7 |
| 203386 | 0.0676 | 8 |
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 | 99.94 | gold quality |
| liver | UBERON:0002107 | 99.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.77 | gold quality |
| type B pancreatic cell | CL:0000169 | 87.30 | gold quality |
| body of stomach | UBERON:0001161 | 82.22 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 80.55 | silver quality |
| stomach | UBERON:0000945 | 80.42 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.94 | silver quality |
| fundus of stomach | UBERON:0001160 | 79.22 | gold quality |
| decidua | UBERON:0002450 | 79.17 | gold quality |
| pancreas | UBERON:0001264 | 79.06 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 76.60 | gold quality |
| diaphragm | UBERON:0001103 | 76.50 | gold quality |
| cerebellar vermis | UBERON:0004720 | 75.61 | gold quality |
| cardia of stomach | UBERON:0001162 | 74.32 | silver quality |
| vastus lateralis | UBERON:0001379 | 74.18 | gold quality |
| body of pancreas | UBERON:0001150 | 74.16 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.67 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 72.98 | silver quality |
| lower lobe of lung | UBERON:0008949 | 72.91 | silver quality |
| gall bladder | UBERON:0002110 | 72.79 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 71.72 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 70.21 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 69.92 | gold quality |
| right coronary artery | UBERON:0001625 | 69.32 | gold quality |
| metanephros cortex | UBERON:0010533 | 68.78 | gold quality |
| myocardium | UBERON:0002349 | 67.72 | gold quality |
| ileal mucosa | UBERON:0000331 | 67.70 | gold quality |
| right lung | UBERON:0002167 | 66.98 | gold quality |
| superficial temporal artery | UBERON:0001614 | 66.78 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130473 | yes | 16386.57 |
| E-MTAB-10137 | yes | 7992.80 |
| E-HCAD-9 | yes | 7960.63 |
| E-MTAB-10553 | yes | 4245.52 |
| E-CURD-98 | yes | 3628.48 |
| E-MTAB-7407 | yes | 1775.98 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPA, STAT3, TFCP2
miRNA regulators (miRDB)
70 targeting FGA, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
Literature-anchored findings (GeneRIF, showing 40)
- genotypes are associated with plasma fibrinogen levels in Chinese (PMID:11546832)
- The TaqI polymorphism is due to a 28bp duplication at 6587-6614. (PMID:11583334)
- The new dysfunctional fibrinogen, San Giovanni Rotondo variant, a heterozygous single-base deletion at Ala499 in the Aalpha-chain gene, predicts AA changes encoded by the rest of exon V and a premature stop at 518 (Aalpha[499]Ala frameshift stop). (PMID:11776317)
- Four novel polymorphisms in the fibrinogen Aalpha gene are described: 2 SNPs at -3 and -1051 and a dinucleotide repeat at -946 and a TaqI polymorphism. (PMID:11858505)
- Although the FGA mutation is the same in fibrinogen Rouen and fibrinogen Saint-Germain I, the latter shows a different thrombin-induced fibrinopeptide release pattern and a mild factor V deficiency. (PMID:11914657)
- Fibrinogen isoform alpha C-domain consists of a compact globular cooperative unit attached to the bulk of the molecule by an extended NH2-terminal connector region with a helical poly(L-proline) type II conformation. (PMID:12009908)
- dysfibrinogenemia caused by variation: amino acid substition in position 16 Arg-His (PMID:12193970)
- Analysis of the IVS3delGTAA mutation showed exon 3 skipping in 99% of transcripts & exons 2 & 3 skipping in 1% of transcripts. In FGA intron 3 was preferentially spliced first, followed by intron 2, intron 4, & intron 1. (PMID:12406899)
- review of details of the structure, binding interactions, and function of each of the fibrinogen chains, FGA, FGB, FGG (PMID:12617173)
- Functional analysis of the fibrinogen Aalpha Thr312Ala polymorphism: effects on fibrin structure and function. (PMID:12707238)
- newly identified nonsense mutation G4731T gives rise to a new stop codon at Aalpha-Glu 467; plasma clots from the patients were composed of very thin fibers, with increased fibrin density and reduced pore size (PMID:15166913)
- Review. Genetic and environmental factors alter fibrin structure and function. This has implications for the clinical presentation of vascular disease. (PMID:15217804)
- activated factor XIII incorporates thymosin beta(4) into the isolated gamma-module and alphaC-domain (fibrinogen A alpha); in fibrin the latter serves as the major incorporation site (PMID:15311936)
