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Aliases for CFB Gene

Aliases for CFB Gene

  • Complement Factor B 2 3 5
  • B-Factor, Properdin 2 3
  • Properdin Factor B 3 4
  • C3/C5 Convertase 3 4
  • EC 3.4.21.47 4 61
  • PBF2 3 4
  • BFD 3 4
  • GBG 3 4
  • BF 3 4
  • Glycine-Rich Beta-Glycoprotein 3
  • Glycine-Rich Beta Glycoprotein 4
  • C3 Proaccelerator 3
  • C3 Proactivator 3
  • EC 3.4.21 61
  • ARMD14 3
  • AHUS4 3
  • FBI12 3
  • H2-Bf 3
  • CFAB 3
  • CFBD 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 Innate Immune System and Complement Pathway. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFB Gene

Genomics for CFB Gene

Regulatory Elements for CFB Gene

Enhancers for CFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G031861 1.2 ENCODE 11.2 -81.5 -81535 4.5 MLX CREB3L1 AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 LSM2 LY6G5B MICA PPT2 C4A GTF2H4 DDX39B STK19B LY6G5C PRRT1
GH06G032089 0.5 dbSUPER 10.6 +144.2 144177 0.1 BCOR KDM1A ZNF623 SKIV2L TNXB ATF6B FKBPL PRRT1 PPT2 EGFL8 AGPAT1 RNF5 CFB
GH06G032524 0.8 FANTOM5 Ensembl dbSUPER 5.1 +579.0 579009 0.3 HLA-DRB1 HLA-DRB5 HLA-DQA2 HLA-DRB6 HLA-DQA1 SYNGAP1 CFB PSMB8 HLA-DMA HLA-DMB
GH06G031944 1.4 Ensembl ENCODE 0.7 +1.9 1889 6.8 HDGF FOXA2 PKNOX1 MLX CREB3L1 ARNT ARID4B DMAP1 YY1 SLC30A9 SKIV2L STK19B HLA-DRB1 ATF6B C4A HLA-DQA2 C2 STK19 EHMT2 ZBTB12
GH06G031952 0.9 ENCODE 0.4 +6.9 6889 0.2 ELF3 PKNOX1 RB1 ARID4B DMAP1 ZNF2 RAD21 RARA RFX5 ZNF143 MIR1236 CFB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFB on UCSC Golden Path with GeneCards custom track

Genomic Location for CFB Gene

Chromosome:
6
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

Genes around CFB on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for CFB Gene

P00751:
  • YNINGKK
  • NPGIPIGTRKVG
  • YVFGVGPLVNQ
  • YEDHKLKSGTNTK
  • VLTAAHC
  • VTYHCSRGL
  • ALIKLKNK
  • GDSGGPL
  • LRGSANRTCQ
  • YGLVTYAT
  • RPICLPCT
  • GIPEFYDYDVAL
  • MTDGLHNMGG
  • PGEQQKRKIVLDPSGSMNIYLVLDGSDS
  • KLKNKLKYGQT
  • NINALASKKD
  • ALQAVYSMMSW
  • CPSGFYPYP
  • QYRLEDSVTY
  • LTAAHCF
  • QVLPWLKEKLQ
  • HVFKVKDME
  • VFYQMIDE
  • RDFHINL
  • RPICLPCTEGTTRALRLP
  • DFENGEYWPR
  • GTRKVGSQYRLED
  • LCGMVWEH
  • CQEGGSWSGTEPSCQDSFMYD
  • SEVVTPRFLCTGGV
  • RPSKGHESCMGA
  • WNRTRHVII
  • IRPICLP

Post-translational modifications for CFB Gene

  • Glycosylation at posLast=122122, Asn142, posLast=285285, posLast=291291, and posLast=378378
  • Modification sites at PhosphoSitePlus

Other Protein References for CFB Gene

Domains & Families for CFB Gene

Gene Families for CFB Gene

Graphical View of Domain Structure for InterPro Entry

P00751

UniProtKB/Swiss-Prot:

CFAB_HUMAN :
  • The unliganded VWA domain has an inactive locked conformation whereby the scissile Arg-259 Lys-260 bond is protected from proteolytic activation.
  • Belongs to the peptidase S1 family.
Domain:
  • The unliganded VWA domain has an inactive locked conformation whereby the scissile Arg-259 Lys-260 bond is protected from proteolytic activation.
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:0004252 serine-type endopeptidase activity TAS,IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CFB: view
genes like me logo Genes that share phenotypes with CFB: view

