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 transcrip... See more...

Aliases for CFHR3 Gene

Aliases for CFHR3 Gene

  • Complement Factor H Related 3 2 3 5
  • DOWN16 2 3 4
  • FHR-3 2 3 4
  • FHR3 2 3 4
  • Complement Factor H-Related Protein 3 3 4
  • H Factor-Like Protein 3 3 4
  • CFHL3 3 4
  • HLF4 2 3
  • Complement Factor H-Related 3 2
  • H Factor-Like 4 3
  • CFHR3 5

External Ids for CFHR3 Gene

Previous HGNC Symbols for CFHR3 Gene

  • CFHL3

Previous GeneCards Identifiers for CFHR3 Gene

  • GC01P195011
  • GC01P196743

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 Complement and coagulation cascades and Immune response Lectin induced complement pathway. An important paralog of this gene is CFHR4.

UniProtKB/Swiss-Prot Summary for CFHR3 Gene

Gene Wiki entry for CFHR3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFHR3 Gene

Genomics for CFHR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFHR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J196774 Promoter 0.6 EPDnew 255.4 0.0 -16 0.1 RXRA HNF4A REST SP1 TAF1 YY1 CFHR3 NONHSAG003847.2-001 CFH
GH01J197144 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.9 +371.0 370987 4 SP1 MYC ZNF592 BRCA1 POLR2A YY1 MXD4 CEBPB SMAD5 SIN3A ASPM lnc-ZBTB41-8 CFHR3 ZBTB41 SEPTIN14P12 lnc-ZBTB41-2 lnc-ZBTB41-1 F13B
GH01J197198 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 7.1 +425.3 425287 5.8 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 ZNF580 POLR2A CEBPA ZIC2 ZBTB41 CRB1 lnc-CRB1-2 CFHR3 lnc-ZBTB41-1 HSALNG0009432 ASPM
GH01J196649 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 5.8 -122.1 -122091 5.8 ATF3 YY1 SMAD5 TBP TAF9B FOXA2 RXRA ZNF316 ZBTB33 JUND CFH CFHR1 CFHR3 NONHSAG003845.2
GH01J197095 Enhancer 0.9 Ensembl ENCODE 9 +321.4 321432 2.1 NCOR1 IKZF1 NFIC TAL1 ZNF316 NFE2 FOXM1 BATF MAFG TCF12 F13B CFHR3 piR-41370-001 HE856164 ASPM lnc-ZBTB41-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFHR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFHR3

Top Transcription factor binding sites by QIAGEN in the CFHR3 gene promoter:
  • C/EBPalpha
  • COUP
  • COUP-TF
  • COUP-TF1
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Msx-1
  • YY1

Genomic Locations for CFHR3 Gene

Latest Assembly
chr1:196,774,813-196,795,407
(GRCh38/hg38)
Size:
20,595 bases
Orientation:
Plus strand

Previous Assembly
chr1:196,743,970-196,764,537
(GRCh37/hg19 by Entrez Gene)
Size:
20,568 bases
Orientation:
Plus strand

chr1:196,743,925-196,763,203
(GRCh37/hg19 by Ensembl)
Size:
19,279 bases
Orientation:
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:
    Q02985-FHR3_HUMAN
    Recommended name:
    Complement factor H-related protein 3
    Protein Accession:
    Q02985
    Secondary Accessions:
    • B4DPR0
    • Q9UJ16

    Protein attributes for CFHR3 Gene

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

    Alternative splice isoforms for CFHR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFHR3 Gene

Post-translational modifications for CFHR3 Gene

  • Glycosylation at Asn108, Asn185, Asn205, and Asn309
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for CFHR3 Gene

GenScript: Design optimal peptide antigens:
  • Complement factor H-related 3, isoform CRA_a (B1AKF8_HUMAN)
  • cDNA FLJ60136, moderately similar to Complement factor H-related protein 3 (B4DPR0_HUMAN)
  • H factor-like protein 3 (FHR3_HUMAN)
  • CFHR3 protein (Q8WW96_HUMAN)
genes like me logo Genes that share domains with CFHR3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFHR3 Gene

Function for CFHR3 Gene

Molecular function for CFHR3 Gene

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

Phenotypes From GWAS Catalog for CFHR3 Gene

Gene Ontology (GO) - Molecular Function for CFHR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20042240
genes like me logo Genes that share ontologies with CFHR3: view
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFHR3 Gene

