CFHR2 Gene Summary [Human]
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | CFHR2 |
| Official Name | complement factor H related 2 [Source:HGNC Symbol;Acc:HGNC:4890] |
| Ensembl ID | ENSG00000080910 |
| Bio databases IDs | |
| Aliases | complement factor H related 2 |
| Synonyms | CFHL2, complement factor H related 2, FHR2, H factor-like 3, HFL3 |
| 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 CFHR2 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)
- identical protein binding
- SUSHI repeat
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
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFHR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- complement activation
- cytolysis by host of symbiont cells
- negative regulation of protein binding
Cellular Component
Where in the cell the gene product is active
- extracellular space
- macromolecular complex
- extracellular region
Molecular Function
What the gene product does at the molecular level
- complement component C3b binding
- identical protein binding
- protein binding