CFHR2: Complement Factor H Related 2
Gene encoding a complement regulator implicated in atypical hemolytic uremic syndrome and age-related macular degeneration
Gene Information Card
| Symbol | CFHR2 |
|---|---|
| Full Name | Complement Factor H Related 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 3080 ncbi.nlm.nih.gov/gene/3080 |
| Ensembl ID | ENSG00000100985 |
| UniProt ID | P36980 |
| OMIM ID | 600889 |
| HGNC ID | 4885 |
| Aliases | FHR2, HFL3, CFHL2, FHR-2 |
Description
CFHR2 (Complement Factor H Related 2) is a protein-coding gene located on chromosome 1q31.3. It encodes a member of the complement factor H-related protein family, which are secreted glycoproteins involved in complement regulation. CFHR2 binds to C3b and acts as a cofactor for factor I-mediated cleavage, modulating the alternative pathway of complement. Genetic variants in CFHR2 are associated with atypical hemolytic uremic syndrome (aHUS) and age-related macular degeneration (AMD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atypical Hemolytic Uremic Syndrome (aHUS) | Dysregulation of the alternative complement pathway due to CFHR2 mutations or copy number variations | ClinVar, OMIM |
| Age-Related Macular Degeneration (AMD) | Altered complement regulation leading to chronic inflammation in the retina | NCBI Gene, OMIM |
| C3 Glomerulopathy | Abnormal complement activation and deposition in renal glomeruli | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 5.1 | Low |
| Lung | 2.8 | Low |
| Heart | 1.5 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 3.4 | Lung carcinoma cells |
| K562 | 0.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.482G>A (p.Arg161Gln) | Missense | 0.01% | Altered C3b binding affinity |
| c.845C>T (p.Pro282Leu) | Missense | 0.005% | Reduced complement regulatory activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair C3b binding or cofactor activity, leading to complement overactivation (e.g., p.Arg161Gln).
Gain of Function (GOF)
Not well documented for CFHR2; gain-of-function is more commonly associated with CFH or CFHR1.
Dominant Negative (DN)
Rare; some missense variants may interfere with wild-type CFHR2 or CFH function.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • complement activation (GO:0007338) | • protein binding (GO:0005515) |
| • cell killing (GO:0001906) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Alternative complement pathway (Reactome: R-HSA-173736)
Protein Summary
CFHR2 encodes a 270-amino acid secreted glycoprotein (UniProt P36980) that belongs to the factor H-related protein family. It contains five short consensus repeats (SCRs) and binds to C3b, acting as a cofactor for factor I-mediated cleavage. CFHR2 is primarily expressed in the liver and circulates in plasma. It modulates the alternative complement pathway by competing with factor H for C3b binding, thereby fine-tuning complement activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFHR2 Knockout HEK293 Cell Line | EDJ-KQ4859 | Human | 3080 | Details Get a Quote |
| CFHR2 Knockout HeLa Cell Line | EDJ-KQ53512 | Human | 3080 | Details Get a Quote |
| CFHR2 Knockout A-549 Cell Line | EDJ-KQ61981 | Human | 3080 | Details Get a Quote |
| CFHR2 Knockout HCT 116 Cell Line | EDJ-KQ70463 | Human | 3080 | Details Get a Quote |
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