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FGA fibrinogen alpha chain [ Homo sapiens (human) ]

Gene ID: 2243, updated on 5-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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
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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC119422, MGC119423, MGC119425

Gene Ontology Provided by GOA

Items 1 - 25 of 28
Process Evidence Code Pubs
involved_in adaptive immune response  
involved_in blood coagulation, common pathway  
involved_in blood coagulation, common pathway PubMed 
involved_in blood coagulation, fibrin clot formation PubMed 
involved_in cell-matrix adhesion PubMed 
involved_in fibrinolysis  
involved_in fibrinolysis PubMed 
involved_in induction of bacterial agglutination PubMed 
involved_in innate immune response  
involved_in negative regulation of blood coagulation, common pathway PubMed 
involved_in negative regulation of endothelial cell apoptotic process PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors PubMed 
involved_in plasminogen activation PubMed 
involved_in platelet aggregation PubMed 
involved_in platelet aggregation  
involved_in platelet aggregation PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade PubMed 
involved_in positive regulation of exocytosis PubMed 
involved_in positive regulation of heterotypic cell-cell adhesion  
involved_in positive regulation of heterotypic cell-cell adhesion PubMed 
involved_in positive regulation of peptide hormone secretion PubMed 
involved_in positive regulation of protein secretion PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading PubMed 
involved_in positive regulation of vasoconstriction PubMed 
involved_in protein polymerization PubMed 
involved_in protein-containing complex assembly PubMed 
involved_in protein-containing complex assembly PubMed 
involved_in response to calcium ion PubMed 
Items 1 - 25 of 28

General protein information

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_000508.5NP_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

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