Version: 8.0.0Date: Tue Jan 28 2025
Gene
CFB
- Species
- Homo sapiens
- Symbol
- CFB
- Name
- complement factor B
- Synonyms
- AHUS4
- ARMD14
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable complement binding activity and serine-type endopeptidase activity. Predicted to be involved in complement activation and response to bacterium. Predicted to act upstream of or within complement activation, alternative pathway. Located in blood microparticle and extracellular exosome. Implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Biomarker of several diseases, including autoimmune disease (multiple); boutonneuse fever; end stage renal disease; erythema nodosum; and glomerulonephritis (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46393
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:31945650...31952086 + (6.44 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.