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Aliases for CFHR5 Gene

Aliases for CFHR5 Gene

  • Complement Factor H-Related 5 2 3
  • CFHL5 3 4 6
  • FHR5 3 4 6
  • CFHR5D 3 6
  • FHR-5 3 4
  • Complement Factor H-Related Protein 5 3
  • Factor H Related Protein 5 2
  • Factor H-Related Protein 5 3

External Ids for CFHR5 Gene

Previous HGNC Symbols for CFHR5 Gene

  • CFHL5

Previous GeneCards Identifiers for CFHR5 Gene

  • GC01P195213
  • GC01P196946
  • GC01P168103

Summaries for CFHR5 Gene

Entrez Gene Summary for CFHR5 Gene

  • This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]

GeneCards Summary for CFHR5 Gene

CFHR5 (Complement Factor H-Related 5) is a Protein Coding gene. Diseases associated with CFHR5 include nephropathy due to cfhr5 deficiency and membranoproliferative glomerulonephritis. An important paralog of this gene is F13B.

UniProtKB/Swiss-Prot for CFHR5 Gene

  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

Gene Wiki entry for CFHR5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFHR5 Gene

Genomics for CFHR5 Gene

Regulatory Elements for CFHR5 Gene

Genomic Location for CFHR5 Gene

Start:
196,977,537 bp from pter
End:
197,009,674 bp from pter
Size:
32,138 bases
Orientation:
Plus strand

Genomic View for CFHR5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFHR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFHR5 Gene

Proteins for CFHR5 Gene

  • Protein details for CFHR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXR6-FHR5_HUMAN
    Recommended name:
    Complement factor H-related protein 5
    Protein Accession:
    Q9BXR6
    Secondary Accessions:
    • Q2NKK2

    Protein attributes for CFHR5 Gene

    Size:
    569 amino acids
    Molecular mass:
    64419 Da
    Quaternary structure:
    • Head-to-tail homodimer and heterodimer with CFHR1 or CFHR2. Binds C3b in vitro.

neXtProt entry for CFHR5 Gene

Proteomics data for CFHR5 Gene at MOPED

Post-translational modifications for CFHR5 Gene

  • Glycosylation at Asn126 and Asn400
  • Modification sites at PhosphoSitePlus

Other Protein References for CFHR5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFHR5 Gene

Domains for CFHR5 Gene

Gene Families for CFHR5 Gene

HGNC:

Protein Domains for CFHR5 Gene

Suggested Antigen Peptide Sequences for CFHR5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXR6

UniProtKB/Swiss-Prot:

FHR5_HUMAN :
  • Q9BXR6
Domain:
  • Contains 9 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with CFHR5: view

Function for CFHR5 Gene

Molecular function for CFHR5 Gene

UniProtKB/Swiss-Prot Function: Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CFHR5 Gene

Localization for CFHR5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CFHR5 Gene COMPARTMENTS Subcellular localization image for CFHR5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CFHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11058592
genes like me logo Genes that share ontologies with CFHR5: view

Pathways for CFHR5 Gene

SuperPathways for CFHR5 Gene

No Data Available

Interacting Proteins for CFHR5 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.ENSP00000256785%0d%0a9606.ENSP00000436812%0d%0a9606.ENSP00000245907%0d%0a
Selected Interacting proteins: ENSP00000256785 Q9BXR6-FHR5_HUMAN for CFHR5 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CFHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006957 complement activation, alternative pathway NAS 11058592
genes like me logo Genes that share ontologies with CFHR5: view

No data available for Pathways by source for CFHR5 Gene

Compounds for CFHR5 Gene

(1) Novoseek inferred chemical compound relationships for CFHR5 Gene

Compound -log(P) Hits PubMed IDs
heparin 26.1 2
genes like me logo Genes that share compounds with CFHR5: view

Transcripts for CFHR5 Gene

mRNA/cDNA for CFHR5 Gene

(7) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CFHR5 Gene

Complement factor H-related 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFHR5 Gene

