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Aliases for CFHR4 Gene

Aliases for CFHR4 Gene

  • Complement Factor H Related 4 2 3 5
  • CFHL4 3 4
  • FHR-4 3 4
  • FHR4 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 Hemolytic Uremic Syndrome, Atypical 1 and Hemolytic-Uremic Syndrome. Gene Ontology (GO) annotations related to this gene include lipid transporter activity. An important paralog of this gene is CFH.

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

Additional gene information for CFHR4 Gene

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

Genomics for CFHR4 Gene

GeneHancer (GH) Regulatory Elements for CFHR4 Gene

Promoters and enhancers for CFHR4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J196888 Promoter 1 EPDnew 650.3 +37.8 37820 0.1 FOXA2 TAF1 MAX CEBPG RAD21 YY1 RUNX3 GATAD2A TEAD1 RXRA CFHR4 GC01M196828 LOC105371675 ENSG00000276911
GH01J196828 Promoter 0.8 EPDnew 0.3 -22.1 -22132 0.1 CTCF SMC3 ELF1 RAD21 CFHR1 CFH ENSG00000276911 CFHR4
GH01J196830 Promoter 0.5 EPDnew 0.4 -19.6 -19600 0.1 CFHR1 F13B ENSG00000276911 CFHR4 GC01M196828
GH01J196898 Enhancer 0.2 FANTOM5 0.2 +48.1 48072 0.4 ZBTB41 CFHR3 F13B GC01M196828 LOC105371675 CFHR4 ENSG00000276911
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFHR4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFHR4 Gene

Genomic Locations for CFHR4 Gene
68,732 bases
Plus strand
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

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

Post-translational modifications for CFHR4 Gene

  • Glycosylated.
  • Glycosylation at posLast=557557, Asn453, Asn433, posLast=374374, Asn206, Asn186, and posLast=127127
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CFHR4 Gene

Domains & Families for CFHR4 Gene

Gene Families for CFHR4 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CFHR4 Gene

Suggested Antigen Peptide Sequences for CFHR4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CFHR4 Gene

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.

Phenotypes From GWAS Catalog for CFHR4 Gene

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

Phenotypes for CFHR4 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR4

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 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 TAS --
genes like me logo Genes that share ontologies with CFHR4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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: Q92496-FHR4_HUMAN ENSP00000356386 for CFHR4 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CFHR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with CFHR4: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR4

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CFHR4 Gene

Protein tissue co-expression partners for CFHR4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFHR4 Gene:


SOURCE GeneReport for Unigene cluster for CFHR4 Gene:


mRNA Expression by UniProt/SwissProt for CFHR4 Gene:

Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CFHR4 Gene

  • Liver(4.7)
genes like me logo Genes that share expression patterns with CFHR4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 93.07 (n)
(Mus musculus)
Mammalia Cfhr1 34
  • 45 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 32 (a)
(Canis familiaris)
Mammalia -- 34
  • 23 (a)
(Bos Taurus)
Mammalia -- 34
  • 20 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 16 (a)
(Gallus gallus)
Aves -- 34
  • 13 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 5 (a)
(Danio rerio)
Actinopterygii cfhl1 34
  • 15 (a)
CU463157.1 34
  • 11 (a)
Species where no ortholog for CFHR4 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for CFHR4: view image

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 Variation AA Info Type
rs1000116391 -- 196,889,484(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000156731 -- 196,904,058(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000396942 -- 196,895,859(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000425966 -- 196,901,410(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000452664 -- 196,913,156(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFHR4 Gene

