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CFB Gene

protein-coding   GIFtS: 65
GCID: GC06P031931

Complement Factor B

(Previous names: B-factor, properdin)
(Previous symbols: BFD, BF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Complement Factor B1 2     ARMD142 5
BF1 2 3 5     CFBD2 5
BFD1 2 3     CFAB2
GBG2 3 5     FB2
B-Factor, Properdin1 2     FBI122
Glycine-Rich Beta Glycoprotein2 3     H2-Bf2
Properdin Factor B2 3     C3 Proaccelerator2
PBF22 3     C3 Proactivator2
C3/C5 Convertase2 3     Glycine-Rich Beta-Glycoprotein2
EC 3.4.21.473 8     EC 3.4.218
AHUS42 5     

External Ids:    HGNC: 10371   Entrez Gene: 6292   Ensembl: ENSG000002436497   OMIM: 1384705   UniProtKB: P007513   

Export aliases for CFB gene to outside databases

Previous GC identifers: GC06P032022 GC06P031917 GC06P031704


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CFB Gene:
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)

GeneCards Summary for CFB Gene:
CFB (complement factor B) is a protein-coding gene. Diseases associated with CFB include cfb-related atypical hemolytic-uremic syndrome, and hemolytic uremic syndrome, atypical 4. GO annotations related to this gene include complement binding and serine-type endopeptidase activity. An important paralog of this gene is ENSG00000244255.

UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751
Function: Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2
fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5
convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid
spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba
inhibits the proliferation of preactivated B-lymphocytes

Gene Wiki entry for CFB (Complement factor B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFB gene promoter:
         E2F-4   E2F-3a   E2F-5   C/EBPbeta   STAT1   MyoD   E2F-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFB promoter sequence
   Search Chromatin IP Primers for CFB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

CFB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFB gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031931:  view genomic region     (about GC identifiers)

Start:
31,895,475 bp from pter      End:
31,919,861 bp from pter
Size:
24,387 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,NT_167247 3,293,565-3,299,705      Chr6+,NT_167248 3,207,515-3,213,655      Chr6+,NT_113891.2 3,423,477-3,429,617     
Chr6+,NT_167249 3,246,431-3,252,571      Chr6+,NT_167246 3,256,541-3,261,361      Chr6+,NT_167245 3,199,309-3,205,449     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751 (See protein sequence)
Recommended Name: Complement factor B precursor  
Size: 764 amino acids; 85533 Da
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for CFB (see all 11):
1DLE (3D)        1Q0P (3D)        1RRK (3D)        1RS0 (3D)        1RTK (3D)        2OK5 (3D)    
Secondary accessions: B0QZQ6 O15006 Q29944 Q5JP67 Q5ST50 Q96HX6 Q9BTF5 Q9BX92
Alternative splicing: 2 isoforms:  P00751-1   P00751-2   

Explore the universe of human proteins at neXtProt for CFB: NX_P00751

Explore proteomics data for CFB at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn122, Asn142, Asn285, Lys291, Asn378
  • Selected DME Specific Peptides for CFB (P00751) (see all 33)
     YNINGKK  VLTAAHC  GDSGGPL  LTAAHCF 


    See CFB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001701.2  
    ENSEMBL proteins: 
     ENSP00000420090   ENSP00000416561   ENSP00000417793   ENSP00000419887   ENSP00000418833  
     ENSP00000451848  
    Reactome Protein details: P00751

    CFB Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CFB
    OriGene Protein Over-expression Lysate for CFB
    OriGene MassSpec for CFB
    OriGene Custom Protein Services for CFB
    GenScript Custom Purified and Recombinant Proteins Services for CFB
    Novus Biologicals CFB Protein
    Novus Biologicals CFB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFB

    CFB Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals CFB Antibodies
    Abcam antibodies for CFB
    Cloud-Clone Corp. Antibodies for CFB
    ThermoFisher Antibody for CFB
    LSBio Antibodies in human, mouse, rat for CFB

