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 enable serine-type endopeptidase activity. Acts upstream of or within defense response to bacterium and immune response. Predicted to be located in extracellular region. Is expressed in liver. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. 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