No ASD Table

Relevant External Links for CFHR5 Gene

GeneLoc Exon Structure for
CFHR5
ECgene alternative splicing isoforms for
CFHR5

Expression for CFHR5 Gene

mRNA expression in normal human tissues for CFHR5 Gene

mRNA differential expression in normal tissues according to GTEx for CFHR5 Gene

This gene is overexpressed in Liver (52.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFHR5 Gene

SOURCE GeneReport for Unigene cluster for CFHR5 Gene Hs.282594

mRNA Expression by UniProt/SwissProt for CFHR5 Gene

Q9BXR6-FHR5_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma
genes like me logo Genes that share expressions with CFHR5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CFHR5 Gene

Orthologs for CFHR5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFHR5 35
  • 99.06 (n)
  • 98.24 (a)
CFHR5 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CFHR5 36
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CFHR5 35
  • 78.07 (n)
  • 64.37 (a)
CFHR5 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 21 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 21 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii cfhl2 36
  • 14 (a)
ManyToMany
Species with no ortholog for CFHR5:
  • 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)
  • mouse (Mus musculus)
  • 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 CFHR5 Gene

ENSEMBL:
Gene Tree for CFHR5 (if available)
TreeFam:
Gene Tree for CFHR5 (if available)

Paralogs for CFHR5 Gene

Paralogs for CFHR5 Gene

Selected SIMAP similar genes for CFHR5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CFHR5: view

Variants for CFHR5 Gene

Sequence variations from dbSNP and Humsavar for CFHR5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs928439 -- 196,981,352(+) tatgg(A/G)cttta intron-variant
rs928440 -- 196,981,220(+) TTCAG(A/G)AAATA intron-variant
rs1170878 -- 196,990,713(-) acaag(C/T)cagaa intron-variant
rs1170879 -- 196,986,917(-) agaac(C/T)agaaa intron-variant
rs1170880 -- 196,978,184(+) AATTA(C/T)CATTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFHR5 Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
nsv428290 CNV Gain+Loss 18775914
esv743 CNV CNV 17122850
nsv471614 CNV Gain+Loss 15918152
dgv166e1 CNV Complex 17122850
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
nsv469599 CNV Loss 16826518
dgv171e1 CNV Complex 17122850
esv2721051 CNV Deletion 23290073
nsv524689 CNV Loss 19592680
nsv8702 CNV Loss 18304495
esv2676788 CNV Deletion 23128226
essv19099 CNV CNV 17122850

Relevant External Links for CFHR5 Gene

HapMap Linkage Disequilibrium report
CFHR5
Human Gene Mutation Database (HGMD)
CFHR5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFHR5 Gene

Disorders for CFHR5 Gene

(1) OMIM Diseases for CFHR5 Gene (608593)

UniProtKB/Swiss-Prot

FHR5_HUMAN
  • Note=Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome 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. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. {ECO:0000269 PubMed:20513133, ECO:0000269 PubMed:22622361}.
  • CFHR5 deficiency (CFHR5D) [MIM:614809]: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. {ECO:0000269 PubMed:20800271, ECO:0000269 PubMed:22503529}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CFHR5 Gene

Relevant External Links for CFHR5

GeneTests
CFHR5
GeneReviews
CFHR5
Genetic Association Database (GAD)
CFHR5
Human Genome Epidemiology (HuGE) Navigator
CFHR5
genes like me logo Genes that share disorders with CFHR5: view

Publications for CFHR5 Gene

  1. Human factor H-related protein 5 (FHR-5). A new complement-associated protein. (PMID: 11058592) McRae J.L. … Murphy B.F. (J. Biol. Chem. 2001) 2 3 4 23
  2. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga T.K. … Smith R.J.H. (Hum. Mutat. 2010) 3 4 23 48
  3. Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. (PMID: 17000000) Monteferrante G. … Noris M. (Mol. Immunol. 2007) 3 23 48
  4. Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. (PMID: 19365580) Narendra U. … Hagstrom S.A. (Mol. Vis. 2009) 3 23 48
  5. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. (PMID: 20800271) Gale D.P. … Pickering M.C. (Lancet 2010) 3 4 48

Products for CFHR5 Gene

Sources for CFHR5 Gene

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