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    Cfb complement factor B [ Mus musculus (house mouse) ]

    Gene ID: 14962, updated on 3-Dec-2024

    Summary

    Official Symbol
    Cfbprovided by MGI
    Official Full Name
    complement factor Bprovided by MGI
    Primary source
    MGI:MGI:105975
    See related
    Ensembl:ENSMUSG00000090231 AllianceGenome:MGI:105975
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bf; C2; Fb; H2-Bf
    Summary
    Predicted to enable serine-type endopeptidase activity. Acts upstream of or within complement activation, alternative pathway. Predicted to be located in extracellular region. Is expressed in embryo and liver lobe. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Orthologous to human CFB (complement factor B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver E18 (RPKM 279.0), liver adult (RPKM 221.3) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Cfb in Genome Data Viewer
    Location:
    17 B1; 17 18.41 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35075350..35081492, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (34856374..34862514, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene SKI2 subunit of superkiller complex Neighboring gene microRNA 6970 Neighboring gene STARR-positive B cell enhancer ABC_E5597 Neighboring gene negative elongation factor complex member E, Rdbp Neighboring gene microRNA 6972 Neighboring gene complement C2 Neighboring gene STARR-seq mESC enhancer starr_42440 Neighboring gene predicted gene, 40706 Neighboring gene zinc finger and BTB domain containing 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (6)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    complement factor B
    Names
    C3/C5 convertase
    Factor B
    alternative-complement pathway C3/C5 convertase
    complement component 2 (within H-2S)
    histocompatibility 2, complement component factor B
    properdin
    NP_001136178.1
    NP_001389804.1
    NP_032224.2
    XP_006523735.1

    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.

    mRNA and Protein(s)

    1. NM_001142706.2NP_001136178.1  complement factor B isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      CT573030
      Consensus CDS
      CCDS50079.1
      UniProtKB/TrEMBL
      B8JJM6, F6XQ00
      Related
      ENSMUSP00000120990.2, ENSMUST00000154526.8
      Conserved Domains (4) summary
      cd00033
      Location:102157
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:5482
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd01470
      Location:268465
      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 ...
      cl21584
      Location:488599
      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 ...
    2. NM_001402875.1NP_001389804.1  complement factor B isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      CT573030
      UniProtKB/Swiss-Prot
      P04186
      UniProtKB/TrEMBL
      Q3UEG8
    3. NM_008198.3NP_032224.2  complement factor B isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      CT573030
      Consensus CDS
      CCDS28663.2
      UniProtKB/Swiss-Prot
      P04186
      UniProtKB/TrEMBL
      B8JJM5, Q3UEG8
      Related
      ENSMUSP00000025229.5, ENSMUST00000025229.11
      Conserved Domains (5) summary
      cd00033
      Location:102157
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:5482
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00190
      Location:488754
      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:268465
      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 ...
      pfam00089
      Location:490751
      Trypsin; Trypsin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      35075350..35081492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006523672.3XP_006523735.1  complement factor B isoform X2

      See identical proteins and their annotated locations for XP_006523735.1

      UniProtKB/TrEMBL
      F6XQ00
      Conserved Domains (4) summary
      cd00033
      Location:102157
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:5482
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd01470
      Location:268465
      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 ...
      cl21584
      Location:488599
      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 ...