CFHR4 Gene - Complement Factor H Related 4
Gene encoding a member of the complement factor H protein family involved in complement regulation
Gene Information Card
| Symbol | CFHR4 |
|---|---|
| Full Name | Complement Factor H Related 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 10877 ncbi.nlm.nih.gov/gene/10877 |
| Ensembl ID | ENSG00000134365 |
| UniProt ID | Q92496 |
| OMIM ID | 605337 |
| HGNC ID | 4884 |
| Aliases | CFHL4, FHR4, FHR-4 |
Description
CFHR4 (Complement Factor H Related 4) is a protein-coding gene located on chromosome 1q31.3. It encodes a member of the complement factor H (CFH) protein family, which plays a role in the regulation of the complement system, particularly the alternative pathway. The encoded protein is secreted and can bind to C3b, acting as a cofactor for factor I-mediated cleavage. CFHR4 is involved in immune surveillance and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related Macular Degeneration | Dysregulation of complement alternative pathway due to CFHR4 variants | PMID: 20385826 |
| Atypical Hemolytic Uremic Syndrome | Altered complement regulation via CFHR4 mutations | PMID: 21739570 |
| C3 Glomerulopathy | CFHR4 gene rearrangements leading to complement dysregulation | PMID: 22581903 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 3.2 | Low |
| Lung | 1.8 | Low |
| Spleen | 2.1 | Low |
| Blood | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 0.8 | Embryonic kidney cells |
| A549 | 0.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | p.Met1Val; potential loss of start codon |
| c.482C>T | Nonsense | Rare | p.Arg161*; premature stop, likely loss of function |
| c.1024G>A | Missense | Rare | p.Gly342Arg; altered protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not well documented; some missense variants may enhance complement binding
Dominant Negative (DN)
Not reported for CFHR4
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • complement activation (GO:0006956) | • single fertilization (GO:0007338) |
| • regulation of complement activation (GO:0030449) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Alternative complement pathway (Reactome: R-HSA-173736)
Protein Summary
CFHR4 encodes a secreted glycoprotein of the factor H protein family. It contains complement control protein (CCP) domains and binds to C3b, modulating complement activation. The protein is primarily expressed in the liver and circulates in plasma. It may play a role in immune complex clearance and inflammatory regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFHR4 Knockout HEK293 Cell Line | EDJ-KQ3499 | Human | 10877 | Details Get a Quote |
| CFHR4 Knockout HeLa Cell Line | EDJ-KQ55509 | Human | 10877 | Details Get a Quote |
| CFHR4 Knockout A-549 Cell Line | EDJ-KQ63999 | Human | 10877 | Details Get a Quote |
| CFHR4 Knockout HCT 116 Cell Line | EDJ-KQ72450 | Human | 10877 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
