CFHR3
Complement factor H-related protein 3
Also known as: CFHL3, DOWN16, FHR-3, FHR3, FHR3_HUMAN, HLF4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q02985
- Gene
- CFHR3
- Ensembl
- ENSG00000116785
- Chromosome
- 1
- Canonical length
- 330 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted to blood
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
330 residues, UniProt reviewed canonical sequence.
>Q02985|CFHR3
1 MLLLINVILT LWVSCANGQV KPCDFPDIKH GGLFHENMRR PYFPVAVGKY YSYYCDEHFE
61 TPSGSYWDYI HCTQNGWSPA VPCLRKCYFP YLENGYNQNY GRKFVQGNST EVACHPGYGL
121 PKAQTTVTCT EKGWSPTPRC IRVRTCSKSD IEIENGFISE SSSIYILNKE IQYKCKPGYA
181 TADGNSSGSI TCLQNGWSAQ PICINSSEKC GPPPPISNGD TTSFLLKVYV PQSRVEYQCQ
241 PYYELQGSNY VTCSNGEWSE PPRCIHPCII TEENMNKNNI KLKGRSDRKY YAKTGDTIEF
301 MCKLGYNANT SILSFQAVCR EGIVEYPRCELocalizationUniProt · AlphaFold · HPA
Whether an antibody against CFHR3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 367 nTPM
Expression across tissuesHPA
Tissue
- liver: 367 nTPM
- spleen: 0.4 nTPM
- blood vessel: 0.3 nTPM
- kidney: 0.3 nTPM
- urinary bladder: 0.3 nTPM
- adipose tissue: 0.2 nTPM
Single-cell type
- hepatocytes: 1.1 nCPM
- papillary tip epithelial cells: 0.5 nCPM
- endometrial ciliated cells: 0.2 nCPM
- renal connecting tubule cells: 0.2 nCPM
- bergmann glia: 0.1 nCPM
- distal convoluted tubule cells: 0.1 nCPM
Immune cell
- basophil: 0.2 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- white matter: 2.9 nTPM
- cerebral cortex: 2.3 nTPM
- basal ganglia: 2.2 nTPM
- amygdala: 2.1 nTPM
- cerebellum: 2.1 nTPM
- hippocampal formation: 2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CFHR3.
Disease | AllUniProt
Conditions CFHR3 is implicated in, by any mechanism.
- Hemolytic uremic syndrome, atypical, 1 (AHUS1) MIM:235400
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 123 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on CFHR3 was assayed in.
- rheumatoid arthritis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.6
- gnomAD pLI
- 0
- gnomAD missense Z
- 0
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CFHR3 as an antibody target. Whether an autoantibody or antibody against CFHR3 could matter depends on whether native CFHR3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CFHR3 is annotated as secreted, so native CFHR3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label CFHR3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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