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    FGA fibrinogen alpha chain [ Homo sapiens (human) ]

    Gene ID: 2243, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC119422, MGC119423, MGC119425

    Gene Ontology Provided by GOA

    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 

    General protein information

    Preferred Names
    fibrinogen alpha chain
    Names
    fibrinogen, A alpha polypeptide

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000508.5NP_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: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 ...
      pfam08702
      Location:50187
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam12160
      Location:445509
      Fibrinogen_aC; Fibrinogen alpha C domain
    2. NM_021871.4NP_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:50187
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam12160
      Location:445509
      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_054349260.1XP_054205235.1  fibrinogen alpha chain isoform X1