Human Phenotype Ontology for CFB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFB Gene

MGI Knock Outs for CFB:

Animal Model Products

CRISPR Products

miRNA for CFB Gene

miRTarBase miRNAs that target CFB

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CFB

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

Localization for CFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFB gene
Compartment Confidence
plasma membrane 5
extracellular 5
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 & Interactions for CFB Gene

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

Pathways by source for CFB Gene

Gene Ontology (GO) - Biological Process for CFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006957 complement activation, alternative pathway TAS --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with CFB: view

No data available for SIGNOR curated interactions for CFB Gene

Drugs & Compounds for CFB Gene

(4) Drugs for CFB Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Guanidinobenzoic Acid Experimental Pharma Target 0
Diisopropylphosphono Group Experimental Pharma Target 0

(3) Additional Compounds for CFB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CFB

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x32.6).

Protein differential expression in normal tissues from HIPED for CFB Gene

This gene is overexpressed in Plasma (14.5), Synovial fluid (13.6), Serum (12.9), and Monocytes (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFB Gene



Protein tissue co-expression partners for CFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFB Gene:

CFB

SOURCE GeneReport for Unigene cluster for CFB Gene:

Hs.69771

Evidence on tissue expression from TISSUES for CFB Gene

  • Liver(4.8)
  • Blood(4.5)
  • Intestine(4.5)
  • Bone marrow(4.3)
  • Kidney(2.3)
  • Eye(2.1)
  • Gall bladder(2.1)
  • Stomach(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • meninges
  • neck
Thorax:
  • heart
  • lung
Abdomen:
  • abdominal wall
  • appendix
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CFB: view

Primer 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 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia CFB 34
  • 84.67 (n)
-- 35
  • 48 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cfb 34
  • 83.91 (n)
mouse
(Mus musculus)
Mammalia Cfb 34 16 35
  • 83.88 (n)
Gm20547 35
  • 50 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia CFB 34 35
  • 83.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 56 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491419 34
  • 51.57 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:158446 34 35
  • 50.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
Species where no ortholog for CFB was found in the sources mined by GeneCards:
  • 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

(4) 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

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.

Sequence variations from dbSNP and Humsavar for CFB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs117905900 other, Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] 31,948,042(+) AACTT(C/G/T)ACAGG reference, synonymous-codon
rs121909748 other, Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] 31,948,443(+) GGGTC(A/G)AAGTG reference, missense
rs144812066 Likely benign, Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] 31,947,807(+) AGACC(A/C/G)TAGAA reference, missense
rs149101394 Likely benign, Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] 31,950,377(+) TGACA(A/G)GGAAC reference, missense
rs200837114 Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924] 31,949,523(+) GATAT(A/G)GAAAA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv428141 CNV gain+loss 18775914
nsv819433 CNV loss 19587683
nsv830628 CNV loss 17160897

Variation tolerance for CFB Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFB Gene

Human Gene Mutation Database (HGMD)
CFB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFB

Disorders for CFB Gene

MalaCards: The human disease database

(19) MalaCards diseases for CFB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 4
  • hemolytic uremic syndrome, atypical, susceptibility to, 4
complement factor b deficiency
  • factor b deficiency
macular degeneration, age-related, 14, reduced risk of
  • age related macular degeneration 14
cfb-related atypical hemolytic-uremic syndrome
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards
Search CFB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CFAB_HUMAN
  • 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.
  • 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.

Relevant External Links for CFB

Genetic Association Database (GAD)
CFB
Human Genome Epidemiology (HuGE) Navigator
CFB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFB
genes like me logo Genes that share disorders with CFB: view

No data available for Genatlas for CFB Gene

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 22 46 64
  2. Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. (PMID: 20157618) McKay G.J. … Silvestri G. (Mol. Vis. 2010) 3 22 46 64
  3. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. (PMID: 19696172) Kaur I. … Chakrabarti S. (Invest. Ophthalmol. Vis. Sci. 2010) 3 22 46 64
  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 22 46 64
  5. Multilocus analysis of age-related macular degeneration. (PMID: 19259132) Bergeron-Sawitzke J. … Dean M. (Eur. J. Hum. Genet. 2009) 3 22 46 64

Products for CFB Gene

Sources for CFB Gene

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