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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CFHR4
complement factor H related 4
Chromosome 1 · 1q31.3
NCBI Gene: 10877Ensembl: ENSG00000134365.16HGNC: HGNC:16979UniProt: Q92496
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
complement component C3b bindingcomplement activationGO:0005615lipid carrier activityage-related macular degenerationmacular degenerationretinopathycomplement deficiency
✦AI Summary

CFHR4 (complement factor H-related 4) is a plasma glycoprotein involved in complement regulation and C3b binding 1. Unlike factor H, CFHR4 lacks strong complement inhibitory activity but exhibits regulatory functions 1. CFHR4 binds native pentameric C-reactive protein in a calcium-dependent manner and facilitates CRP recruitment to necrotic cells, suggesting a role in opsonization 2. Genetically, CFHR4 alterations within the CFHR-Factor H gene cluster are associated with kidney diseases including C3 glomerulopathy and atypical hemolytic uremic syndrome 3. In hepatocellular carcinoma (HCC), CFHR4 expression is significantly downregulated in tumor tissue compared to normal liver 4. Low CFHR4 expression correlates with advanced TNM stage, higher histological grade, elevated AFP levels, and poor prognosis 45. CFHR4 inversely correlates with certain immune cell infiltrates (Th2, NK CD56bright, Tfh cells) and positively correlates with others (dendritic cells, neutrophils, Th17 cells) 5. CFHR4-positive hepatocytes are associated with reduced therapeutic benefit in advanced HCC treated with combination chemotherapy 6. Additionally, CFHR4 appears dysregulated in non-alcoholic fatty liver disease and acute cerebral infarction, suggesting broader metabolic and inflammatory roles 78.

Sources cited
1
CFHR4 is a plasma glycoprotein related to factor H, binds C3b, and has weak complement inhibitory activity
PMID: 24218263
2
CFHR4 binds native pentameric CRP in calcium-dependent manner and facilitates CRP binding to necrotic cells
PMID: 19084272
3
CFHR4 genetic alterations in the CFHR-Factor H gene cluster are associated with C3 glomerulopathy and atypical hemolytic uremic syndrome
PMID: 31980588
4
CFHR4 is downregulated in HCC tissue and low expression correlates with advanced TNM stage, higher grade, elevated AFP, and poor prognosis
PMID: 36338737
5
CFHR4 expression inversely correlates with Th2, NK CD56bright and Tfh cells but positively correlates with dendritic cells, neutrophils and Th17 cells in HCC
PMID: 35812416
6
CFHR4+ hepatocyte subtype is associated with reduced clinical benefits in advanced HCC treatment
PMID: 37819944
7
CFHR4 is part of a proteomic signature for identifying steatohepatitis in NAFLD
PMID: 37037945
8
CFHR4 is differentially expressed in acute cerebral infarction and serves as a biomarker in the complement and coagulation cascade pathway
PMID: 40517620
Disease Associationsⓘ20
age-related macular degenerationOpen Targets
0.51Moderate
macular degenerationOpen Targets
0.43Moderate
retinopathyOpen Targets
0.42Moderate
complement deficiencyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.27Weak
kidney diseaseOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.10Weak
degeneration of macula and posterior poleOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
COVID-19Open Targets
0.09Suggestive
wet macular degenerationOpen Targets
0.04Suggestive
maculopapular eruptionOpen Targets
0.03Suggestive
lymphatic system diseaseOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
meningococcal infectionOpen Targets
0.02Suggestive
intrahepatic cholestasisOpen Targets
0.02Suggestive
Oral ulcerOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFBProtein interaction100%C3Protein interaction100%CRPProtein interaction100%MYBPHProtein interaction100%CFPProtein interaction100%C4BProtein interaction77%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CFHR4CFBC3CRPMYBPHCFPC4B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q92496
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.78–1.20]
RankingsWhere CFHR4 stands among ~20K protein-coding genes
  • #11,304of 20,598
    Most Researched33
  • #12,657of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedCFHR4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A proteo-transcriptomic map of non-alcoholic fatty liver disease signatures.
PMID: 37037945
Nat Metab · 2023
1.00
2
PMID: 20301541
0.90
3
PMID: 31980588
J Am Soc Nephrol · 2020
0.80
4
Factor H-related proteins.
PMID: 24218263
Methods Mol Biol · 2014
0.70
5
Lenvatinib, Toripalimab plus FOLFOX Chemotherapy in Hepatocellular Carcinoma Patients with Extrahepatic Metastasis: A Biomolecular Exploratory, Phase II Trial (LTSC).
PMID: 37819944
Clin Cancer Res · 2023
0.60