Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFHR3 Gene

Aliases for CFHR3 Gene

  • Complement Factor H-Related 3 2 3
  • CFHL3 3 4 6
  • FHR3 3 4 6
  • H Factor-Like Protein 3 3 4
  • DOWN16 3 4
  • FHR-3 3 4
  • HLF4 3 6
  • Complement Factor H-Related Protein 3 3
  • Complement Factor H Related 3 2
  • H Factor-Like 4 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 cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome and hemolytic uremic syndrome, atypical 1. Among its related pathways are Creation of C4 and C2 activators and Complement Pathway. An important paralog of this gene is F13B.

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

Genomic Location for CFHR3 Gene

Start:
196,774,795 bp from pter
End:
196,795,406 bp from pter
Size:
20,612 bases
Orientation:
Plus strand

Genomic View for CFHR3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CFHR3 Gene at MOPED

Post-translational modifications for CFHR3 Gene

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

Other Protein References for CFHR3 Gene

No data available for DME Specific Peptides for CFHR3 Gene

Domains for CFHR3 Gene

Gene Families for CFHR3 Gene

HGNC:

Protein Domains for CFHR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q02985

UniProtKB/Swiss-Prot:

FHR3_HUMAN :
  • Q02985
Domain:
  • 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

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

Animal Model Products

CRISPR Products

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

Localization for CFHR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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:0005615 extracellular space TAS 8428964
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CFHR3: view

Pathways for CFHR3 Gene

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

Pathways by source for CFHR3 Gene

2 Reactome pathways for CFHR3 Gene

Interacting Proteins for CFHR3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000356395%0d%0a9606.ENSP00000245907%0d%0a9606.ENSP00000368646%0d%0a
Selected Interacting proteins: ENSP00000356395 Q02985-FHR3_HUMAN for CFHR3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CFHR3 Gene

None

Transcripts for CFHR3 Gene

mRNA/cDNA for CFHR3 Gene

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

Unigene Clusters for CFHR3 Gene

Complement factor H-related 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFHR3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CFHR3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CFHR3 Gene

GeneLoc Exon Structure for
CFHR3
ECgene alternative splicing isoforms for
CFHR3

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 (51.1).

Integrated Proteomics: protein expression 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

Q02985-FHR3_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma
genes like me logo Genes that share expressions with CFHR3: view

In Situ Assay Products

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 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 17 (a)
ManyToMany
-- 36
  • 13 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
CFH 36
  • 14 (a)
ManyToMany
CFHR3 35
  • 61.06 (n)
  • 48.6 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 12 (a)
ManyToMany
-- 36
  • 12 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cfh 36
  • 12 (a)
ManyToMany
Cfhr1 36
  • 37 (a)
ManyToMany
Cfhr2 36
  • 39 (a)
ManyToMany
Cfhr3 36
  • 34 (a)
ManyToMany
Gm4788 36
  • 16 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 9 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii cfhl4 36
  • 16 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CFHR3 (if available)
TreeFam:
Gene Tree for CFHR3 (if available)

Paralogs for CFHR3 Gene

Paralogs for CFHR3 Gene

Selected SIMAP similar genes for CFHR3 Gene using alignment to 3 proteins:

Pseudogenes.org 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 MAF
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
rs369561 -- 196,774,696(-) CAGTT(A/C)GTGGT upstream-variant-2KB
rs370789 -- 196,787,110(-) ATTAT(C/T)ATGCG 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

Relevant External Links for CFHR3 Gene

HapMap Linkage Disequilibrium report
CFHR3
Human Gene Mutation Database (HGMD)
CFHR3

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

Disorders for CFHR3 Gene

(2) OMIM Diseases for CFHR3 Gene (605336)

(2) University of Copenhagen DISEASES for CFHR3 Gene

Relevant External Links for CFHR3

Genetic Association Database (GAD)
CFHR3
Human Genome Epidemiology (HuGE) Navigator
CFHR3
genes like me logo Genes that share disorders with CFHR3: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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 48
  3. 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
  4. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. (PMID: 17438673) Hageman G.S. … Dean M. (Ann. Med. 2006) 3 48
  5. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. (PMID: 18084039) Spencer K.L. … Haines J.L. (Hum. Mol. Genet. 2008) 3 48

Products for CFHR3 Gene

Sources for CFHR3 Gene

Back to Top

Content