- mechanism of the alphaC domain-mediated interaction of endothelial cells with fibrin and imply its potential involvement in cell migration (PMID:15637140)
- Prepubertal obese boys exhibited impaired aerobic fitness compared with their normal weight peers irrespective of the TaqI alpha-fibrinogen genotypes that may be associated with fatness in boys. (PMID:15795809)
- results of the present study provided insufficient evidence of the existence of a major [cleft lip/palate] susceptibility locus in the 4q region (PMID:15865460)
- PAI-1 directly bound to the alpha(20-88) and thus concentrated in fibrinogen/fibrin (PMID:16210568)
- Data show that SPARC binds to plasmin-cleaved fibrinogen, but not to native fibrinogen. (PMID:16263253)
- Data indicated that functional genetic variants in FGA are risk factors for venous thromboembolism in Taiwanese populations, and determination of FGA genotypes will likely contribute to primary prevention of this condition. (PMID:16362348)
- Hereditary systemic amyloidosis comprises several autosomal dominant diseases caused by mutations in a number of plasma proteins, including the fibrinogen Aalpha-chain. (PMID:16468976)
- High plasma fibrinogen concentration was associated with non-small cell lung cancer (PMID:16698114)
- In young adults, fibrinogen multi-locus genotypes are associated with plasma fibrinogen levels (PMID:16706972)
- a significant gene-covariate interaction exists between the FXIII Val34Leu variant and fibrinogen levels (PMID:16881935)
- analysis of novel missense mutation (Aa D496N) that may have a role in hypofibrinogenaemia (PMID:16894470)
- 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)
- Thus, apo(a) may interact with intact fibrin through the Lys-independent and Lys-dependent mechanisms, while the COOH-Lys-dependent mechanism may prevail in the presence of fibrinolytic activity. (PMID:16939214)
- 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)
- Manganese and activators of the ERK pathway cooperated in HT29-D4 cell adhesion to fibrinogen. (PMID:17275949)
- the identification of 8 novel mutations, confirming the relative importance of FGA in the molecular basis of fibrinogen deficiency (PMID:17295221)
- the common -148 C/T polymorphism is associated with differences in the TNFalpha release in response to systemic LPS infusion in humans (PMID:17303222)
- Fibrinogen and fibrin modulate the activity of tPA differently in regard to their activation of plasminogen and inhibition by PAI-1 (PMID:17408411)
- The Aalpha16 Arg mutationS resulted in an impaired fibrinopeptide A release (PMID:17408725)
- REVIEW: the N-terminus of Bbeta, the C-terminus of Aalpha, and the splice variant gamma’ modulate fibrin clot structure (PMID:17414213)
- alpha-fibrinogen Thr312Ala is involved in the pathogenesis of VTE and its action may be modified by other VTE risk factors, BMI and the FXIII Val34Leu variant (PMID:17433418)
- a role of the alphaC domain in the stabilization of fibrin gel (PMID:17565234)
- The A alpha and B beta chains of fibrinogen, but not the gamma chains, are specifically recognized by Treponema denticola ATCC 35405, which may promote colonization and modulate hemostasis. (PMID:17591786)
- Fibrinogen has a role in controlling human platelet fibronectin internalization and cell-surface retention (PMID:17596138)
- Results provide the first direct evidence for the interaction between the alphaC-domains and the central E region through fibrinopeptide B, and indicate that fibrinopeptide A is also involved. (PMID:17630702)
- VWF and fibrinogen are differentially packaged in human platelets (PMID:17650077)
- 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)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | angptl2a | ENSDARG00000024030 |
| danio_rerio | ENSDARG00000116302 |
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), FGG (ENSG00000171557), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)
Protein
Protein identifiers
Fibrinogen alpha chain — P02671 (reviewed: P02671)
All UniProt accessions (1): P02671
UniProt curated annotations — full annotation on UniProt →
Function. Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin 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 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. (Microbial infection) Interacts with Staphylococcus aureus protein Fib; this interaction inhibits fibrinogen-dependent platelet aggregation and protects the bacteria form phagocytosis.
