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FGA fibrinogen alpha chain [ Homo sapiens (human) ]

Gene ID: 2243, updated on 2-Nov-2024

Summary

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Official Symbol
FGAprovided by HGNC
Official Full Name
fibrinogen alpha chainprovided by HGNC
Primary source
HGNC:HGNC:3661
See related
Ensembl:ENSG00000171560 MIM:134820; AllianceGenome:HGNC:3661
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; AMYLD2
Summary
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]
Expression
Restricted expression toward liver (RPKM 2863.0) See more
Orthologs
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Genomic context

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See FGA in Genome Data Viewer
Location:
4q31.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (154583126..154590742, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157914895..157922551, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155504278..155511894, 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 VISTA enhancer hs1706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22080 Neighboring gene uncharacterized LOC124900169 Neighboring gene fibrinogen gamma chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15768 Neighboring gene VISTA enhancer hs1707 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:155640039-155641238 Neighboring gene NANOG hESC enhancer GRCh37_chr4:155641835-155642399 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation. Eriksson M, et al. Virchows Arch, 2008 Jul. PMID 18500534
  2. Raised D-dimer levels in acute sickle cell crisis and their correlation with chest X-ray abnormalities. Dar J, et al. Ger Med Sci, 2010 Oct 8. PMID 21063468, Free PMC Article
  3. Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens. Kotlín R, et al. Blood Coagul Fibrinolysis, 2010 Oct. PMID 20829681
  4. Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'. Vorjohann S, et al. Thromb Haemost, 2010 Nov. PMID 20806111, Free PMC Article
  5. Effects of introducing fibrinogen Aalpha character into the factor XIII activation peptide segment. Jadhav MA, et al. Biochemistry, 2010 Apr 6. PMID 20218626, Free PMC Article

See all (416) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fibrinogen Aalpha gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.
    Title: Fibrinogen Aα gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.
  2. [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].
    Title: [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].
  3. Two Novel Heterozygous Mutations (p.gammaPhe230Val and p.AalphaAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families.
    Title: Two Novel Heterozygous Mutations (p.γPhe230Val and p.AαAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families.
  4. Interaction Between Platelet and Fibrinogen on Clot Strength in Healthy Patients.
    Title: Interaction Between Platelet and Fibrinogen on Clot Strength in Healthy Patients.
  5. Fibrinogen-Aalpha THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey.
    Title: Fibrinogen-Aα THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey.
  6. FGA Controls VEGFA Secretion to Promote Angiogenesis by Activating the VEGFR2-FAK Signalling Pathway.
    Title: FGA Controls VEGFA Secretion to Promote Angiogenesis by Activating the VEGFR2-FAK Signalling Pathway.
  7. An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes.
    Title: An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes.
  8. Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
    Title: Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
  9. Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.
    Title: Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.
  10. Afibrinogenemia with two compound heterozygous mutations in FGA gene.
    Title: Afibrinogenemia with two compound heterozygous mutations in FGA gene.
Submit: New GeneRIF Correction See all GeneRIFs (222)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital afibrinogenemia
MedGen: C2584774 OMIM: 202400 GeneReviews: Not available
not available
Familial dysfibrinogenemia
MedGen: C0272350 OMIM: 616004 GeneReviews: Not available
not available
Familial visceral amyloidosis, Ostertag type
MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
EBI GWAS Catalog
Genetic predictors of fibrin D-dimer levels in healthy adults.
EBI GWAS Catalog
Genetics of venous thrombosis: insights from a new genome wide association study.
EBI GWAS 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.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
enables extracellular matrix structural constituent HDA PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to signaling receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural molecule activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural molecule activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in blood coagulation, common pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in blood coagulation, common pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in blood coagulation, fibrin clot formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell-matrix adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fibrinolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fibrinolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in induction of bacterial agglutination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of blood coagulation, common pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in plasminogen activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in platelet aggregation HMP PubMed 
involved_in platelet aggregation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in platelet aggregation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of exocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of heterotypic cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of peptide hormone secretion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of vasoconstriction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polymerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein-containing complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to calcium ion IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular vesicle HDA PubMed 
part_of fibrinogen complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of fibrinogen complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in platelet alpha granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
fibrinogen alpha chain
Names
fibrinogen, A alpha polypeptide

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000508.5 → NP_000499.1  fibrinogen alpha chain isoform alpha-E preproprotein

    See identical proteins and their annotated locations for 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, AF090936, BG565064, BQ064506, BX494953
    Consensus CDS
    CCDS3787.1
    UniProtKB/Swiss-Prot
    A8K3E4, D3DP14, D3DP15, P02671, Q4QQH7, Q9BX62, Q9UCH2
    Related
    ENSP00000498441.1, ENST00000651975.2
    Conserved Domains (3) summary
    cd00087
    Location:630 → 863
    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 ...
    pfam08702
    Location:50 → 187
    Fib_alpha; Fibrinogen alpha/beta chain family
    pfam12160
    Location:445 → 509
    Fibrinogen_aC; Fibrinogen alpha C domain

  2. NM_021871.4 → NP_068657.1  fibrinogen alpha chain isoform alpha precursor

    See identical proteins and their annotated locations for 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. The encoded isoform (alpha) may undergo proteolytic processing similar to isoform alpha-E.
    Source sequence(s)
    AL531808, AL579998, BX494953, CB122305, CD608675, J00127, J00128
    Consensus CDS
    CCDS47152.1
    UniProtKB/Swiss-Prot
    P02671
    Related
    ENSP00000385981.3, ENST00000403106.8
    Conserved Domains (2) summary
    pfam08702
    Location:50 → 187
    Fib_alpha; Fibrinogen alpha/beta chain family
    pfam12160
    Location:445 → 509
    Fibrinogen_aC; Fibrinogen alpha C domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    154583126..154590742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    157914895..157922551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349260.1 → XP_054205235.1  fibrinogen alpha chain isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02671.2 GenPept UniProtKB/Swiss-Prot:P02671

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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