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 an... See more...

Aliases for CFHR5 Gene

Aliases for CFHR5 Gene

  • Complement Factor H Related 5 2 3 5
  • FHR-5 2 3 4
  • FHR5 2 3 4
  • Complement Factor H-Related Protein 5 3 4
  • CFHL5 3 4
  • Complement Factor H-Related 5 2
  • Factor H Related Protein 5 2
  • Factor H-Related Protein 5 3
  • CFHR5D 3
  • CFHR5 5

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 C3 Glomerulopathy 3 and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Complement and coagulation cascades. An important paralog of this gene is CFH.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFHR5 Gene

Genomics for CFHR5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFHR5 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
GH01J196977 Promoter 0.8 EPDnew 250.7 +2.5 2515 0.1 YY1 FOXA2 RXRA ZBTB33 JUND HNF4A RAD21 REST MAX SP1 CFHR5 HSALNG0009427 F13B
GH01J196991 Enhancer 0.9 ENCODE 0.4 +17.1 17094 0.2 KLF9 CEBPA ZIC2 YY1 FOXA1 HOMEZ ZNF217 KMT2B THAP11 FOXA2 CFHR3 CFHR5 HSALNG0009427 F13B
GH01J196943 Promoter 0.3 EPDnew 0.3 -31.2 -31242 0.1 CFHR2 HSALNG0009424 HSALNG0009426 CFHR5
GH01J197021 Enhancer 0.4 Ensembl 0.3 +46.9 46879 0.6 ATF4 CEBPB CEBPG F13B CFHR3 HSALNG0009427 lnc-ASPM-2 CFHR5
GH01J197034 Enhancer 0.3 Ensembl 0.2 +60.2 60179 1.2 JUND PRDM1 F13B CFHR3 lnc-ASPM-2 HSALNG0009427 CFHR5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFHR5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFHR5

Top Transcription factor binding sites by QIAGEN in the CFHR5 gene promoter:
  • POU3F1
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic1

Genomic Locations for CFHR5 Gene

Latest Assembly
chr1:196,975,022-197,009,725
(GRCh38/hg38)
Size:
34,704 bases
Orientation:
Plus strand

Previous Assembly
chr1:196,946,686-196,978,808
(GRCh37/hg19 by Entrez Gene)
Size:
32,123 bases
Orientation:
Plus strand

chr1:196,946,667-196,978,804
(GRCh37/hg19 by Ensembl)
Size:
32,138 bases
Orientation:
Plus strand

Genomic View for CFHR5 Gene

Genes around CFHR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFHR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for CFHR5 Gene

  • Glycosylation at Asn126 and Asn400
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CFHR5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay products for research

  • Boster Bio ELISA Kits for CFHR5

No data available for DME Specific Peptides for CFHR5 Gene

Domains & Families for CFHR5 Gene

Gene Families for CFHR5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for CFHR5 Gene

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

Suggested Antigen Peptide Sequences for CFHR5 Gene

GenScript: Design optimal peptide antigens:
  • Complement factor H-related protein 5 (FHR5_HUMAN)
  • CFHR5 protein (Q05CF5_HUMAN)
  • Complement factor H-related 5 (Q5VYL6_HUMAN)
genes like me logo Genes that share domains with CFHR5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFHR5 Gene

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.

Phenotypes From GWAS Catalog for CFHR5 Gene

Gene Ontology (GO) - Molecular Function for CFHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23487775
GO:0042802 identical protein binding IPI 23487775
GO:0046982 protein heterodimerization activity IDA 23487775
genes like me logo Genes that share ontologies with CFHR5: view
genes like me logo Genes that share phenotypes with CFHR5: view

Human Phenotype Ontology for CFHR5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFHR5 Gene

Localization for CFHR5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR5 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 CFHR5 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for CFHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0032991 protein-containing complex IMP 23487775
genes like me logo Genes that share ontologies with CFHR5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFHR5 Gene

Pathways & Interactions for CFHR5 Gene

PathCards logo

SuperPathways for CFHR5 Gene

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

Pathways by source for CFHR5 Gene

1 KEGG pathway for CFHR5 Gene

Gene Ontology (GO) - Biological Process for CFHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006957 complement activation, alternative pathway NAS 11058592
GO:0030449 regulation of complement activation TAS --
GO:0032091 negative regulation of protein binding IDA 23487775
GO:0051838 cytolysis by host of symbiont cells IMP 23487775
genes like me logo Genes that share ontologies with CFHR5: view

No data available for SIGNOR curated interactions for CFHR5 Gene

Drugs & Compounds for CFHR5 Gene

(1) Drugs for CFHR5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CFHR5: view

Transcripts for CFHR5 Gene

mRNA/cDNA for CFHR5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 CFHR5

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

No ASD Table

Relevant External Links for CFHR5 Gene

GeneLoc Exon Structure for
CFHR5

Expression for CFHR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFHR5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

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

This gene is overexpressed in Liver (x52.8).