Subcellular location. Secreted.
Tissue specificity. Detected in blood plasma (at protein level).
Post-translational modifications. The alpha chain is normally not N-glycosylated, even though glycosylation at Asn-686 was observed when a fragment of the protein was expressed in insect cells. It is well known that heterologous expression of isolated domains can lead to adventitious protein modifications. Besides, glycosylation at Asn-686 is supported by large-scale glycoproteomics studies, but the evidence is still quite tenuous. Most likely, Asn-686 is not glycosylated in the healthy human body, or only with low efficiency. O-glycosylated. Forms F13A-mediated cross-links between a glutamine and the epsilon-amino group of a lysine residue, forming fibronectin-fibrinogen heteropolymers. About one-third of the alpha chains in the molecules in blood were found to be phosphorylated. 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. Phosphorylated by FAM20C in the extracellular medium.
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. The majority of cases of afibrinogenemia are due to truncating mutations. Variations in position Arg-35 (the site of cleavage of fibrinopeptide a by thrombin) leads to alpha-dysfibrinogenemias. Amyloidosis, hereditary systemic 2 (AMYLD2) [MIM:105200] A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD2 is an autosomal dominant form characterized by deposition of amyloid preferentially in the glomeruli of the kidney. It clinically presents with hypertension, proteinuria, and finally azotemia. Involvement of liver and spleen may be seen in advanced cases, but heavy glomerular deposition without significant medium sized vessel involvement is characteristic of the disease. The disease is caused by variants affecting the gene represented in this entry. 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.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P02671-1 | 1, Alpha-E | yes |
| P02671-2 | 2, Alpha |
RefSeq proteins (2): NP_000499, NP_068657* (*=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 |
| IPR021996 | Fibrinogen_aC | Domain |
| IPR036056 | Fibrinogen-like_C | Homologous_superfamily |
| IPR037579 | FIB_ANG-like | Family |
Pfam: PF00147, PF08702, PF12160
UniProt features (123 total): sequence variant 22, modified residue 16, strand 15, helix 11, turn 8, disulfide bond 8, cross-link 8, compositionally biased region 7, sequence conflict 6, binding site 4, site 4, glycosylation site 4, region of interest 3, splice variant 2, signal peptide 1, peptide 1, chain 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
39 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5CFA | X-RAY DIFFRACTION | 1.45 |
| 4F27 | X-RAY DIFFRACTION | 1.92 |
| 1FZD | X-RAY DIFFRACTION | 2.1 |
| 1BBR | X-RAY DIFFRACTION | 2.3 |
| 1FZC | X-RAY DIFFRACTION | 2.3 |
| 3E1I | X-RAY DIFFRACTION | 2.3 |
| 2OYH | X-RAY DIFFRACTION | 2.4 |
| 1RE3 | X-RAY DIFFRACTION | 2.45 |
| 1DM4 | X-RAY DIFFRACTION | 2.5 |
| 1FPH | X-RAY DIFFRACTION | 2.5 |
| 1FZG | X-RAY DIFFRACTION | 2.5 |
| 1YCP | X-RAY DIFFRACTION | 2.5 |
| 3AT0 | X-RAY DIFFRACTION | 2.5 |
| 1RF1 | X-RAY DIFFRACTION | 2.53 |
| 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 |
| 2Q9I | X-RAY DIFFRACTION | 2.8 |
| 1RF0 | X-RAY DIFFRACTION | 2.81 |
| 2FFD | X-RAY DIFFRACTION | 2.89 |
| 1FZA | X-RAY DIFFRACTION | 2.9 |
