CFB complement factor B
Gene ID: 629, updated on 5-Mar-2024Gene type: protein coding
Also known as: BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14
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- Go to complete Gene record for CFB
- Go to Variation Viewer for CFB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 14 | See labs |
| Atypical hemolytic-uremic syndrome with B factor anomaly | See labs |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. GeneReviews: Not available | |
| Complement factor b deficiency | See labs |
| Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. GeneReviews: Not available | |
| Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. GeneReviews: Not available | |
| Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. GeneReviews: Not available | |
| Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. GeneReviews: Not available | |
| Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). GeneReviews: Not available | |
| Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31946095..31952084)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CFB database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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