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Aliases for CFHR3 Gene

Aliases for CFHR3 Gene

  • Complement Factor H Related 3 2 3
  • Complement Factor H-Related 3 2 3 5
  • H Factor-Like Protein 3 3 4
  • DOWN16 3 4
  • CFHL3 3 4
  • FHR-3 3 4
  • FHR3 3 4
  • H Factor-Like 4 3
  • HLF4 3

External Ids for CFHR3 Gene

Previous HGNC Symbols for CFHR3 Gene

  • CFHL3

Previous GeneCards Identifiers for CFHR3 Gene

  • GC01P195011

Summaries for CFHR3 Gene

Entrez Gene Summary for CFHR3 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]

GeneCards Summary for CFHR3 Gene

CFHR3 (Complement Factor H Related 3) is a Protein Coding gene. Diseases associated with CFHR3 include Hemolytic Uremic Syndrome, Atypical 1 and Macular Degeneration, Age-Related, 1. Among its related pathways are Immune System and Creation of C4 and C2 activators. An important paralog of this gene is ENSG00000276911.

UniProtKB/Swiss-Prot for CFHR3 Gene

  • Might be involved in complement regulation.

Gene Wiki entry for CFHR3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFHR3 Gene

Genomics for CFHR3 Gene

Regulatory Elements for CFHR3 Gene

Enhancers for CFHR3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFHR3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFHR3 Gene

196,774,795 bp from pter
196,795,406 bp from pter
20,612 bases
Plus strand

Genomic View for CFHR3 Gene

Genes around CFHR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFHR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFHR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFHR3 Gene

Proteins for CFHR3 Gene

  • Protein details for CFHR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement factor H-related protein 3
    Protein Accession:
    Secondary Accessions:
    • B4DPR0
    • Q9UJ16

    Protein attributes for CFHR3 Gene

    330 amino acids
    Molecular mass:
    37323 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFHR3 Gene


neXtProt entry for CFHR3 Gene

Proteomics data for CFHR3 Gene at MOPED

Post-translational modifications for CFHR3 Gene

  • Glycosylation at Asn 108, Asn 185, Asn 205, and Asn 309
  • Modification sites at PhosphoSitePlus

Other Protein References for CFHR3 Gene

No data available for DME Specific Peptides for CFHR3 Gene

Domains & Families for CFHR3 Gene

Gene Families for CFHR3 Gene

Protein Domains for CFHR3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 5 Sushi (CCP/SCR) domains.
  • Contains 5 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with CFHR3: view

Function for CFHR3 Gene

Molecular function for CFHR3 Gene

UniProtKB/Swiss-Prot Function:
Might be involved in complement regulation.

Phenotypes for CFHR3 Gene

genes like me logo Genes that share phenotypes with CFHR3: view

Human Phenotype Ontology for CFHR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CFHR3 Gene

Localization for CFHR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR3 Gene


Subcellular locations from

Jensen Localization Image for CFHR3 Gene COMPARTMENTS Subcellular localization image for CFHR3 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for CFHR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CFHR3: view

Pathways & Interactions for CFHR3 Gene

genes like me logo Genes that share pathways with CFHR3: view

Pathways by source for CFHR3 Gene

Interacting Proteins for CFHR3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000356395 Q02985-FHR3_HUMAN for CFHR3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CFHR3 Gene


No data available for SIGNOR curated interactions for CFHR3 Gene

Drugs & Compounds for CFHR3 Gene

No Compound Related Data Available

Transcripts for CFHR3 Gene

mRNA/cDNA for CFHR3 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CFHR3 Gene

Complement factor H-related 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFHR3 Gene

No ASD Table

Relevant External Links for CFHR3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFHR3 Gene

mRNA expression in normal human tissues for CFHR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFHR3 Gene

This gene is overexpressed in Liver (x51.1).

Protein differential expression in normal tissues from HIPED for CFHR3 Gene

This gene is overexpressed in Serum (45.3), Plasma (10.7), and Skin (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFHR3 Gene

SOURCE GeneReport for Unigene cluster for CFHR3 Gene Hs.709217

mRNA Expression by UniProt/SwissProt for CFHR3 Gene

Tissue specificity: Expressed by the liver and secreted in plasma.
genes like me logo Genes that share expression patterns with CFHR3: view

Primer Products

No data available for Protein tissue co-expression partners for CFHR3 Gene

Orthologs for CFHR3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CFHR3 35
  • 61.06 (n)
  • 48.6 (a)
-- 36
  • 17 (a)
-- 36
  • 13 (a)
-- 36
  • 23 (a)
CFH 36
  • 14 (a)
(Canis familiaris)
Mammalia -- 36
  • 12 (a)
-- 36
  • 12 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
(Mus musculus)
Mammalia Cfh 36
  • 12 (a)
Cfhr1 36
  • 37 (a)
Cfhr2 36
  • 39 (a)
Cfhr3 36
  • 34 (a)
Gm4788 36
  • 16 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 12 (a)
(Pan troglodytes)
Mammalia CFHR3 36
  • 91 (a)
(Gallus gallus)
Aves -- 36
  • 9 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
(Danio rerio)
Actinopterygii cfhl4 36
  • 16 (a)
Species with no ortholog for CFHR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFHR3 Gene

