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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]
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 Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and complement binding. An important paralog of this gene is ENSG00000244255.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001848 | complement binding | TAS | 11367526 |
GO:0004252 | serine-type endopeptidase activity | IEA,TAS | -- |
GO:0005515 | protein binding | IPI | 19255449 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008236 | serine-type peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
GO:0072562 | blood microparticle | HDA | 22516433 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Complement Pathway |
Complement Pathway
.62
|
Alternative Complement Pathway
.01
|
2 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
|
|
3 | Creation of C4 and C2 activators | ||
4 | Complement and coagulation cascades | ||
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0006956 | complement activation | IEA,TAS | -- |
GO:0006957 | complement activation, alternative pathway | TAS | -- |
GO:0030449 | regulation of complement activation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | Target | 1687 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
4-guanidinobenzoic acid | Experimental | Pharma | Target | 0 | ||
Diisopropylphosphono Group | Experimental | Pharma | Target | 0 | ||
MLN2222 | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CFB 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | CFB 30 |
|
||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cfb 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cfb 30 17 31 |
|
ManyToMany | |
Gm20547 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | CFB 30 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491419 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:158446 30 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
903818 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,949,439(+) |
C/T NM_001710.6(CFB):c.1290C>T (p.Val430=) |
SYNONYMOUS | |
903887 | Benign: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,241(+) |
T/G NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) |
MISSENSE | |
903888 | Conflicting Interpretations: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,254(+) |
G/A NM_001710.6(CFB):c.1956+10G>A |
INTRON | |
903889 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,453(+) |
C/T NM_001710.6(CFB):c.2069C>T (p.Ala690Val) |
MISSENSE | |
904798 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,946,023(+) |
T/C NC_000006.12:g.31946023T>C |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemolytic uremic syndrome, atypical 4 |
|
|
complement factor b deficiency |
|
|
macular degeneration, age-related, 14 |
|
|
atypical hemolytic uremic syndrome with complement gene abnormality |
|
|
hemolytic uremic syndrome, atypical 1 |
|