Localization for CFHR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFHR3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CFHR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space TAS 8428964
GO:0070062 extracellular exosome HDA 23533145
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with CFHR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFHR3 Gene

Pathways & Interactions for CFHR3 Gene

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

Pathways by source for CFHR3 Gene

Gene Ontology (GO) - Biological Process for CFHR3 Gene

None

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

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR3

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

No ASD Table

Relevant External Links for CFHR3 Gene

GeneLoc Exon Structure for
CFHR3

Expression for CFHR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for CFHR3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFHR3

SOURCE GeneReport for Unigene cluster for CFHR3 Gene:

Hs.709217

mRNA Expression by UniProt/SwissProt for CFHR3 Gene:

Q02985-FHR3_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CFHR3 Gene

  • Liver(4.8)
  • Blood(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFHR3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CFHR3: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CFHR3 30
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CFHR3 29
  • 61.06 (n)
-- 30
  • 23 (a)
ManyToMany
-- 30
  • 17 (a)
ManyToMany
CFH 30
  • 14 (a)
ManyToMany
-- 30
  • 13 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Cfhr2 30
  • 39 (a)
ManyToMany
Cfhr1 30
  • 37 (a)
ManyToMany
Cfhr3 30
  • 34 (a)
ManyToMany
Gm4788 30
  • 16 (a)
ManyToMany
Cfh 30
  • 12 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 12 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 12 (a)
ManyToMany
-- 30
  • 12 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 10 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 9 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 11 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii cfhl4 30
  • 16 (a)
ManyToMany
Species where no ortholog for CFHR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for CFHR3 (if available)
TreeFam:
Gene Tree for CFHR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFHR3: view image
Alliance of Genome Resources:
Additional Orthologs for CFHR3

