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    FGB fibrinogen beta chain [ Homo sapiens (human) ]

    Gene ID: 2244, updated on 7-Apr-2024

    Summary

    Official Symbol
    FGBprovided by HGNC
    Official Full Name
    fibrinogen beta chainprovided by HGNC
    Primary source
    HGNC:HGNC:3662
    See related
    Ensembl:ENSG00000171564 MIM:134830; AllianceGenome:HGNC:3662
    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
    HEL-S-78p
    Summary
    The protein encoded by this gene is the beta 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. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
    Expression
    Restricted expression toward liver (RPKM 2456.5) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4q31.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (154562980..154572807)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157894764..157904590)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155484132..155493959)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene pleiotropic regulator 1 Neighboring gene RNA, U6 small nuclear 1285, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22079 Neighboring gene Sharpr-MPRA regulatory region 11496 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase pseudogene Neighboring gene fibrinogen alpha chain Neighboring gene fibrinogen gamma chain

    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
    Compare labs
    Familial dysfibrinogenemia
    MedGen: C0272350 OMIM: 616004 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
    Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    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

    • MGC104327, MGC120405

    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, fibrin clot formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in blood coagulation, fibrin clot formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leptin stimulus IEA
    Inferred from Electronic Annotation
    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 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 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 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 response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fibrinogen beta chain
    Names
    beta-fibrinogen
    epididymis secretory sperm binding protein Li 78p
    fibrinogen, B beta 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_008833.1 RefSeqGene

      Range
      5001..14784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_558

    mRNA and Protein(s)

    1. NM_001184741.1NP_001171670.1  fibrinogen beta chain isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_001171670.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC107385, AK312972, BC036007
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (2) summary
      pfam08702
      Location:57175
      Fib_alpha; Fibrinogen alpha/beta chain family
      cl00085
      Location:178427
      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 ...
    2. NM_001382759.1NP_001369688.1  fibrinogen beta chain isoform 3 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (2) summary
      pfam00147
      Location:193442
      Fibrinogen_C; Fibrinogen beta and gamma chains, C-terminal globular domain
      pfam08702
      Location:96190
      Fib_alpha; Fibrinogen alpha/beta chain family
    3. NM_001382760.1NP_001369689.1  fibrinogen beta chain isoform 4 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (2) summary
      cd00087
      Location:238417
      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:92234
      Fib_alpha; Fibrinogen alpha/beta chain family
    4. NM_001382761.1NP_001369690.1  fibrinogen beta chain isoform 5 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (2) summary
      cd00087
      Location:238414
      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:92234
      Fib_alpha; Fibrinogen alpha/beta chain family
    5. NM_001382762.1NP_001369691.1  fibrinogen beta chain isoform 6 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      Conserved Domains (2) summary
      pfam08702
      Location:92234
      Fib_alpha; Fibrinogen alpha/beta chain family
      cl00085
      Location:249386
      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 ...
    6. NM_001382763.1NP_001369692.1  fibrinogen beta chain isoform 7 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (1) summary
      cd00087
      Location:238484
      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 ...
    7. NM_001382764.1NP_001369693.1  fibrinogen beta chain isoform 8 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      Conserved Domains (2) summary
      pfam08702
      Location:92234
      Fib_alpha; Fibrinogen alpha/beta chain family
      cl00085
      Location:238359
      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 ...
    8. NM_001382765.1NP_001369694.1  fibrinogen beta chain isoform 9 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AC107385
      UniProtKB/TrEMBL
      B4E1D3
      Conserved Domains (2) summary
      pfam00147
      Location:237478
      Fibrinogen_C; Fibrinogen beta and gamma chains, C-terminal globular domain
      pfam08702
      Location:92234
      Fib_alpha; Fibrinogen alpha/beta chain family
    9. NM_005141.5NP_005132.2  fibrinogen beta chain isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_005132.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC107385, AK312972, J00129
      Consensus CDS
      CCDS3786.1
      UniProtKB/Swiss-Prot
      A0JLR9, B2R7G3, P02675, Q32Q65, Q3KPF2
      UniProtKB/TrEMBL
      B4E1D3, V9HVY1
      Related
      ENSP00000306099.4, ENST00000302068.9
      Conserved Domains (2) summary
      cl00085
      Location:237486
      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:92234
      Fib_alpha; Fibrinogen alpha/beta chain family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      154562980..154572807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      157894764..157904590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)