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    FGA fibrinogen alpha chain [ Homo sapiens (human) ]

    Gene ID: 2243, updated on 28-Oct-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
    mouse all
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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. KotlĂ­n 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
    		Compare labs
    Familial dysfibrinogenemia
    MedGen: C0272350 OMIM: 616004 GeneReviews: Not available
    		Compare labs
    Familial visceral amyloidosis, Ostertag type
    MedGen: C0268389 OMIM: 105200 GeneReviews: Not available
    		Compare labs

    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.

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