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    CFB complement factor B [ Homo sapiens ]

    Gene ID: 629, updated on 13-May-2012
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    Summary

    Official Symbol
    CFBprovided by HGNC
    Official Full Name
    complement factor Bprovided by HGNC
    Primary source
    HGNC:1037
    Locus tag
    DADB-122G4.5
    See related
    Ensembl:ENSG00000243649; HPRD:00718; MIM:138470; Vega:OTTHUMG00000031198
    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
    BF; FB; BFD; GBG; CFAB; PBF2; AHUS4; FBI12; H2-Bf; FLJ54899
    Summary
    This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (31913721..31919861)
    See CFB in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene euchromatic histone-lysine N-methyltransferase 2 Neighboring gene zinc finger and BTB domain containing 12 Neighboring gene complement component 2 Neighboring gene RD RNA binding protein Neighboring gene microRNA 1236 Neighboring gene superkiller viralicidic activity 2-like (S. cerevisiae)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. Kim SJ, et al. Exp Eye Res, 2012 Mar. PMID 22273503.
    2. Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. Nakata I, et al. Invest Ophthalmol Vis Sci, 2012 Feb. PMID 22232432.
    3. Access to the complement factor B scissile bond is facilitated by association of factor B with C3b protein. Hourcade DE, et al. J Biol Chem, 2011 Oct 14. PMID 21862585.
    4. The association between macular pigment optical density and CFH, ARMS2, C2/BF, and C3 genotype. Loane E, et al. Exp Eye Res, 2011 Nov. PMID 21816153.
    5. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Yu Y, et al. Hum Mol Genet, 2011 Sep 15. PMID 21665990.

    See all (123) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. In conclusion, the genetic effect of C2, CFB and C3 polymorphisms, which are known to be important for AMD in Caucasian, were not significant in the Korean population.
      Title: Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
    2. C2/CFB variants play a protective role in the risk of developing neovascular AMD and PCV in the Japanese.
      Title: Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.
    3. This study did not detect an association between individual age-related macular degeneration risk genotypes and the putatively protective macular pigments, or serum concentrations of its constituent carotenoids
      Title: The association between macular pigment optical density and CFH, ARMS2, C2/BF, and C3 genotype.
    4. Access to the complement factor B scissile bond is facilitated by association of factor B with C3b protein.
      Title: Access to the complement factor B scissile bond is facilitated by association of factor B with C3b protein.
    5. the concept of a functional complotype (combination of C3(R102G), factor B (fB(R32Q), and factor H (fH(V62I) polymorphisms) in defining complement activity in an individual, influencing susceptibility to alternative pathway-driven disease.
      Title: Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk.
    6. Complement factor B polymorphism 32W protects against age-related macular degeneration.
      Title: Complement factor B polymorphism 32W protects against age-related macular degeneration.
    7. the association with the known genetic susceptibility loci CFH, HTRA1, and AMRS2 were confirmed, and a risk-conferring polymorphism in one new locus, LRP5, was identified.
      Title: Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD.
    8. These studies show that the acquisition of fH to the S. aureus surface inhibits complement-mediated opsonization via disruption of the alternative pathway convertase.
      Title: Disruption of the alternative pathway convertase occurs at the staphylococcal surface via the acquisition of factor H by Staphylococcus aureus.
    9. CFB 32W (rs12614; T) protects against age-related macular degeneration compared to the common CFB 32R. The protective effect is less strong than CFB 32Q. Knowledge of both rs641153 and rs12614 is required to predict the amino acid at residue 32.
      Title: Complement factor B polymorphism 32W protects against age-related macular degeneration.
    10. Studies indicate that mutations or polymorphisms in complement genes C3 and factor B are genetic risk factors contributing hemolytic uremic syndrome.
      Title: Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.
    Submit: New GeneRIF Correction See all (52)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

    Hemolytic uremic syndrome, atypical, susceptibility to, 4

    Macular degeneration, age-related, reduced risk of

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P00751 P01024 C3    HPRD  PubMed  
    P00751 P27918 CFP    HPRD  PubMed  
    P00751 Complement component 4B     HPRD  PubMed  
    BioGRID:107098 BioGRID:107179 C3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107098 BioGRID:111222 CFP    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: C2

