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FGA fibrinogen alpha chain [ Homo sapiens (human) ]

Gene ID: 2243, updated on 11-Sep-2014
Official Symbol
FGAprovided by HGNC
Official Full Name
fibrinogen alpha chainprovided by HGNC
Primary source
HGNC:HGNC:3661
See related
Ensembl:ENSG00000171560; HPRD:00619; MIM:134820; Vega:OTTHUMG00000150330
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Fib2
Summary
The protein encoded by this gene is the alpha 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, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq, Jul 2008]
Location:
4q28
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (154583128..154590745, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155504280..155511897, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase pseudogene Neighboring gene fibrinogen beta chain Neighboring gene fibrinogen gamma chain Neighboring gene lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial visceral amyloidosis, Ostertag type
MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
NHGRI GWA Catalog
Genetic predictors of fibrin D-dimer levels in healthy adults.
NHGRI GWA Catalog
Genetics of venous thrombosis: insights from a new genome wide association study.
NHGRI GWA Catalog
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
NHGRI GWA Catalog
  • Amyloids, organism-specific biosystem (from REACTOME)
    Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
  • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
    Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
  • Common Pathway, organism-specific biosystem (from REACTOME)
    Common Pathway, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • GRB2:SOS provides linkage to MAPK signaling for Integrins, organism-specific biosystem (from REACTOME)
    GRB2:SOS provides linkage to MAPK signaling for Integrins, organism-specific biosystemIntegrin signaling is linked to the MAP kinase pathway by recruiting Grb2 to the FADK1/SRC activation complex.
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Integrin alphaIIb beta3 signaling, organism-specific biosystem (from REACTOME)
    Integrin alphaIIb beta3 signaling, organism-specific biosystemAt the sites of vascular injury bioactive molecules such as thrombin, ADP, collagen, fibrinogen and thrombospondin are generated, secreted or exposed. These stimuli activate platelets, converting the...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • Platelet Aggregation (Plug Formation), organism-specific biosystem (from REACTOME)
    Platelet Aggregation (Plug Formation), organism-specific biosystemThe tethering of platelets to the site of vascular injury is the first step in the formation of a platelet thrombus. Firm adhesion of these tethered platelets, as well as the additional recruitment o...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • p130Cas linkage to MAPK signaling for integrins, organism-specific biosystem (from REACTOME)
    p130Cas linkage to MAPK signaling for integrins, organism-specific biosystemIntegrin signaling is linked to the MAP kinase pathway by recruiting p130cas and Crk to the FAK/Src activation complex.
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC119422, MGC119423, MGC119425

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to cell adhesion molecule binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IEA
Inferred from Electronic Annotation
more info
 
contributes_to receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
blood coagulation, common pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
negative regulation of blood coagulation, common pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet aggregation IDA
Inferred from Direct Assay
more info
PubMed 
platelet aggregation IMP
Inferred from Mutant Phenotype
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptide hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading NAS
Non-traceable Author Statement
more info
 
positive regulation of vasoconstriction IDA
Inferred from Direct Assay
more info
PubMed 
protein polymerization IDA
Inferred from Direct Assay
more info
PubMed 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
fibrinogen complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
vesicle IDA
Inferred from Direct Assay
more info
 
Preferred Names
fibrinogen alpha chain
Names
fibrinogen alpha chain
fibrinogen, A alpha polypeptide

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008832.1 

    Range
    5001..12618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_557

mRNA and Protein(s)

  1. NM_000508.3NP_000499.1  fibrinogen alpha chain isoform alpha-E preproprotein

    See proteins identical to NP_000499.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha-E) represents the longer transcript and encodes the longer isoform (alpha-E).
    Source sequence(s)
    AC107385, BG565064, BQ064506, BX494953
    Consensus CDS
    CCDS3787.1
    UniProtKB/Swiss-Prot
    P02671
    Related
    ENSP00000306361, OTTHUMP00000197064, ENST00000302053, OTTHUMT00000317593
    Conserved Domains (3) summary
    pfam08702
    Location:48186
    Fib_alpha; Fibrinogen alpha/beta chain family
    cd00087
    Location:630863
    FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
    pfam12160
    Location:445510
    Fibrinogen_aC; Fibrinogen alpha C domain
  2. NM_021871.2NP_068657.1  fibrinogen alpha chain isoform alpha preproprotein

    See proteins identical to NP_068657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) is alternatively spliced in the 3' coding region and 3' UTR, resulting in a shorter isoform (alpha) with a different carboxy-terminus compared to isoform alpha-E.
    Source sequence(s)
    AL531808, AL579998, BX494953, CB122305, CD608675, J00127
    Consensus CDS
    CCDS47152.1
    UniProtKB/Swiss-Prot
    P02671
    Related
    ENSP00000385981, OTTHUMP00000197063, ENST00000403106, OTTHUMT00000317592
    Conserved Domains (2) summary
    pfam08702
    Location:48186
    Fib_alpha; Fibrinogen alpha/beta chain family
    pfam12160
    Location:445510
    Fibrinogen_aC; Fibrinogen alpha C domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    154583128..154590745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    151244861..151252473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    155482201..155489817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)