CFHR3 Gene Summary [Human]
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | CFHR3 |
| Official Name | complement factor H related 3 [Source:HGNC Symbol;Acc:HGNC:16980] |
| Ensembl ID | ENSG00000116785 |
| Bio databases IDs | |
| Aliases | complement factor H related 3 |
| Synonyms | CFHL3, complement factor H related 3, DOWN16, FHR-3, HLF4 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CFHR3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CCP
- protein binding
- Sushi repeat (SCR repeat)
- SUSHI repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- colorectal cancer
- hepatocellular carcinoma
- idiopathic membranous nephropathy
- lepromatous leprosy
- factor H-associated hemolytic uremic syndrome
- meningococcal infection
- colorectal adenoma
- colorectal adenoma formation
role in cell
- expression in
- phosphorylation in
- molecular cleavage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFHR3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- complement activation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- blood microparticle
Molecular Function
What the gene product does at the molecular level
- complement component C3b binding
- protein binding