| 1FZB | X-RAY DIFFRACTION | 2.9 |
| 2HOD | X-RAY DIFFRACTION | 2.9 |
| 2HPC | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P02671-F1 | 61.58 | 0.23 |
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 (4): 35–36 (cleavage; by thrombin; to release fibrinopeptide a); 100–101 (cleavage; by plasmin; to break down fibrin clots); 121–122 (cleavage; by hementin; to prevent blood coagulation); 123–124 (cleavage; by plasmin; to break down fibrin clots)
Ligand- & substrate-binding residues (4): 791; 793; 795; 797
Post-translational modifications (24): 22, 45, 50, 56, 281, 291, 294, 364, 412, 451, 501, 505, 524, 560, 565, 609, 322, 347, 385, 527 …
Disulfide bonds (8): 47, 55, 64, 68, 180, 184, 461–491, 799–812
Glycosylation sites (4): 320, 351, 453, 686
Function
Pathways and Gene Ontology
Reactome pathways
23 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-977225 | Amyloid fiber formation |
| R-HSA-9936686 | Aggregated β-amyloid interacts with fibrinogen |
| R-HSA-140875 |
MSigDB gene sets: 424 (showing top):
GOBP_PROTEIN_ACTIVATION_CASCADE, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, 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, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE
GO Biological Process (25): adaptive immune response (GO:0002250), cell-matrix adhesion (GO:0007160), plasminogen activation (GO:0031639), positive regulation of heterotypic cell-cell adhesion (GO:0034116), fibrinolysis (GO:0042730), induction of bacterial agglutination (GO:0043152), innate immune response (GO:0045087), 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, common pathway (GO:0072377), 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), immune system process (GO:0002376), blood coagulation (GO:0007596), hemostasis (GO:0007599), platelet activation (GO:0030168)
GO Molecular Function (7): signaling receptor binding (GO:0005102), structural molecule activity (GO:0005198), extracellular matrix structural constituent (GO:0005201), protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872), protein binding (GO:0005515), cell adhesion molecule binding (GO:0050839)
GO Cellular Component (14): extracellular region (GO:0005576), fibrinogen complex (GO:0005577), obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), 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), extracellular vesicle (GO:1903561)
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 |
|---|---|
| protein binding | 3 |
| cellular anatomical structure | 3 |
| immune response | 2 |
| positive regulation of secretion by cell | 2 |
| protein activation cascade | 2 |
| extracellular region | 2 |
| cell-substrate adhesion | 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 |
| antibacterial humoral response | 1 |
| defense response to symbiont | 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, fibrin clot formation | 1 |
| blood coagulation | 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 |
Protein interactions and networks
STRING
2118 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGA | FGB | P02675 | 957 |
| FGA | FGG | P02679 | 941 |
| FGA | F2 | P00734 | 887 |
| FGA | SERPIND1 | P05546 | 847 |
| FGA | A2M | P01023 | 804 |
| FGA | SERPINC1 | P01008 | 800 |
| FGA | PLG | P00747 | 799 |
| FGA | ITGB3 | P05106 | 798 |
| FGA | HRG | P04196 | 789 |
| FGA | VWF | P04275 | 786 |
| FGA | GGACT | Q9BVM4 | 768 |