    CFB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CFB
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CFB
    Cloud-Clone Corp. CLIAs for CFB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    Selected InterPro protein domains (see all 8):
     IPR001314 Peptidase_S1A
     IPR028341 Complement_B
     IPR000436 Sushi_SCR_CCP
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry P00751

    ProtoNet protein and cluster: P00751

    4 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002035 Von Willebrand factor type A domain signature


    UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 3 Sushi (CCP/SCR) domains
    Similarity: Contains 1 VWFA domain


    CFB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CFAB_HUMAN, P00751
    Function: Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2
    fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5
    convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid
    spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba
    inhibits the proliferation of preactivated B-lymphocytes
    Catalytic activity: Cleavage of Arg- -Ser bond in complement component C3 alpha-chain to yield C3a and C3b, and
    Arg- -Xaa bond in complement component C5 alpha-chain to yield C5a and C5b

         Enzyme Numbers (IUBMB): EC 3.4.21.471 2 EC 3.4.212

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001848complement binding TAS11367526
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity TAS--
         
    CFB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CFB:
     Increased G1 DNA content  Increased cell size 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cfb):
     homeostasis/metabolism  immune system  normal  renal/urinary system  reproductive system 
     skeleton 

    CFB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CFB: Cfbtm1Hrc Cfbtm1Pkna

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CFB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CFB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CFB

    miRNA
    Products:
        
    miRTarBase miRNAs that target CFB:
    hsa-mir-98-5p (MIRT027802), hsa-mir-335-5p (MIRT018836)

    Block miRNA regulation of human, mouse, rat CFB using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CFB
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CFB
    Predesigned siRNA for gene silencing in human, mouse, rat CFB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CFB

    Clone
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    OriGene clones in human, mouse for CFB (see all 7)
    OriGene ORF clones in mouse, rat for CFB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFB (NM_001710)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CFB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CFAB_HUMAN, P00751: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    peroxisome2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005886plasma membrane TAS--
    GO:0072562blood microparticle IDA--

    CFB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CFB About    
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Alternative complement pathway0.56
    Activation of C3 and C50.00
    Regulation of Complement cascade0.48
    2Creation of C4 and C2 activators
    Initial triggering of complement0.85
    Alternative complement activation0.00
    Complement cascade0.68
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    4Staphylococcus aureus infection
    Staphylococcus aureus infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CFB
        Alternative Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for CFB
        Immune response Alternative complement pathway

    3 Reactome Pathways for CFB
        Alternative complement activation
    Regulation of Complement cascade
    Activation of C3 and C5


    2 Kegg Pathways  (Kegg details for CFB):
        Complement and coagulation cascades
    Staphylococcus aureus infection


    CFB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CFB: 
              NFKB Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CFB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for CFB (P007512, 3 ENSP000004165614) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010243, ENSP000002459074I2D: score=3 STRING: ENSP00000245907
    CFPP279183, ENSP000002471534I2D: score=3 STRING: ENSP00000247153
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    CFDENSP000003321394STRING: ENSP00000332139
    CFHENSP000003563994STRING: ENSP00000356399
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006956complement activation TAS--
    GO:0006957complement activation, alternative pathway TAS--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    CFB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFB (CFAB)

    2 DrugBank Compounds for CFB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Guanidinobenzoic Acid-- --target--17139284 17016423
    Diisopropylphosphono Group-- --target--17139284 17016423

    5 Novoseek inferred chemical compound relationships for CFB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 43.3 10 7963526 (2), 2174104 (1), 9748277 (1), 19187590 (1) (see all 8)
    agarose 35.5 2 9832358 (1), 8740896 (1)
    cellulose acetate 31.8 1 1820159 (1)
    polyacrylamide 13.3 3 7619777 (1), 8740896 (1)
    glucose 0 1 2006911 (1)



    CFB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CFB gene: 
    NM_001710.5  

    Unigene Cluster for CFB:

    Complement factor B
    Hs.69771  [show with all ESTs]
    Unigene Representative Sequence: NM_001710
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475617 ENST00000425368(uc003nyi.2 uc003nyj.4) ENST00000472581(uc011dos.1)
    ENST00000460718 ENST00000452035 ENST00000461483 ENST00000497841 ENST00000465750
    ENST00000482886 ENST00000483004 ENST00000467150 ENST00000467360 ENST00000482312
    ENST00000498317 ENST00000556679
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CFB
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    GenScript: all cDNA clones in your preferred vector: CFB (NM_001710)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CFB
      QuantiFast Probe-based Assays in human, mouse, rat CFB

    Additional mRNA sequence: 

    AK130533.1 AK223400.1 BC004143.2 BC007990.2 J00126.1 K01566.1 L15702.1 S67310.1 
    X00284.1 X72875.1 

    Selected DOTS entries (see all 27):

    DT.455779  DT.99978913  DT.121361976  DT.102841798  DT.95308907  DT.121361915  DT.100886036  DT.121361400 
    DT.121361494  DT.95281222  DT.121361424  DT.121361407  DT.100033574  DT.92461898  DT.99993993  DT.100663299 
    DT.121361416  DT.100886040  DT.100765522  DT.121361714  DT.121361327  DT.121361429  DT.121361473  DT.121361935 

    Selected AceView cDNA sequences (see all 538):

    CB054217 BX489559 BU684100 AK130533 BQ184176 L15702 AI891113 BG568862 
    CB124815 CD366267 AA173492 S67310 CB153816 AI282327 BU632723 BC004143 
    BU687151 AL547343 CB216745 CB163248 BX445355 AA344403 BQ185863 BU622864 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGCCAAG
    CFB Expression
    About this image


    CFB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Lung (Respiratory System)
    CFB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.69771
        Pathway & Disease-focused RT2 Profiler PCR Array including CFB: 
              NFKB Signaling Targets in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CFB
    OriGene qSTAR qPCR primer pairs in human, mouse for CFB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFB
    QuantiTect SYBR Green Assays in human, mouse, rat CFB
    QuantiFast Probe-based Assays in human, mouse, rat CFB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CFB gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfb1 , 5 complement factor B1, 5 83.88(n)1
    84.19(a)1
      17 (18.41 cM)5
    149621  NM_008198.21  NP_032224.21 
     348563745 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    33(a)
    1 → many
    2(194249046-194357470)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004914191 complement factor B-like 51.57(n)
    42.83(a)
      100491419  XM_002942975.2  XP_002943021.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1584461 zgc:158446 50.64(n)
    40.71(a)
      792472  NM_001083858.1  NP_001077327.1 


    ENSEMBL Gene Tree for CFB (if available)
    TreeFam Gene Tree for CFB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFB gene
    ENSG000002442552  C22  
    4 SIMAP similar genes for CFB using alignment to 7 protein entries:     CFAB_HUMAN (see all proteins):
    BF    DKFZp779M0311    C2    KLK13

    CFB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CFAB_HUMAN, P00751: Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have
    been identified. The variants His-9 and Gln-32 are associated with a reduced risk of age-related macular
    degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible
    vision loss in the developed world


    Selected SNPs for CFB (see all 242)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0636604
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636602 R Q mis40--------
    VAR_0632214
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0632212 F L mis40--------
    VAR_0636594
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636592 S P mis40--------
    VAR_0632224
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0632222 K E mis40--------
    VAR_0636624
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636622 K Q mis40--------
    VAR_0636644
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636642 K R mis40--------
    VAR_0636614
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636612 I L mis40--------
    VAR_0636634
    Hemolytic uremic syndrome atypical 4 (AHUS4)4--see VAR_0636632 M I mis40--------
    rs126141,2,,4
    C,F,Hnon-pathogenic131831500(+) TGGCCC/TGGCCC 2 R W mis138Minor allele frequency- T:0.18NS EA NA WA CSA EU 9637
    rs6411531,2,,4
    C,F,A,Hpathogenic131831501(-) GGGGCA/C/TGGGCC 2 Q R mis124NS MN EA WA NA CSA EU 8012