Paralogs for CFHR3 Gene

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

  • FHR3_HUMAN
  • Q6NSD3_HUMAN
  • Q8WW96_HUMAN

Pseudogenes.org Pseudogenes for CFHR3 Gene

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

Variants for CFHR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFHR3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs116375156 Benign: not provided 196,779,842(+) A/G
NM_021023.6(CFHR3):c.299A>G (p.Tyr100Cys)
MISSENSE
rs1359238447 Likely Benign: not provided 196,774,913(+) G/A
NM_021023.6(CFHR3):c.27G>A (p.Leu9=)
SYNONYMOUS
rs138675433 Benign: not provided 196,790,152(+) C/T
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser)
MISSENSE
rs138839071 Benign: not provided 196,788,400(+) T/C
NM_021023.6(CFHR3):c.613+2T>C
SPLICE_DONOR_VARIANT,INTRON
rs139520520 Likely Benign: not provided 196,793,325(+) A/G
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFHR3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv11e55 CNV loss 17911159
dgv12e55 CNV gain 17911159
dgv133e212 CNV loss 25503493
dgv13e55 CNV gain 17911159
dgv42e201 CNV deletion 23290073
dgv503n100 CNV gain 25217958
dgv504n100 CNV gain 25217958
dgv505n100 CNV gain 25217958
dgv506n100 CNV gain 25217958
dgv507n100 CNV loss 25217958
dgv508n100 CNV loss 25217958
dgv509n100 CNV gain+loss 25217958
dgv510n100 CNV gain+loss 25217958
dgv511n100 CNV gain 25217958
dgv512n100 CNV loss 25217958
dgv513n100 CNV loss 25217958
dgv514n100 CNV gain+loss 25217958
dgv515n100 CNV loss 25217958
dgv516n100 CNV gain+loss 25217958
dgv517n100 CNV loss 25217958
dgv518n100 CNV gain+loss 25217958
dgv519n100 CNV gain+loss 25217958
dgv520n100 CNV gain 25217958
dgv521n100 CNV loss 25217958
dgv522n100 CNV loss 25217958
dgv523n100 CNV gain 25217958
dgv524n100 CNV gain+loss 25217958
dgv525n100 CNV loss 25217958
dgv526n100 CNV gain+loss 25217958
dgv527n100 CNV gain 25217958
dgv528n100 CNV loss 25217958
dgv529n100 CNV gain+loss 25217958
dgv530n100 CNV loss 25217958
dgv531n100 CNV loss 25217958
dgv532n100 CNV gain 25217958
dgv533n100 CNV loss 25217958
dgv534n100 CNV loss 25217958
dgv535n100 CNV gain+loss 25217958
dgv536n100 CNV gain+loss 25217958
dgv537n100 CNV gain 25217958
dgv538n100 CNV loss 25217958
dgv6e203 CNV gain+loss 21179565
dgv733n54 CNV loss 21841781
dgv734n54 CNV loss 21841781
dgv736n54 CNV loss 21841781
dgv737n54 CNV loss 21841781
dgv738n54 CNV loss 21841781
dgv739n54 CNV loss 21841781
dgv740n54 CNV loss 21841781
dgv741n54 CNV loss 21841781
dgv742n54 CNV loss 21841781
dgv743n54 CNV loss 21841781
dgv744n54 CNV loss 21841781
dgv745n54 CNV loss 21841781
dgv746n54 CNV loss 21841781
dgv87e199 CNV deletion 23128226
dgv88e199 CNV deletion 23128226
dgv8e180 CNV loss 20482838
esv1001500 CNV deletion 20482838
esv2421560 CNV deletion 20811451
esv2630480 CNV deletion 19546169
esv2652513 CNV loss 19546169
esv26552 CNV gain+loss 19812545
esv2721017 CNV deletion 23290073
esv2758990 CNV gain+loss 17122850
esv29961 CNV gain 18421352
esv3019345 CNV deletion 24192839
esv33169 CNV gain+loss 17666407
esv3544666 CNV deletion 23714750
esv3544678 CNV deletion 23714750
esv3578358 CNV loss 25503493
esv3584613 CNV loss 24956385
esv3588469 CNV loss 21293372
esv3588470 CNV loss 21293372
esv3588471 CNV loss 21293372
esv3588472 CNV gain 21293372
esv3891004 CNV gain+loss 25118596
esv3891026 CNV gain+loss 25118596
nsv1003733 CNV gain+loss 25217958
nsv1006345 CNV gain+loss 25217958
nsv1008827 CNV loss 25217958
nsv1009172 CNV gain 25217958
nsv1010268 CNV gain 25217958
nsv1068779 CNV deletion 25765185
nsv1126225 CNV deletion 24896259
nsv1159841 CNV deletion 26073780
nsv1159842 CNV duplication 26073780
nsv3999 CNV deletion 18451855
nsv428290 CNV gain+loss 18775914
nsv433191 CNV loss 18776910
nsv436214 CNV deletion 17901297
nsv437262 CNV loss 16327808
nsv442555 CNV loss 18776908
nsv469810 CNV loss 16826518
nsv471352 CNV gain 19718026
nsv471614 CNV gain+loss 15918152
nsv482141 CNV gain 20164927
nsv498700 CNV loss 21111241
nsv514031 CNV loss 21397061
nsv517662 CNV gain+loss 19592680
nsv528460 CNV gain 19592680
nsv548766 CNV gain 21841781
nsv548767 CNV loss 21841781
nsv548785 CNV loss 21841781
nsv548801 CNV loss 21841781
nsv819563 CNV gain 19587683
nsv820836 CNV deletion 20802225
nsv826008 CNV loss 20364138
nsv8691 CNV gain+loss 18304495
nsv946555 CNV duplication 23825009
nsv946556 CNV duplication 23825009
nsv946557 CNV duplication 23825009

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)

Additional Variant Information for CFHR3 Gene

Human Gene Mutation Database (HGMD)
CFHR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFHR3
Leiden Open Variation Database (LOVD)
CFHR3

SNP Genotyping and Copy Number Assays for research

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

Disorders for CFHR3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CFHR3 Gene - From: OMI, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
macular degeneration, age-related, 1
  • armd1
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
exudative glomerulonephritis
genetic atypical hemolytic-uremic syndrome
  • familial atypical hemolytic-uremic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CFHR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FHR3_HUMAN
  • Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:17367211}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700). {ECO:0000269 PubMed:17367211, ECO:0000269 PubMed:18006700}.

Additional Disease Information for CFHR3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFHR3: view

No data available for 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 PF (The Journal of biological chemistry 1993) 2 3 4 22
  2. Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. (PMID: 19553609) Schmid-Kubista KE … Edwards AO (Investigative ophthalmology & visual science 2009) 3 22 40
  3. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. (PMID: 18006700) Józsi M … Skerka C (Blood 2008) 3 4 22
  4. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. (PMID: 17367211) Zipfel PF … Skerka C (PLoS genetics 2007) 3 4 22
  5. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (PMID: 20059470) Sullivan M … Neumann HP (Annals of human genetics 2010) 3 40

Products for CFHR3 Gene

Sources for CFHR3 Gene