| FGA | PLAT | P00750 | 761 |
| FGA | LYZ | P00695 | 759 |
| FGA | PROS1 | P07225 | 759 |
| FGA | PF4 | P02776 | 745 |
IntAct
84 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 |
| WIPF2 | WASL | psi-mi:“MI:0914”(association) | 0.850 |
| MAPK6 | HERC2 | psi-mi:“MI:0914”(association) | 0.840 |
| FGA | FAM20C | psi-mi:“MI:0217”(phosphorylation reaction) | 0.620 |
| FAM20C | FGA | psi-mi:“MI:0217”(phosphorylation reaction) | 0.620 |
| FGA | YWHAQ | psi-mi:“MI:0915”(physical association) | 0.560 |
| FGA | psi-mi:“MI:0915”(physical association) | 0.550 | |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| FGA | APOA1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| FGA | KLK6 | psi-mi:“MI:0570”(protein cleavage) | 0.440 |
| FGA | PASK | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| MIS12 | C1 segment | 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 | |
| FGA | ADAM21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KRT18 | FGA | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGA | iglC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGA | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (125): FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Co-localization), F2 (Co-localization), FGA (Synthetic Lethality), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), FGA (Affinity Capture-MS), ITGA2B (Protein-peptide), ITGB3 (Protein-peptide), MEOX2 (Two-hybrid)
ESM2 similar proteins: A0A0D1CVX2, A0A172M4N0, A2VE23, B3A0P1, B3A0P6, B3A0Q2, B3A0Q7, D1FQ14, F1NSM7, G5EC21, H2A0M1, K9N4Q4, O19084, O36415, O46203, O55196, O84462, P02671, P02672, P04279, P24804, P34468, Q04536, Q04807, Q15517, Q1XI13, Q27002, Q5TM45, Q6AYN3, Q6E0U4, Q6GX35, Q6P253, Q6UX39, Q6UXA7, Q7TPC1, Q7YR44, Q80Y39, Q86HP9, Q8BM15, Q8K4L6
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
14 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “AIIB/b3 integrin” | “up-regulates activity” | FGA | binding |
| FGA | up-regulates | ITGAX | binding |
| FGA | up-regulates | Platelet_aggregation | |
| FGA | “form complex” | Fibrinogen | binding |
| MMP13 | “down-regulates quantity by destabilization” | FGA | cleavage |
| MMP14 | “down-regulates quantity by destabilization” | FGA | cleavage |
| MMP12 | “down-regulates quantity by destabilization” | FGA | cleavage |
| MMP8 | “down-regulates quantity by destabilization” | FGA | cleavage |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 85 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 |
|---|---|---|---|
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 7 | 10.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
357 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 26 |
| Likely pathogenic | 25 |
| Uncertain significance | 222 |
| Likely benign | 21 |
| Benign | 18 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1098473 | NM_000508.5(FGA):c.2155del (p.Gln719fs) | Pathogenic |
| 1175169 | NM_021871.4(FGA):c.1001G>A (p.Trp334Ter) | Pathogenic |
| 16404 | NM_021871.4(FGA):c.104G>A (p.Arg35His) | Pathogenic |
| 16409 | NM_021871.4(FGA):c.1622del (p.Val541fs) | Pathogenic |
| 16412 | NM_000508.3(FGA):c.116T>A (p.Val39Asp) | Pathogenic |
| 16413 | NM_021871.4(FGA):c.1629del (p.Thr544fs) | Pathogenic |
| 16414 | NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del | Pathogenic |
| 16417 | NM_021871.4(FGA):c.711dup (p.Lys238Ter) | Pathogenic |