    Homology

    Pathways from BioSystems

    • Activation of C3 and C5, organism-specific biosystem (from REACTOME)
      Activation of C3 and C5, organism-specific biosystemThe 3 pathways of complement activation converge on the cleavage of C3 by C3 convertases. C3 convertase cleaves C3 into C3a and C3b - a central step of complement activation. C3a remains in the flu...
    • Alternative complement activation, organism-specific biosystem (from REACTOME)
      Alternative complement activation, organism-specific biosystemThe proteins participating in alternative pathway activation are C3 (and C3b), the factors B, D, and properdin. In the first place, alternative pathway activation is a positive feedback mechanism to ...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemThe complement system is a biochemical cascade, so named because it 'complements' the ability of antibodies to clear pathogens. It is part of the innate immune system. Complement system proteins circ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Initial triggering of complement, organism-specific biosystem (from REACTOME)
      Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
      Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
      Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    complement binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    complement activation TAS
    Traceable Author Statement
    more info
    		  
    complement activation, alternative pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    complement activation, alternative pathway TAS
    Traceable Author Statement
    more info
    		  
    innate immune response TAS
    Traceable Author Statement
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    complement factor B
    Names
    complement factor B
    C3 proactivator
    C3/C5 convertase
    C3 proaccelerator
    properdin factor B
    B-factor, properdin
    glycine-rich beta glycoprotein
    glycine-rich beta-glycoprotein
    NP_001701.2
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    NCBI Reference Sequences (RefSeq)

    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_008191.1 RefSeqGene

      Range
      5001..11141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_136

    mRNA and Protein(s)

    1. NM_001710.5 → NP_001701.2  complement factor B preproprotein

      Status: REVIEWED

      Source sequence(s)
      BC004143, CD689714, DC368322
      Consensus CDS
      CCDS4729.1
      UniProtKB/Swiss-Prot
      P00751
      Related
      ENSP00000416561, OTTHUMP00000029283, ENST00000425368, OTTHUMT00000076395
      Conserved Domains (4) summary
      cd00190
      Location:488 – 755
      Blast Score: 351
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      cd01470
      Location:269 – 466
      Blast Score: 808
      vWA_complement_factors; Complement factors B and C2 are two critical proteases for complement activation. They both contain three CCP or Sushi domains, a trypsin-type serine protease domain and a single VWA domain with a conserved metal ion dependent adhesion site referred ...
      cd00033
      Location:103 – 158
      Blast Score: 175
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cl00043
      Location:55 – 83
      Blast Score: 89
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      31913721..31919861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p5 ALT_REF_LOCI_2

      Range
      3423477..3429617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p5 ALT_REF_LOCI_3

      Range
      3199309..3205449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p5 ALT_REF_LOCI_4

      Range
      3256541..3261361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p5 ALT_REF_LOCI_5

      Range
      3293565..3299705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p5 ALT_REF_LOCI_6

      Range
      3207515..3213655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p5 ALT_REF_LOCI_7

      Range
      3246431..3252571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      31700690..31706830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF019413.1 AAB67977.1
    genomic AF551848.1 AAN71991.1
    genomic AL645922.12 (42208..48348) None
    genomic AL662849.8 (32109..38249) None
    genomic AL844853.23 CAI41860.1
    genomic BX005143.8 CAM25864.1
    genomic CH471081.1 EAX03550.1
    genomic CR388180.5 (1334..1868) None
    genomic CR388219.12 CAQ07483.1
    genomic CR759782.7 CAQ07113.1
    genomic CR933857.3 (29337..33622) None
    genomic M15082.1 AAA59625.1
    mRNA AF349679.1 AAK30167.1
    mRNA AK130533.1 None
    mRNA AK223400.1 BAD97120.1
    mRNA AK304042.1 BAG64953.1
    mRNA AL701961.1 None
    mRNA BC004143.2 AAH04143.1
    mRNA BC007990.2 AAH07990.1
    mRNA BI258352.1 None
    mRNA CD689714.1 None
    mRNA DC368322.1 None
    mRNA J00126.1 AAA36226.1
    mRNA J00185.1 AAA36219.1
    mRNA J00186.1 AAA36220.1
    mRNA K01566.1 AAA36225.2
    mRNA L15702.1 AAA16820.1
    mRNA S67310.1 AAD13989.1
    mRNA X00284.1 CAA25077.1
    mRNA X72875.1 CAA51389.1
    other-genetic DQ892313.2 ABM83239.1
    other-genetic DQ895516.2 ABM86442.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00751.2 GenPept UniProtKB/Swiss-Prot:P00751
    Q53F89 GenPept UniProtKB/TrEMBL:Q53F89
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    Additional Links

    Additional Links

    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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