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Aliases for CFB Gene

Aliases for CFB Gene

  • Complement Factor B 2 3
  • GBG 3 4 6
  • BF 3 4 6
  • Glycine-Rich Beta Glycoprotein 3 4
  • B-Factor, Properdin 2 3
  • Properdin Factor B 3 4
  • C3/C5 Convertase 3 4
  • EC 3.4.21.47 4 63
  • ARMD14 3 6
  • AHUS4 3 6
  • CFBD 3 6
  • PBF2 3 4
  • BFD 3 4
  • Glycine-Rich Beta-Glycoprotein 3
  • C3 Proaccelerator 3
  • C3 Proactivator 3
  • EC 3.4.21 63
  • FBI12 3
  • H2-Bf 3
  • CFAB 3
  • FB 3

External Ids for CFB Gene

Previous HGNC Symbols for CFB Gene

  • BFD
  • BF

Previous GeneCards Identifiers for CFB Gene

  • GC06P032022
  • GC06P031917
  • GC06P031704
  • GC06P031931

Summaries for CFB Gene

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 hemolytic uremic syndrome, atypical 4 and complement factor b deficiency. Among its related pathways are Complement and coagulation cascades and Staphylococcus aureus infection. GO annotations related to this gene include serine-type endopeptidase activity and complement binding. An important paralog of this gene is ENSG00000244255.

UniProtKB/Swiss-Prot for CFB Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFB Gene

Genomics for CFB Gene

Regulatory Elements for CFB Gene

Genomic Location for CFB Gene

Start:
31,945,650 bp from pter
End:
31,952,084 bp from pter
Size:
6,435 bases
Orientation:
Plus strand

Genomic View for CFB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for CFB Gene

  • Protein details for CFB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00751-CFAB_HUMAN
    Recommended name:
    Complement factor B
    Protein Accession:
    P00751
    Secondary Accessions:
    • B0QZQ6
    • O15006
    • Q29944
    • Q53F89
    • Q5JP67
    • Q5ST50
    • Q96HX6
    • Q9BTF5
    • Q9BX92

    Protein attributes for CFB Gene

    Size:
    764 amino acids
    Molecular mass:
    85533 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CFB Gene

    Alternative splice isoforms for CFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFB Gene

Proteomics data for CFB Gene at MOPED

Post-translational modifications for CFB Gene

  • Glycosylation at Asn122, Asn142, Asn285, Lys291, and Asn378
  • Modification sites at PhosphoSitePlus

Other Protein References for CFB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CFB (Complement Factor B)

Domains for CFB Gene

Gene Families for CFB Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P00751

UniProtKB/Swiss-Prot:

CFAB_HUMAN :
  • P00751
Domain:
  • The unliganded VWA domain has an inactive locked conformation whereby the scissile Arg-259 Lys-260 bond is protected from proteolytic activation.
  • Contains 1 peptidase S1 domain.
  • Contains 3 Sushi (CCP/SCR) domains.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CFB: view

Function for CFB Gene

Molecular function for CFB Gene

UniProtKB/Swiss-Prot CatalyticActivity: 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
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for CFB Gene

Gene Ontology (GO) - Molecular Function for CFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding TAS 11367526
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity TAS --
genes like me logo Genes that share ontologies with CFB: view
genes like me logo Genes that share phenotypes with CFB: view

Animal Models for CFB Gene

MGI Knock Outs for CFB:

Animal Model Products

miRNA for CFB Gene

miRTarBase miRNAs that target CFB

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFB

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CFB Gene

Localization for CFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CFB Gene COMPARTMENTS Subcellular localization image for CFB gene
Compartment Confidence
extracellular 5
plasma membrane 4
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CFB: view

Pathways for CFB Gene

genes like me logo Genes that share pathways with CFB: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006957 complement activation, alternative pathway TAS --
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with CFB: view

Compounds for CFB Gene

(2) Drugbank Compounds for CFB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-Guanidinobenzoic Acid
target
Diisopropylphosphono Group
target

(5) Novoseek inferred chemical compound relationships for CFB Gene

Compound -log(P) Hits PubMed IDs
serine 43.3 9
agarose 35.5 2
cellulose acetate 31.8 1
polyacrylamide 13.3 2
glucose 0 1
genes like me logo Genes that share compounds with CFB: view

