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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CFB Gene

protein-coding   GIFtS: 65
GCID: GC06P031917

Complement Factor B

(Previous names: B-factor, properdin)
(Previous symbols: BFD, BF)
Pneumococci & Pneumococcal Diseases Congress
  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)
About This Section

Aliases
Complement Factor B1 2     AHUS42 5
BF1 2 3 5     CFAB2
BFD1 2 3     FB2
GBG2 3 5     FBI122
B-Factor, Properdin1 2     H2-Bf2
Glycine-Rich Beta Glycoprotein2 3     C3 Proaccelerator2
Properdin Factor B2 3     C3 Proactivator2
PBF22 3     Glycine-Rich Beta-Glycoprotein2
C3/C5 Convertase2 3     EC 3.4.218
EC 3.4.21.473 8     

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 GC06P031704


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 splenic sequestration, and cfb-related atypical hemolytic-uremic syndrome, and among its related super-pathways are Immune response Lectin induced complement pathway and Initial triggering of complement. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CFB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC06P031917:  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_167245 3,199,309-3,205,449      Chr6+,NT_167246 3,256,541-3,261,361      Chr6+,NT_167249 3,246,431-3,252,571     
Chr6+,NT_113891.2 3,423,477-3,429,617      Chr6+,NT_167248 3,207,515-3,213,655      Chr6+,NT_167247 3,293,565-3,299,705     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751 (See protein sequence)
Recommended Name: Complement factor B precursor  
Size: 764 amino acids; 85533 Da
Subunit: Monomer
Subcellular location: Secreted
6/11 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00751

  • 4/33 DME Specific Peptides for CFB (P00751) (see all 33)
     YNINGKK  VLTAAHC  GDSGGPL  LTAAHCF 

    CFB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CFB Protein Expression
    REFSEQ proteins: NP_001701.2  
    ENSEMBL proteins: 
     ENSP00000420090   ENSP00000416561   ENSP00000417793   ENSP00000419887   ENSP00000418833  
     ENSP00000451848  
    Reactome Protein details: P00751
    Human Recombinant Protein Products for CFB: 
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    Novus Biologicals CFB Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFB 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005886plasma membrane TAS--

    CFB for ontologies           About GeneDecksing



    CFB Antibody Products: 
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    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)
    About This Section
    HGNC Gene Families: 
    complement: Complement system

    5/7 InterPro protein domains (see all 7):
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for CFB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CFB About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Alternative complement pathway0.56
    Regulation of Complement cascade0.50
    2Classical antibody-mediated complement activation
    Initial triggering of complement0.86
    Complement cascade0.76
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Activation of C3 and C5
    Alternative complement activation0.33
    Activation of C3 and C50.33
    5Complement and coagulation cascades
    Complement and coagulation cascades0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CFB
        Immune response Alternative complement pathway


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

    5/7        Reactome Pathways for CFB (see all 7)
        Alternative complement activation
    Regulation of Complement cascade
    Activation of C3 and C5
    Complement cascade
    Immune System


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


    CFB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CFB

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

    5/9 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CFB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CFB / CFAB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional mRNA sequence: 

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

    24/27 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 

    24/538 AceView cDNA sequences (see all 538):

    CF529533 BQ181387 AI888507 R29187 AA173492 NM_001710 BM987901 AW150869 
    AI632362 L15702 CB153816 S67310 AW372305 BC004143 BU687151 AL547343 
    CB216745 CB163248 BX445355 AA344403 BQ185863 BU622864 BQ183093 AI906334 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CFB expression in normal human tissues (normalized intensities)      CFB embryonic expression: see
    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 
     5/11 selected tissues (see all 11) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Liver Lobule
             Human Hepatocyte (HH)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Normal Human Articular chondrocytes (NHAC)   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Smooth Muscle (Muscoskeletal System)
             Coronary Artery Smooth Muscle Cells (CASMC)   

    See CFB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFB

    SOURCE GeneReport for Unigene cluster: Hs.69771
        SABiosciences Expression via Pathway-Focused PCR Array including CFB: 
              NFKB Signaling Targets in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CFB gene from 3/11 species (see all 11)    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
    34(a)
    1 → many
    2(194249046-194357470)
    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)
    About This Section
    Paralogs for CFB gene
    ENSG000002442552  C22  
    4 SIMAP similar genes for CFB using alignment to 8 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CFAB_HUMAN, P00751
    Polymorphism: 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


    10/242 SNPs in CFB are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138470   
    OMIM disorders: 603075  612924  
    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

  • 20/58 diseases for CFB (see all 58):    About MalaCards
    splenic sequestration    cfb-related atypical hemolytic-uremic syndrome    multifocal choroiditis    age related macular degeneration
    macular degeneration    priapism    retinal drusen    hemolytic-uremic syndrome
    atypical hemolytic-uremic syndrome    acute chest syndrome    mumps    lupus nephritis
    21-hydroxylase deficiency    von willebrand's disease    hemoglobinopathy    inclusion body myositis
    nephritis    choroiditis    myositis    anterior uveitis

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

    CFB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/12 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)
    About This Section

    PubMed articles for CFB gene, integrated from 9 sources (see all 257):
    (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. (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. (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. (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. (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. (1993)
    6. The principal site of glycation of human complement factor B. (PubMed id 2006911)1, 2, 9 Niemann M.A.... Miller E.J. (1991)
    7. Small, hard macular drusen and peripheral drusen: ass ociations with AMD genotypes in the Inter99 Eye Study. (PubMed id 20007824)1, 4, 9 Munch I.C....Larsen M. (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. (2009)
    9. Multilocus analysis of age-related macular degeneration. (PubMed id 19259132)1, 4, 9 Bergeron-Sawitzke J....Dean M. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 629 HGNC: 1037 AceView: BF Ensembl:ENSG00000243649 euGenes: HUgn629
    ECgene: CFB Kegg: 629 H-InvDB: CFB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CFB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFB
    SeattleSNPshttp://pga.gs.washington.edu/data/bf/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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