Protein differential expression in normal tissues from HIPED for CFHR5 Gene

This gene is overexpressed in Plasma (24.1), Gallbladder (11.8), Serum (11.7), and Testis (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFHR5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFHR5

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.

Evidence on tissue expression from TISSUES for CFHR5 Gene

  • Liver(4.5)
  • Kidney(3.7)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFHR5 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 CFHR5: view

Primer products for research

No data available for Protein tissue co-expression partners 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 29 30
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CFHR5 29 30
  • 78.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CFHR5 30
  • 42 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 26 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 21 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 16 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 21 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii cfhl2 30
  • 14 (a)
ManyToMany
Species where no ortholog for CFHR5 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)
  • 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 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 CFHR5 Gene

ENSEMBL:
Gene Tree for CFHR5 (if available)
TreeFam:
Gene Tree for CFHR5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFHR5: view image
Alliance of Genome Resources:
Additional Orthologs for CFHR5

Paralogs for CFHR5 Gene

(8) SIMAP similar genes for CFHR5 Gene using alignment to 3 proteins:

  • FHR5_HUMAN
  • Q05CF5_HUMAN
  • Q5VYL6_HUMAN
genes like me logo Genes that share paralogs with CFHR5: view

Variants for CFHR5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFHR5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1028902 Uncertain Significance: CFHR5 deficiency 196,977,665(+) A/G
NM_030787.4(CFHR5):c.1A>G (p.Met1Val)
INITIATIOR_CODON_VARIANT,MISSENSE
37236 Pathogenic: CFHR5 deficiency 196,981,078(+) C/CAAATATTGTGCAA
NM_030787.4(CFHR5):c.59-1806_430+3225dup
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
449557 Uncertain Significance: not provided 196,995,755(+) AA/TT
NM_030787.3(CFHR5):c.646_647inv (p.Asn216Phe)
MISSENSE
873626 Uncertain Significance: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 196,995,755(+) A/T
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)
MISSENSE
873627 Uncertain Significance: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 196,995,774(+) T/C
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFHR5 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 CFHR5 Gene

Variant ID Type Subtype PubMed ID
dgv12e55 CNV gain 17911159
dgv72e214 CNV loss 21293372
esv2676788 CNV deletion 23128226
esv2721051 CNV deletion 23290073
esv2758990 CNV gain+loss 17122850
esv3588486 CNV loss 21293372
esv3588488 CNV gain 21293372
esv3588490 CNV loss 21293372
esv3588491 CNV gain 21293372
esv3891048 CNV loss 25118596
nsv428290 CNV gain+loss 18775914
nsv469599 CNV loss 16826518
nsv471614 CNV gain+loss 15918152
nsv524689 CNV loss 19592680
nsv528460 CNV gain 19592680
nsv8702 CNV loss 18304495

Variation tolerance for CFHR5 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFHR5 Gene

Human Gene Mutation Database (HGMD)
CFHR5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFHR5
Leiden Open Variation Database (LOVD)
CFHR5

SNP Genotyping and Copy Number Assays for research

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

Disorders for CFHR5 Gene

MalaCards: The human disease database

(21) MalaCards diseases for CFHR5 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
c3 glomerulopathy 3
  • c3g3
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
glomerulonephritis
  • bright's disease
membranoproliferative glomerulonephritis
  • chronic glomerulonephritis, lobular
dense deposit disease
  • ddd
- elite association - COSMIC cancer census association via MalaCards
Search CFHR5 in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for CFHR5

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 CFHR5: view

No data available for Genatlas for CFHR5 Gene

Publications for CFHR5 Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga TK … Smith RJ (Human mutation 2010) 3 4 22 40
  2. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. (PMID: 20800271) Gale DP … Pickering MC (Lancet (London, England) 2010) 3 4 40 72
  3. Human factor H-related protein 5 (FHR-5). A new complement-associated protein. (PMID: 11058592) McRae JL … Murphy BF (The Journal of biological chemistry 2001) 2 3 4 22
  4. Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. (PMID: 19365580) Narendra U … Hagstrom SA (Molecular vision 2009) 3 22 40
  5. Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. (PMID: 17000000) Monteferrante G … Noris M (Molecular immunology 2007) 3 22 40

Products for CFHR5 Gene

Sources for CFHR5 Gene