Variant ID Type Subtype PubMed ID
dgv11e55 CNV loss 17911159
dgv12e55 CNV gain 17911159
dgv133e212 CNV loss 25503493
dgv13e55 CNV gain 17911159
dgv25n16 CNV insertion 17901297
dgv28n111 CNV deletion 26073780
dgv3n31 CNV gain 19718026
dgv42e201 CNV deletion 23290073
dgv43e201 CNV deletion 23290073
dgv511n100 CNV gain 25217958
dgv527n100 CNV gain 25217958
dgv528n100 CNV loss 25217958
dgv529n100 CNV gain+loss 25217958
dgv539n100 CNV gain 25217958
dgv540n100 CNV gain+loss 25217958
dgv541n100 CNV gain 25217958
dgv544n100 CNV loss 25217958
dgv551n100 CNV gain+loss 25217958
dgv552n100 CNV loss 25217958
dgv553n100 CNV gain+loss 25217958
dgv554n100 CNV loss 25217958
dgv555n100 CNV gain 25217958
dgv557n100 CNV loss 25217958
dgv56n27 CNV gain 19166990
dgv57n27 CNV loss 19166990
dgv58n27 CNV gain 19166990
dgv6e203 CNV gain+loss 21179565
dgv733n54 CNV loss 21841781
dgv747n54 CNV loss 21841781
dgv748n54 CNV gain 21841781
dgv750n54 CNV loss 21841781
dgv751n54 CNV loss 21841781
dgv752n54 CNV loss 21841781
dgv753n54 CNV loss 21841781
dgv754n54 CNV gain+loss 21841781
dgv755n54 CNV loss 21841781
dgv756n54 CNV loss 21841781
dgv88e199 CNV deletion 23128226
esv2421550 CNV deletion 20811451
esv26552 CNV gain+loss 19812545
esv2667193 CNV deletion 23128226
esv2672620 CNV deletion 23128226
esv2758990 CNV gain+loss 17122850
esv29961 CNV gain 18421352
esv34855 CNV loss 17911159
esv3575405 CNV gain 25503493
esv3575416 CNV gain 25503493
esv3578352 CNV loss 25503493
esv3578353 CNV loss 25503493
esv3578356 CNV loss 25503493
esv3578358 CNV loss 25503493
esv3588478 CNV loss 21293372
esv3588479 CNV loss 21293372
esv3588480 CNV gain 21293372
esv3588481 CNV loss 21293372
esv3588482 CNV loss 21293372
esv3890993 CNV gain+loss 25118596
esv3891004 CNV gain+loss 25118596
esv3891015 CNV loss 25118596
esv3891037 CNV gain 25118596
esv5113 CNV loss 18987735
nsv1000717 CNV loss 25217958
nsv1001657 CNV loss 25217958
nsv1003503 CNV gain 25217958
nsv1006432 CNV loss 25217958
nsv1009809 CNV loss 25217958
nsv1013679 CNV loss 25217958
nsv1124602 CNV duplication 24896259
nsv1130635 CNV deletion 24896259
nsv1159842 CNV duplication 26073780
nsv1159857 CNV duplication 26073780
nsv3999 CNV deletion 18451855
nsv428290 CNV gain+loss 18775914
nsv442558 CNV gain+loss 18776908
nsv467383 CNV loss 19166990
nsv467905 CNV loss 19166990
nsv469599 CNV loss 16826518
nsv470770 CNV loss 18288195
nsv470773 CNV gain 18288195
nsv471354 CNV gain 19718026
nsv471614 CNV gain+loss 15918152
nsv498701 CNV loss 21111241
nsv514032 CNV loss 21397061
nsv517662 CNV gain+loss 19592680
nsv528460 CNV gain 19592680
nsv548766 CNV gain 21841781
nsv548801 CNV loss 21841781
nsv548843 CNV gain+loss 21841781
nsv548851 CNV gain 21841781
nsv548852 CNV loss 21841781
nsv548865 CNV loss 21841781
nsv818755 CNV loss 17921354
nsv826019 CNV loss 20364138
nsv8691 CNV gain+loss 18304495
nsv946560 CNV duplication 23825009
nsv946561 CNV duplication 23825009
nsv946562 CNV duplication 23825009
nsv946563 CNV duplication 23825009

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)

Additional Variant Information for CFHR4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for CFHR4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CFHR4 Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
vascular hemostatic disease
  • hemostatic disorders
kuhnt-junius degeneration
  • exudative senile macular degeneration of retina
macular degeneration, age-related, 1
  • armd1
- elite association - COSMIC cancer census association via MalaCards
Search CFHR4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFHR4

Genetic Association Database
Human Genome Epidemiology 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 PF (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4). (PMID: 9476126) Hellwage J … Zipfel PF (Immunopharmacology 1997) 3 4 22 58
  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 KJ (Blood 2010) 3 22 58
  4. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (PMID: 20059470) Sullivan M … Neumann HP (Annals of human genetics 2010) 3 44 58
  5. Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4. (PMID: 20042240) Hebecker M … Józsi M (Molecular immunology 2010) 3 22 58

Products for CFHR4 Gene

Sources for CFHR4 Gene

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