Gene
cfh
- ID
- ZDB-GENE-050208-661
- Name
- complement factor H
- Symbol
- cfh Nomenclature History
- Previous Names
-
- im:7147412
- si:ch211-207o17.2
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Is expressed in several structures, including digestive system; eye; fin; gill; and heart. Orthologous to human CFH (complement factor H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147412 (1 image)
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 4 | Alliance | {Macular degeneration, age-related, 4} | 610698 |
| basal laminar drusen | Alliance | Basal laminar drusen | 126700 |
| Complement factor H deficiency | 609814 | ||
| {Hemolytic uremic syndrome, atypical, susceptibility to, 1} | 235400 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Complement System Regulators and Virion Entry Mediators | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|
|
UniProtKB:E2FHP4
|
901 |
Interactions and Pathways
No data available
Plasmids
No data available