Transcripts for CFB Gene

Unigene Clusters for CFB Gene

Complement factor B:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFB

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFB Gene

No ASD Table

Relevant External Links for CFB Gene

GeneLoc Exon Structure for
CFB
ECgene alternative splicing isoforms for
CFB

Expression for CFB Gene

mRNA expression in normal human tissues for CFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFB Gene

This gene is overexpressed in Liver (32.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFB Gene

SOURCE GeneReport for Unigene cluster for CFB Gene Hs.69771

genes like me logo Genes that share expressions with CFB: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CFB Gene

Orthologs for CFB Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFB 35
  • 99.3 (n)
  • 98.82 (a)
CFB 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CFB 35
  • 83.79 (n)
  • 79.5 (a)
CFB 36
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 48 (a)
OneToMany
CFB 35
  • 84.67 (n)
  • 81.52 (a)
mouse
(Mus musculus)
Mammalia Cfb 35
  • 83.88 (n)
  • 84.19 (a)
Cfb 16
Cfb 36
  • 83 (a)
ManyToMany
Gm20547 36
  • 50 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cfb 35
  • 83.91 (n)
  • 84.7 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491419 35
  • 51.57 (n)
  • 42.83 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:158446 35
  • 50.64 (n)
  • 40.71 (a)
zgc:158446 36
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
Species with no ortholog for CFB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFB Gene

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

Paralogs for CFB Gene

Paralogs for CFB Gene

Selected SIMAP similar genes for CFB Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CFB: view

Variants for CFB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CFB Gene

P00751-CFAB_HUMAN
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

Sequence variations from dbSNP and Humsavar for CFB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs12614 Benign, - 31,946,402(+) TGGCC(C/T)GGCCC reference, missense
rs512559 -- 31,948,285(-) GAGGC(C/T)CTCAG intron-variant
rs537160 -- 31,948,623(-) TCAAC(C/T)TTTGA intron-variant
rs541862 -- 31,949,174(-) TACAC(A/G)TGGCA intron-variant
rs641153 Pathogenic, - 31,946,403(-) GGGGC(A/C/T)GGGCC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for CFB Gene

Variant ID Type Subtype PubMed ID
dgv1928e1 CNV Complex 17122850
nsv428141 CNV Gain+Loss 18775914
dgv1929e1 CNV Complex 17122850
nsv830628 CNV Loss 17160897
nsv884512 CNV Gain 21882294
nsv819433 CNV Loss 19587683

Relevant External Links for CFB Gene

HapMap Linkage Disequilibrium report
CFB
Human Gene Mutation Database (HGMD)
CFB

Disorders for CFB Gene

(3) OMIM Diseases for CFB Gene (138470)

UniProtKB/Swiss-Prot

CFAB_HUMAN
  • 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. {ECO:0000269 PubMed:17182750, ECO:0000269 PubMed:20513133}. 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.
  • Complement factor B deficiency (CFBD) [MIM:615561]: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {ECO:0000269 PubMed:24152280}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CFB Gene

(12) Novoseek inferred disease relationships for CFB Gene

Disease -log(P) Hits PubMed IDs
uremic syndrome 50.2 2
lupus nephritis 17.3 1
diabetes mellitus insulin-dependent 17.3 1
hepatitis b 0.395 1
virus infection 0 1

Relevant External Links for CFB

GeneTests
CFB
GeneReviews
CFB
Genetic Association Database (GAD)
CFB
Human Genome Epidemiology (HuGE) Navigator
CFB
genes like me logo Genes that share disorders with CFB: view

Publications for CFB Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga T.K. … Smith R.J.H. (Hum. Mutat. 2010) 3 4 23 48
  2. Allotyping human complement factor B in Asian Indian type 1 diabetic patients. (PMID: 19000152) Kumar N. … Mehra N.K. (Tissue Antigens 2008) 3 23 48
  3. Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. (PMID: 19001225) Ferrara D.C. … Allikmets R. (Arch. Ophthalmol. 2008) 3 23 48
  4. Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. (PMID: 19169232) Farwick A. … Hense H.W. (Eye (Lond) 2009) 3 23 48
  5. Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. (PMID: 19187590) Chu J. … Dong F.T. (Chin. Med. J. 2008) 3 23 48

Products for CFB Gene

Sources for CFB Gene

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