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Aliases for CFHR4 Gene

Aliases for CFHR4 Gene

  • Complement Factor H-Related 4 2 3
  • CFHL4 3 4 6
  • FHR4 3 4 6
  • FHR-4 3 4
  • Complement Factor H-Related Protein 4 3
  • Complement Factor H Related 4 2

External Ids for CFHR4 Gene

Previous HGNC Symbols for CFHR4 Gene

  • CFHL4

Previous GeneCards Identifiers for CFHR4 Gene

  • GC01P195010
  • GC01P195123
  • GC01P168014

Summaries for CFHR4 Gene

Entrez Gene Summary for CFHR4 Gene

  • This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for CFHR4 Gene

CFHR4 (Complement Factor H-Related 4) is a Protein Coding gene. Diseases associated with CFHR4 include kuhnt-junius degeneration. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is F13B.

UniProtKB/Swiss-Prot for CFHR4 Gene

  • Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism

Gene Wiki entry for CFHR4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFHR4 Gene

Genomics for CFHR4 Gene

Genomic Location for CFHR4 Gene

196,850,241 bp from pter
196,918,972 bp from pter
68,732 bases
Plus strand

Genomic View for CFHR4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFHR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFHR4 Gene

No data available for Regulatory Elements for CFHR4 Gene

Proteins for CFHR4 Gene

  • Protein details for CFHR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement factor H-related protein 4
    Protein Accession:
    Secondary Accessions:
    • A8K9N7
    • B1ALQ9
    • C9J7J7
    • Q5DVJ7
    • Q9UJY6

    Protein attributes for CFHR4 Gene

    578 amino acids
    Molecular mass:
    65351 Da
    Quaternary structure:
    • Homodimer

    Alternative splice isoforms for CFHR4 Gene


neXtProt entry for CFHR4 Gene

Proteomics data for CFHR4 Gene at MOPED

Post-translational modifications for CFHR4 Gene

  • Glycosylated
  • Glycosylation at Asn127, Asn186, Asn206, Asn374, Asn433, Asn453, and Asn557
  • Modification sites at PhosphoSitePlus

Other Protein References for CFHR4 Gene

Antibody Products

  • R&D Systems Antibodies for CFHR4 (Complement Factor H-related 4/CFHR4)
  • Santa Cruz Biotechnology (SCBT) Antibodies for CFHR4

No data available for DME Specific Peptides for CFHR4 Gene

Domains for CFHR4 Gene

Gene Families for CFHR4 Gene

Protein Domains for CFHR4 Gene

Suggested Antigen Peptide Sequences for CFHR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 9 Sushi (CCP/SCR) domains.
  • Contains 9 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with CFHR4: view

Function for CFHR4 Gene

Molecular function for CFHR4 Gene

UniProtKB/Swiss-Prot Function:
Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism

Gene Ontology (GO) - Molecular Function for CFHR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity TAS 9038172
genes like me logo Genes that share ontologies with CFHR4: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFHR4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFHR4 Gene

Localization for CFHR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR4 Gene


Subcellular locations from

Jensen Localization Image for CFHR4 Gene COMPARTMENTS Subcellular localization image for CFHR4 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for CFHR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with CFHR4: view

Pathways for CFHR4 Gene

SuperPathways for CFHR4 Gene

No Data Available

Interacting Proteins for CFHR4 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000356386 Q92496-FHR4_HUMAN for CFHR4 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CFHR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport TAS 9038172
genes like me logo Genes that share ontologies with CFHR4: view

No data available for Pathways by source for CFHR4 Gene

Drugs for CFHR4 Gene

(1) Novoseek inferred chemical compound relationships for CFHR4 Gene

Compound -log(P) Hits PubMed IDs
heparin 37.9 3
genes like me logo Genes that share compounds with CFHR4: view

Transcripts for CFHR4 Gene

mRNA/cDNA for CFHR4 Gene

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

Unigene Clusters for CFHR4 Gene

Complement factor H-related 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFHR4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFHR4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - - - - -
SP3: - -
SP5: -

Relevant External Links for CFHR4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFHR4 Gene

mRNA expression in normal human tissues for CFHR4 Gene

mRNA differential expression in normal tissues according to GTEx for CFHR4 Gene

This gene is overexpressed in Liver (52.0).