| 1677441 | NM_021871.4(FGA):c.718C>T (p.Gln240Ter) | Pathogenic |
| 1696375 | NM_021871.4(FGA):c.448C>T (p.Gln150Ter) | Pathogenic |
| 1879618 | NM_021871.4(FGA):c.1670_1673del (p.Thr557fs) | Pathogenic |
| 2506047 | NC_000004.11:g.(?155506411)(155510715_155511785)del | Pathogenic |
| 2632481 | NM_021871.4(FGA):c.1483_1495del (p.Met495fs) | Pathogenic |
| 2683312 | NM_021871.4(FGA):c.163T>C (p.Cys55Arg) | Pathogenic |
| 2691433 | NC_000004.11:g.(?155506426)(155511895_?)del | Pathogenic |
| 3356488 | NM_021871.4(FGA):c.1541del (p.Pro514fs) | Pathogenic |
| 3380988 | NM_021871.4(FGA):c.1037del (p.Asn346fs) | Pathogenic |
| 3544392 | NM_021871.4(FGA):c.180G>A (p.Trp60Ter) | Pathogenic |
| 3896539 | NC_000004.11:g.(?155506426)(155510715_155511785)del | Pathogenic |
| 3902682 | NM_021871.4(FGA):c.187A>T (p.Lys63Ter) | Pathogenic |
| 402230 | NM_021871.4(FGA):c.502C>T (p.Arg168Ter) | Pathogenic |
| 627159 | NM_021871.4(FGA):c.945del (p.Gly316fs) | Pathogenic |
| 627196 | NM_021871.4(FGA):c.103C>A (p.Arg35Ser) | Pathogenic |
| 627199 | NM_021871.4(FGA):c.104G>C (p.Arg35Pro) | Pathogenic |
| 800649 | NM_021871.4(FGA):c.811C>T (p.Arg271Ter) | Pathogenic |
| 817729 | NM_021871.4(FGA):c.327_337del (p.Met110fs) | Pathogenic |
| 1333679 | NM_021871.4(FGA):c.1690_1699dup (p.Ile567fs) | Likely pathogenic |
| 1335568 | NM_021871.4(FGA):c.1827del (p.Ser609fs) | Likely pathogenic |
| 16401 | FIBRINOGEN DETROIT 1 | Likely pathogenic |
| 16402 | NM_000508.3(FGA):c.112A>G (p.Arg38Gly) | Likely pathogenic |
SpliceAI
782 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:154586917:ACCTA:A | acceptor_loss | 1.0000 |
| 4:154586918:CCTAG:C | acceptor_loss | 1.0000 |
| 4:154586919:C:CC | acceptor_gain | 1.0000 |
| 4:154586919:CT:C | acceptor_loss | 1.0000 |
| 4:154586920:T:A | acceptor_loss | 1.0000 |
| 4:154587508:TTA:T | donor_loss | 1.0000 |
| 4:154587509:TACCT:T | donor_loss | 1.0000 |
| 4:154587510:A:AC | donor_gain | 1.0000 |
| 4:154587510:ACCT:A | donor_gain | 1.0000 |
| 4:154587511:C:CC | donor_gain | 1.0000 |
| 4:154587511:C:CG | donor_loss | 1.0000 |
| 4:154587511:CCT:C | donor_gain | 1.0000 |
| 4:154587511:CCTC:C | donor_gain | 1.0000 |
| 4:154587653:ACGGT:A | acceptor_gain | 1.0000 |
| 4:154587654:CGGT:C | acceptor_gain | 1.0000 |
| 4:154587654:CGGTC:C | acceptor_gain | 1.0000 |
| 4:154587655:GGT:G | acceptor_gain | 1.0000 |
| 4:154587656:GT:G | acceptor_gain | 1.0000 |
| 4:154587658:C:CC | acceptor_gain | 1.0000 |
| 4:154587659:T:A | acceptor_loss | 1.0000 |
| 4:154588789:TTACT:T | donor_loss | 1.0000 |
| 4:154588790:TACTA:T | donor_loss | 1.0000 |
| 4:154588791:A:AC | donor_gain | 1.0000 |
| 4:154588791:ACTAT:A | donor_loss | 1.0000 |
| 4:154588792:C:CA | donor_gain | 1.0000 |
| 4:154588792:CT:C | donor_gain | 1.0000 |
| 4:154588792:CTA:C | donor_gain | 1.0000 |
| 4:154588792:CTAT:C | donor_gain | 1.0000 |
| 4:154588792:CTATT:C | donor_gain | 1.0000 |
| 4:154588972:TAGTT:T | acceptor_gain | 1.0000 |
AlphaMissense
4234 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:154588966:C:G | C64S | 0.997 |
| 4:154588967:A:G | C64R | 0.997 |
| 4:154588967:A:T | C64S | 0.997 |
| 4:154588954:C:G | C68S | 0.996 |
| 4:154588955:A:T | C68S | 0.996 |
| 4:154589437:C:A | W60C | 0.996 |
| 4:154589437:C:G | W60C | 0.996 |
| 4:154588955:A:G | C68R | 0.995 |
| 4:154589453:C:G | C55S | 0.995 |
| 4:154589454:A:G | C55R | 0.995 |
| 4:154589454:A:T | C55S | 0.995 |