    HapMap Linkage Disequilibrium report for CFB (31895475 - 31919861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CFB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819433CNV Loss19587683
    nsv830628CNV Loss17160897
    nsv884512CNV Gain21882294
    nsv428141CNV Gain+Loss18775914
    dgv1928e1CNV Complex17122850
    dgv1929e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CFB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CFB
    DNA2.0 Custom Variant and Variant Library Synthesis for CFB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138470   
    OMIM disorders: 615489  612924  615561  
    UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751
  • Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]: An atypical form of hemolytic uremic syndrome.
    It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal
    failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome,
    atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal
    disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various
    components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying
    the phenotype

  • Selected diseases for CFB (see all 68):    
    About MalaCards
    cfb-related atypical hemolytic-uremic syndrome    hemolytic uremic syndrome, atypical 4    macular degeneration, age-related, 14, reduced risk of    multifocal choroiditis
    c4b deficiency    splenic sequestration    retinal drusen    dense deposit disease
    hemolytic-uremic syndrome    age related macular degeneration    priapism    atypical hemolytic-uremic syndrome
    acute chest syndrome    21-hydroxylase deficiency    lupus nephritis    anterior uveitis
    mumps    hemoglobinopathy    von willebrand's disease    choroiditis

    3 diseases from the University of Copenhagen DISEASES database for CFB:
    Age related macular degeneration     hemolytic-uremic syndrome     Nephritis

    CFB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CFB gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uremic syndrome 50.2 2 17182750 (1), 20108004 (1)
    lupus nephritis 17.3 2 17427761 (1)
    diabetes mellitus insulin-dependent 17.3 1 2340795 (1)
    hepatitis b 0.395 1 8834646 (1)
    virus infection 0 1 7948818 (1)
    sepsis 0 3 19279234 (1), 18672286 (1), 8611196 (1)
    necrosis 0 3 17234088 (1), 10908695 (1), 8611196 (1)
    hiv infections 0 1 1823312 (1)
    hepatitis 0 1 15864330 (1)
    rheumatoid arthritis 0 4 1563983 (2), 8973870 (1)

    GeneTests: CFB
    GeneReviews: CFB
    Genetic Association Database (GAD): CFB
    Human Genome Epidemiology (HuGE) Navigator: CFB (61 documents)

    Export disorders for CFB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CFB gene, integrated from 10 sources (see all 262):
    (articles sorted by number of sources associating them with CFB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)1, 2, 4, 9 Maga T.K.... Smith R.J.H. (Hum. Mutat. 2010)
    2. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. (PubMed id 16518403)1, 2, 4 Gold B.... Allikmets R. (Nat. Genet. 2006)
    3. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. (PubMed id 19696172)1, 4, 9 Kaur I....Chakrabarti S. (amp 2010)
    4. Allotyping human complement factor B in Asian Indian type 1 diabetic patients. (PubMed id 19000152)1, 4, 9 Kumar N....Mehra N.K. (Tissue Antigens 2008)
    5. Human complement factor B: functional properties of a recombinant zymogen of the alternative activation pathway convertase. (PubMed id 8225386)1, 2, 9 Schwaeble W.... Dippold W. (Immunobiology 1993)
    6. The principal site of glycation of human complement factor B. (PubMed id 2006911)1, 2, 9 Niemann M.A.... Miller E.J. (Biochem. J. 1991)
    7. Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. (PubMed id 20007824)1, 4, 9 Munch I.C....Larsen M. (amp 2010)
    8. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. (PubMed id 19899988)1, 4, 9 Pei X.T....Xiao H.X. (Curr. Eye Res. 2009)
    9. Multilocus analysis of age-related macular degeneration. (PubMed id 19259132)1, 4, 9 Bergeron-Sawitzke J....Dean M. (Eur. J. Hum. Genet. 2009)
    10. Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. (PubMed id 19001225)1, 4, 9 Ferrara D.C....Allikmets R. (Arch. Ophthalmol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 629 HGNC: 1037 AceView: BF Ensembl:ENSG00000243649 euGenes: HUgn629
    ECgene: CFB Kegg: 629 H-InvDB: CFB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CFB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFB[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/bf/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFB gene:
    Search GeneIP for patents involving CFB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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