Gene
cfb
- ID
- ZDB-GENE-980526-487
- Name
- complement factor B
- Symbol
- cfb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase activity. Involved in response to bacterium. Predicted to localize to extracellular region. Human ortholog(s) of this gene implicated in several diseases, including acute lymphoblastic leukemia; atypical hemolytic-uremic syndrome; eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Is expressed in liver. Orthologous to human CFB (complement factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| age related macular degeneration 14 | Alliance | {Macular degeneration, age-related, 14, reduced risk of} | 615489 |
| ?Complement factor B deficiency | 615561 | ||
| {Hemolytic uremic syndrome, atypical, susceptibility to, 4} | 612924 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR018114 | Serine proteases, trypsin family, histidine active site |
| Domain | IPR000436 | Sushi/SCR/CCP domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Domain | IPR002035 | von Willebrand factor, type A |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
| Family | IPR011360 | Complement B/C2 |
| Homologous_superfamily | IPR009003 | Peptidase S1, PA clan |
| Homologous_superfamily | IPR035976 | Sushi/SCR/CCP superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
| Homologous_superfamily | IPR043504 | Peptidase S1, PA clan, chymotrypsin-like fold |
Domain Details Per Protein
| Protein | Length | Complement B/C2 | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, histidine active site | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QFC2
|
760 | ||||||||||
|
UniProtKB:F1R886
|
761 |
Interactions and Pathways
No data available
Plasmids
No data available