| 4:154588894:A:G | L88P | 0.994 |
| 4:154588965:G:C | C64W | 0.994 |
| 4:154589452:G:C | C55W | 0.994 |
| 4:154589453:C:T | C55Y | 0.992 |
| 4:154586889:A:C | C180W | 0.990 |
| 4:154586890:C:T | C180Y | 0.989 |
| 4:154586891:A:G | C180R | 0.989 |
| 4:154586890:C:G | C180S | 0.988 |
| 4:154586891:A:T | C180S | 0.988 |
| 4:154587600:A:G | L141P | 0.987 |
| 4:154587621:A:G | L134P | 0.987 |
| 4:154588966:C:T | C64Y | 0.987 |
| 4:154586877:G:C | C184W | 0.986 |
| 4:154587516:A:G | L169P | 0.986 |
| 4:154587558:A:G | L155P | 0.986 |
| 4:154588953:G:C | C68W | 0.986 |
| 4:154588954:C:T | C68Y | 0.986 |
| 4:154586878:C:T | C184Y | 0.985 |
| 4:154586878:C:G | C184S | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000231889 (4:154590956 G>A), RS1000929581 (4:154583648 T>C), RS1001118296 (4:154590742 T>A), RS1001142989 (4:154589716 T>C), RS1001233170 (4:154585366 C>G,T), RS1001302271 (4:154590027 T>C,G), RS1001322608 (4:154589280 G>A), RS1001353230 (4:154589062 T>G), RS1001435833 (4:154582629 T>C), RS1002282144 (4:154591063 T>C), RS1002357742 (4:154590426 C>T), RS1002438499 (4:154585025 C>A), RS1002465300 (4:154583883 G>T), RS1002742445 (4:154591387 A>G), RS1003235341 (4:154585523 G>A)
Disease associations
OMIM: gene MIM:134820 | disease phenotypes: MIM:105200, MIM:202400, MIM:616004, MIM:227400
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital afibrinogenemia | Definitive | Autosomal recessive |
| familial dysfibrinogenemia | Definitive | Autosomal dominant |
| familial visceral amyloidosis | Strong | Autosomal dominant |
| thrombophilia | Strong | Autosomal dominant |
| congenital fibrinogen deficiency | Strong | Semidominant |
| familial hypofibrinogenemia | Supportive | Autosomal dominant |
| AFib amyloidosis | 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 (10): familial visceral amyloidosis (MONDO:0007099), congenital afibrinogenemia (MONDO:0008737), familial dysfibrinogenemia (MONDO:0014452), congenital factor V deficiency (MONDO:0009210), familial hypodysfibrinogenemia (MONDO:0016638), AFib amyloidosis (MONDO:0019733), thrombocytopenia (MONDO:0002049), thrombophilia (MONDO:0002305), familial hypofibrinogenemia (MONDO:0015096), congenital fibrinogen deficiency (MONDO:0018060)
Orphanet (8): Congenital fibrinogen deficiency (Orphanet:335), Hereditary amyloidosis with primary renal involvement (Orphanet:85450), Familial afibrinogenemia (Orphanet:98880), Familial dysfibrinogenemia (Orphanet:98881), Congenital factor V deficiency (Orphanet:326), Familial hypodysfibrinogenemia (Orphanet:248408), Immunodeficiency with factor I anomaly (Orphanet:200418), AFib amyloidosis (Orphanet:93562)
HPO phenotypes
43 total (30 of 43 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000225 | Gingival bleeding |
| HP:0000421 | Epistaxis |
| HP:0000790 | Hematuria |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0000978 | Bruising susceptibility |
| HP:0000988 | Skin rash |
| HP:0001342 | Cerebral hemorrhage |
| HP:0001386 | Joint swelling |
| HP:0001396 | Cholestasis |
| HP:0001522 | Death in infancy |
| HP:0001744 | Splenomegaly |
| HP:0001892 | Abnormal bleeding |
| HP:0001917 | Renal amyloidosis |
| HP:0001934 | Persistent bleeding after trauma |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002240 | Hepatomegaly |
| HP:0002248 | Hematemesis |
| HP:0003216 | Generalized amyloid deposition |
