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Aliases for CFHR4 Gene

Aliases for CFHR4 Gene

  • Complement Factor H Related 4 2 3
  • Complement Factor H-Related 4 2 3 5
  • CFHL4 3 4
  • FHR-4 3 4
  • FHR4 3 4

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 Macular Degeneration, Age-Related, 1. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is ENSG00000276911.

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

Genes around CFHR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFHR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 127, Asn 186, Asn 206, Asn 374, Asn 433, Asn 453, and Asn 557
  • Modification sites at PhosphoSitePlus

Other Protein References for CFHR4 Gene

Antibody Products

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

No data available for DME Specific Peptides for CFHR4 Gene

Domains & Families for CFHR4 Gene

Gene Families for CFHR4 Gene

Protein Domains for CFHR4 Gene

Suggested Antigen Peptide Sequences for CFHR4 Gene

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.

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , 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

No data available for Gene Ontology (GO) - Cellular Components for CFHR4 Gene

Pathways & Interactions 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


No data available for Pathways by source and SIGNOR curated interactions for CFHR4 Gene

Drugs & Compounds for CFHR4 Gene

(1) Drugs for CFHR4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x52.0).

Protein differential expression in normal tissues from HIPED for CFHR4 Gene

This gene is overexpressed in Synovial fluid (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CFHR4: view

Protein tissue co-expression partners for CFHR4 Gene

Primer 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
VAR_047151 -
rs10801578 - 196,905,226(+) GCAGA(G/T)GGAAA intron-variant, nc-transcript-variant, reference, missense
rs7417769 - 196,907,328(+) AGAAA(A/G)CTGTG intron-variant, nc-transcript-variant, reference, missense
rs1409153 -- 196,910,875(-) ATTAG(A/G)AACAT intron-variant
rs4073281 -- 196,887,343(-) ATCTC(A/C/G)TATCA upstream-variant-2KB

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

Variation tolerance for CFHR4 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.15% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CFHR4 Gene

Disorders for CFHR4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFHR4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- elite association - COSMIC cancer census association via MalaCards
Search CFHR4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFHR4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFHR4: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. 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
  3. 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
  4. 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
  5. A radiation hybrid map of complement factor H and factor H-related genes. (PMID: 10380701) DA-az-GuillAcn M.A. … Heine-SuA+er D. (Immunogenetics 1999) 2 3

Products for CFHR4 Gene

Sources for CFHR4 Gene