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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. [provided by RefSeq, Jan 2016]
FGA (Fibrinogen Alpha Chain) is a Protein Coding gene. Diseases associated with FGA include Dysfibrinogenemia, Congenital and Afibrinogenemia, Congenital. Among its related pathways are Activated TLR4 signalling and RET signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein binding, bridging. An important paralog of this gene is TNR.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J154589 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE | 600.7 | -0.1 | -87 | 3.3 | GATAD2A REST TFE3 SOX13 NFKBIZ RCOR2 RBFOX2 RXRB IRF2 SP1 | FGA lnc-FGG-2 FGG LRAT HSALNG0037998 | |
GH04J154598 | Enhancer | 0.9 | FANTOM5 | 21.2 | -7.5 | -7509 | 0.2 | GATAD2A ATF7 TFE3 SOX13 NFKBIZ RCOR2 RXRB REST BRD4 SP1 | FGA FGB FGG LRAT HSALNG0037998 ENSG00000287770 | |
GH04J154506 | Enhancer | 0.8 | Ensembl ENCODE | 9.8 | +83.6 | 83609 | 1.7 | CTCF FOXA1 REST RAD21 ZNF140 CBX3 ESR1 CTBP1 FOXK2 SMC3 | PLRG1 RNU6-1285P LRAT FGA DCHS2 piR-48759-237 ENSG00000250609 | |
GH04J154512 | Enhancer | 0.3 | Ensembl CraniofacialAtlas | 9.7 | +78.2 | 78220 | 1.4 | DCHS2 FGA PLRG1 piR-48759-237 ENSG00000250609 | ||
GH04J154516 | Enhancer | 0.3 | Ensembl CraniofacialAtlas | 9.7 | +74.0 | 74044 | 1.4 | PLRG1 DCHS2 RNU6-1285P LRAT FGA ENSG00000250609 piR-48759-237 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | contributes_to signaling receptor binding | IEA,IDA | 10903502 |
GO:0005198 | structural molecule activity | IMP | 10891444 |
GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
GO:0005515 | protein binding | IPI | 10954706 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005577 | fibrinogen complex | IEA,IDA | 8910396 |
GO:0005615 | extracellular space | IDA | 6777381 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Formation of Fibrin Clot (Clotting Cascade) |
Extrinsic Prothrombin Activation Pathway
.01
|
|
4 | Integrin alphaIIb beta3 signaling | ||
5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0007160 | cell-matrix adhesion | IDA | 10903502 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Alteplase | Approved | Pharma | Target, activator | 0 | ||
Anistreplase | Approved | Pharma | Target, activator | 0 | ||
Reteplase | Approved, Investigational | Pharma | Target, activator | 9 | ||
Ancrod | Approved, Investigational | Pharma | Target | 6 | ||
Anti-inhibitor coagulant complex | Approved, Investigational | Pharma | Target, cleavage | 14 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FGA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FGA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fga 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fga 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FGA 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FGA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FGA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FGA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FGA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fga 30 |
|
||
Str.8667 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | fga-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fga 30 31 |
|
OneToOne | |
wufb59b03 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8642 32 |
|
|
|
CG1791 32 |
|
|
|||
sca 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627159 | Pathogenic: Hypofibrinogenemia | 154,586,483(-) | CA/C | FRAMESHIFT_VARIANT | |
627196 | Pathogenic: Hypofibrinogenemia | 154,589,514(-) | G/T | MISSENSE_VARIANT | |
627199 | Pathogenic: Hypofibrinogenemia | 154,589,513(-) | C/G | MISSENSE_VARIANT | |
627216 | Likely Pathogenic: Hypofibrinogenemia | 154,589,499(-) | CA/C | FRAMESHIFT_VARIANT | |
627244 | Likely Pathogenic: Hypofibrinogenemia | 154,585,957(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3304006 | CNV | mobile element insertion | 20981092 |
esv3451661 | CNV | insertion | 20981092 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dysfibrinogenemia, congenital |
|
|
afibrinogenemia, congenital |
|
|
amyloidosis, familial visceral |
|
|
afib amyloidosis |
|
|
amyloidosis |
|
|