Gene Tree for CFHR3 (if available)
Gene Tree for CFHR3 (if available)

Paralogs for CFHR3 Gene

Paralogs for CFHR3 Gene

(7) SIMAP similar genes for CFHR3 Gene using alignment to 3 proteins: Pseudogenes for CFHR3 Gene

genes like me logo Genes that share paralogs with CFHR3: view

Variants for CFHR3 Gene

Sequence variations from dbSNP and Humsavar for CFHR3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17575274 - 196,779,314(+) ACATT(C/T)ATTGC nc-transcript-variant, reference, missense
rs476521 -- 196,777,983(-) TTTTT(A/T)AACAG intron-variant
rs364320 -- 196,776,311(+) TGGGT(C/T)GCACC intron-variant
rs366976 -- 196,791,310(-) TTTGA(A/G)TTGTG intron-variant
rs367684 -- 196,791,143(-) GTTTC(A/G)TTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFHR3 Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
dgv164e1 CNV Complex 17122850
nsv428290 CNV Gain+Loss 18775914
esv743 CNV CNV 17122850
nsv872965 CNV Loss 21882294
nsv469810 CNV Loss 16826518
nsv471614 CNV Gain+Loss 15918152
dgv165e1 CNV Complex 17122850
dgv166e1 CNV Complex 17122850
nsv872985 CNV Loss 21882294
dgv498n71 CNV Loss 21882294
nsv826008 CNV Loss 20364138
dgv167e1 CNV Complex 17122850
dgv168e1 CNV Complex 17122850
esv26552 CNV Gain+Loss 19812545
nsv8691 CNV Gain+Loss 18304495
dgv499n71 CNV Gain+Loss 21882294
dgv500n71 CNV Loss 21882294
dgv501n71 CNV Gain+Loss 21882294
nsv517662 CNV Gain+Loss 19592680
esv1001500 CNV Deletion 20482838
dgv54e201 CNV Deletion 23290073
dgv503n71 CNV Loss 21882294
nsv819563 CNV Gain 19587683
nsv436214 CNV Deletion 17901297
nsv820836 CNV Deletion 20802225
nsv3999 CNV Loss 18451855
nsv873003 CNV Gain 21882294
nsv498700 CNV Loss 21111241
dgv87e199 CNV Deletion 23128226
nsv433191 CNV Loss 18776910
dgv504n71 CNV Loss 21882294
esv2421560 CNV Deletion 20811451
esv2630480 CNV Deletion 19546169
esv2652513 CNV Loss 19546169
dgv8e180 CNV Loss 20482838
nsv442555 CNV CNV 18776908
dgv169e1 CNV Complex 17122850
dgv170e1 CNV Complex 17122850
dgv11e55 CNV Loss 17911159
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
essv23762 CNV CNV 17122850
dgv13e55 CNV Gain 17911159
nsv873013 CNV Gain+Loss 21882294
dgv505n71 CNV Loss 21882294
dgv506n71 CNV Gain 21882294
nsv437262 CNV Loss 16327808
esv2721017 CNV Deletion 23290073
nsv514031 CNV Loss 21397061
esv29961 CNV Gain 18421352
esv33169 CNV Gain+Loss 17666407
nsv471352 CNV Duplication 19718026
nsv482141 CNV Gain 20164927
dgv507n71 CNV Gain+Loss 21882294
dgv88e199 CNV Deletion 23128226

Variation tolerance for CFHR3 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFHR3 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFHR3 Gene

Disorders for CFHR3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CFHR3 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome
  • cfhr1 and cfhr3-related ahus1
atypical hemolytic-uremic syndrome with anti-factor h antibodies
  • atypical hus with anti-factor h antibodies
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CFHR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFHR3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFHR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFHR3 Gene

Publications for CFHR3 Gene

  1. A novel short consensus repeat-containing molecule is related to human complement factor H. (PMID: 8428964) Skerka C. … Zipfel P.F. (J. Biol. Chem. 1993) 2 3 4 23 67
  2. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. (PMID: 19861685) Moore I. … Marchbank K.J. (Blood 2010) 3 23
  3. Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. (PMID: 19553609) Schmid-Kubista K.E. … Edwards A.O. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23
  4. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. (PMID: 18006700) JA^zsi M. … Skerka C. (Blood 2008) 3 23
  5. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. (PMID: 17367211) Zipfel P.F. … Skerka C. (PLoS Genet. 2007) 3 23

Products for CFHR3 Gene

Sources for CFHR3 Gene