Protein differential expression in normal tissues for CFHR4 Gene

This gene is overexpressed in Synovial fluid (65.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFHR4 Gene

SOURCE GeneReport for Unigene cluster for CFHR4 Gene Hs.710100

mRNA Expression by UniProt/SwissProt for CFHR4 Gene

Tissue specificity: Expressed by the liver and secreted in plasma
genes like me logo Genes that share expressions with CFHR4: view

Expression partners for CFHR4 Gene

* - Elite partner

Primer Products

  • 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

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CFHR4 Gene

Orthologs for CFHR4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CFHR4 35
  • 93.07 (n)
  • 90.18 (a)
CFHR4 36
  • 97 (a)
(Bos Taurus)
Mammalia -- 36
  • 20 (a)
(Canis familiaris)
Mammalia -- 36
  • 23 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 16 (a)
(Mus musculus)
Mammalia Cfhr1 36
  • 45 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 32 (a)
(Gallus gallus)
Aves -- 36
  • 13 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 5 (a)
(Danio rerio)
Actinopterygii cfhl1 36
  • 15 (a)
CU463157.1 36
  • 11 (a)
Species with no ortholog for CFHR4:
  • 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 CFHR4 Gene

Gene Tree for CFHR4 (if available)
Gene Tree for CFHR4 (if available)

Paralogs for CFHR4 Gene

Paralogs for CFHR4 Gene

(5) SIMAP similar genes for CFHR4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CFHR4: view

Variants for CFHR4 Gene

Sequence variations from dbSNP and Humsavar for CFHR4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs431397 -- 196,919,123(-) tgatt(C/G)ccagc downstream-variant-500B
rs1325927 -- 196,914,551(-) CTTAA(A/T)CCGCA missense, reference, intron-variant
rs1409153 -- 196,910,875(-) ATTAG(A/G)AACAT intron-variant
rs1853882 -- 196,916,214(-) TTGTG(C/G)CTTAT intron-variant
rs1853883 -- 196,912,470(-) ATGCA(C/G)ATCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFHR4 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
dgv168e1 CNV Complex 17122850
esv26552 CNV Gain+Loss 19812545
nsv8691 CNV Gain+Loss 18304495
dgv500n71 CNV Loss 21882294
dgv501n71 CNV Gain+Loss 21882294
nsv517662 CNV Gain+Loss 19592680
dgv54e201 CNV Deletion 23290073
nsv3999 CNV Loss 18451855
dgv11e55 CNV Loss 17911159
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
dgv13e55 CNV Gain 17911159
dgv506n71 CNV Gain 21882294
esv29961 CNV Gain 18421352
dgv507n71 CNV Gain+Loss 21882294
dgv88e199 CNV Deletion 23128226
dgv55e201 CNV Deletion 23290073
dgv25n16 CNV Insertion 17901297
dgv508n71 CNV Loss 21882294
dgv3n31 CNV Duplication 19718026
nsv498701 CNV Loss 21111241
esv5113 CNV Deletion 18987735
nsv469599 CNV Loss 16826518
dgv171e1 CNV Complex 17122850
dgv509n71 CNV Gain 21882294
dgv510n71 CNV Loss 21882294
dgv511n71 CNV Gain+Loss 21882294
dgv512n71 CNV Gain+Loss 21882294
dgv513n71 CNV Gain+Loss 21882294
esv2421550 CNV Deletion 20811451
nsv873060 CNV Loss 21882294
nsv826019 CNV Loss 20364138
nsv470773 CNV Gain 18288195
nsv470770 CNV Loss 18288195
nsv467383 CNV Loss 19166990
dgv56n27 CNV Gain 19166990
nsv818755 CNV Loss 17921354
dgv57n27 CNV Loss 19166990
dgv58n27 CNV Gain 19166990
nsv442558 CNV CNV 18776908
esv34855 CNV Loss 17911159
essv14815 CNV CNV 17122850
essv21109 CNV CNV 17122850
nsv514032 CNV Loss 21397061
nsv873062 CNV Gain 21882294
esv2667193 CNV Deletion 23128226
nsv467905 CNV Loss 19166990
nsv471354 CNV Duplication 19718026
esv2672620 CNV Deletion 23128226

Relevant External Links for CFHR4 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFHR4 Gene

Disorders for CFHR4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CFHR4 Gene in MalaCards »

(1) Disease for CFHR4 Gene

(1) University of Copenhagen DISEASES for CFHR4 Gene

Relevant External Links for CFHR4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CFHR4: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for CFHR4 Gene

Publications for CFHR4 Gene

  1. The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins. (PMID: 9038172) Skerka C. … Zipfel P.F. (J. Biol. Chem. 1997) 2 3 4 23
  2. Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4). (PMID: 9476126) Hellwage J. … Zipfel P.F. (Immunopharmacology 1997) 3 4 23
  3. Human complement factor H-related protein 4 binds and recruits native pentameric C-reactive protein to necrotic cells. (PMID: 19084272) Mihlan M. … JA^zsi M. (Mol. Immunol. 2009) 3 23
  4. 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
  5. Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4. (PMID: 20042240) Hebecker M. … JA^zsi M. (Mol. Immunol. 2010) 3 23

Products for CFHR4 Gene

Sources for CFHR4 Gene

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