| HP:0003577 | Congenital onset |
| HP:0003581 | Adult onset |
| HP:0003593 | Infantile onset |
| HP:0003811 | Neonatal death |
| HP:0003819 | Death in childhood |
| HP:0004936 | Venous thrombosis |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000368_6 | Fibrinogen | 8.000000e-39 |
| GCST001049_6 | D-dimer levels | 3.000000e-18 |
| GCST001158_2 | Fibrinogen | 9.000000e-90 |
| GCST001253_2 | Venous thromboembolism | 2.000000e-13 |
| GCST011359_13 | Venous thromboembolism | 9.000000e-10 |
| GCST012523_3 | Venous thromboembolism | 5.000000e-24 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004507 | D dimer 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 |
| C538249 | Amyloidosis, familial visceral (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
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2070011 | FGA | 0.00 | 0 |
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects expression, affects cotreatment, decreases expression | 9 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 6 |
| Ethinyl Estradiol | affects binding, affects cotreatment, increases expression | 5 |
| Valproic Acid | affects expression, decreases expression, decreases methylation | 5 |
| ethinyl estradiol-desogestrel combination | affects binding, increases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Gestodene | affects binding, affects cotreatment, increases expression | 3 |
| Acetaminophen | affects cotreatment, decreases expression | 3 |
| Estradiol | decreases expression, affects cotreatment, increases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| perfluorooctanoic acid | decreases expression | 2 |
| Progesterone | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Snake Venoms | affects binding, increases cleavage | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 2 |
| Levonorgestrel | affects binding, affects cotreatment, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| benzo(b)fluoranthene | affects cotreatment, affects expression | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases 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 |
| tetrabromobisphenol A | decreases expression, increases response to substance | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0U8 | Ubigene Hep G2 FGA KO | Cancer cell line | Male |
Clinical trials (associated diseases)
286 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02822599 | PHASE4 | COMPLETED | Human Fibrinogen Concentrate in Pediatric Cardiac Surgery |
| NCT01214772 | PHASE4 | COMPLETED | The Effect of Heparin in Treatment IVF-ET Failure |
| NCT03531437 | PHASE4 | TERMINATED | Comparison of Coagulation Profiles Between Zoely and Minidoz: RCT |
| NCT00039858 | PHASE4 | COMPLETED | Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin |
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Related Atlas pages
- Associated diseases: familial visceral amyloidosis, congenital afibrinogenemia, familial dysfibrinogenemia, thrombophilia, familial hypofibrinogenemia, AFib amyloidosis, congenital fibrinogen deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): AFib amyloidosis, congenital afibrinogenemia, congenital factor V deficiency, congenital fibrinogen deficiency, familial dysfibrinogenemia, familial hypodysfibrinogenemia, familial hypofibrinogenemia, familial visceral amyloidosis, thrombocytopenia, thrombophilia