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Aliases for CFH Gene

Aliases for CFH Gene

  • Complement Factor H 2 3
  • HF1 3 4 6
  • Age-Related Maculopathy Susceptibility 1 2 3
  • H Factor 2 (Complement) 2 3
  • H Factor 1 (Complement) 2 3
  • Beta-1H 2 3
  • AHUS1 3 6
  • ARMD4 3 6
  • HF2 3 4
  • HUS 3 6
  • HF 3 4
  • Adrenomedullin Binding Protein 3
  • Beta-1-H-Globulin 3
  • Factor H-Like 1 3
  • H Factor 1 4
  • Factor H 3
  • CFHL3 3
  • AMBP1 3
  • ARMS1 3
  • FHL1 3
  • FH 3

External Ids for CFH Gene

Previous Symbols for CFH Gene

  • HF
  • HF1
  • HF2

Summaries for CFH Gene

Entrez Gene Summary for CFH Gene

  • This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

GeneCards Summary for CFH Gene

CFH (Complement Factor H) is a Protein Coding gene. Diseases associated with CFH include macular degeneration, age-related, 4 and complement factor h deficiency. Among its related pathways are Pathways in cancer and Complement and coagulation cascades. GO annotations related to this gene include heparin binding and heparan sulfate proteoglycan binding. An important paralog of this gene is F13B.

UniProtKB/Swiss-Prot for CFH Gene

  • Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway

Gene Wiki entry for CFH Gene

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

Genomics for CFH Gene

Genomic Location for CFH Gene

Start:
196,651,878 bp from pter
End:
196,747,504 bp from pter
Size:
95,627 bases
Orientation:
Plus strand

Genomic View for CFH Gene

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

RefSeq DNA sequence for CFH Gene

Regulatory Elements for CFH Gene

Transcription factor binding sites by QIAGEN in the CFH gene promoter:

Proteins for CFH Gene

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

    Protein Symbol:
    P08603-CFAH_HUMAN
    Recommended name:
    Complement factor H
    Protein Accession:
    P08603
    Secondary Accessions:
    • A5PL14
    • P78435
    • Q14570
    • Q2TAZ5
    • Q38G77
    • Q5TFM3
    • Q8N708
    • Q9NU86

    Protein attributes for CFH Gene

    Size:
    1231 amino acids
    Molecular mass:
    139096 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB41739.1; Type=Frameshift; Positions=341; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFH Gene

    Alternative splice isoforms for CFH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFH Gene

Proteomics data for CFH Gene at MOPED

Post-translational modifications for CFH Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn529, Asn718, Asn802, Asn822, Asn882, Asn911, Asn1029, and Asn1095

Other Protein References for CFH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CFH Gene

Domains for CFH Gene

Gene Families for CFH Gene

HGNC:

Protein Domains for CFH Gene

UniProtKB/Swiss-Prot:

CFAH_HUMAN
Domain:
  • Contains 20 Sushi (CCP/SCR) domains.:
    • P08603
genes like me logo Genes that share domains with CFH: view

Function for CFH Gene

Molecular function for CFH Gene

UniProtKB/Swiss-Prot Function: Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway

Gene Ontology (GO) - Molecular Function for CFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16612335
GO:0008201 heparin binding IDA 22471560
GO:0043395 heparan sulfate proteoglycan binding IDA 22471560
genes like me logo Genes that share ontologies with CFH: view
genes like me logo Genes that share phenotypes with CFH: view

Animal Models for CFH Gene

MGI Knock Outs for CFH:

miRNA for CFH Gene

miRTarBase miRNAs that target CFH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CFH Gene

Localization for CFH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFH Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CFH Gene COMPARTMENTS Subcellular localization image for CFH gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 9312129
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CFH: view

Pathways for CFH Gene

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

Gene Ontology (GO) - Biological Process for CFH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006956 complement activation TAS 9312129
GO:0006957 complement activation, alternative pathway IEA --
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with CFH: view

Compounds for CFH Gene

(23) Novoseek inferred chemical compound relationships for CFH Gene

Compound -log(P) Hits PubMed IDs
heparin 55.1 35
pneumococcal 43.2 14
serine 23.2 10
glycosaminoglycan 18.4 3
sialic acid 13.7 5
genes like me logo Genes that share compounds with CFH: view

Transcripts for CFH Gene

Unigene Clusters for CFH Gene

Complement factor H:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:

Relevant External Links for CFH Gene

GeneLoc Exon Structure for
CFH
ECgene alternative splicing isoforms for
CFH

Expression for CFH Gene

mRNA expression in normal human tissues for CFH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (13.1) and Heart - Atrial Appendage (4.8).

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

SOURCE GeneReport for Unigene cluster for CFH Gene Hs.363396

mRNA Expression by UniProt/SwissProt for CFH Gene

P08603-CFAH_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma
genes like me logo Genes that share expressions with CFH: view

Orthologs for CFH Gene

This gene was present in the common ancestor of animals.

Orthologs for CFH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFH 36
  • 98.62 (n)
  • 97.32 (a)
CFH 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 60 (a)
ManyToMany
-- 37
  • 62 (a)
ManyToMany
-- 37
  • 55 (a)
ManyToMany
CFH 36
  • 75.2 (n)
  • 62.48 (a)
CFH 37
  • 62 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 59 (a)
ManyToMany
-- 37
  • 59 (a)
ManyToMany
LOC478952 36
  • 75.55 (n)
  • 60.26 (a)
mouse
(Mus musculus)
Mammalia Cfh 36
  • 72.46 (n)
  • 61.91 (a)
Cfh 16
Cfh 37
  • 61 (a)
ManyToMany
Cfhr1 37
  • 47 (a)
ManyToMany
Cfhr2 37
  • 55 (a)
ManyToMany
Cfhr3 37
  • 69 (a)
ManyToMany
Gm4788 37
  • 57 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 26 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cfh 36
  • 73.32 (n)
  • 64.17 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 34 (a)
OneToMany
CFH 36
  • 54.61 (n)
  • 40.21 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 36 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731666 36
  • 48.21 (n)
  • 39.67 (a)
zebrafish
(Danio rerio)
Actinopterygii cfhl3 37
  • 28 (a)
ManyToMany
LOC100535929 36
  • 49.05 (n)
  • 34.29 (a)
worm
(Caenorhabditis elegans)
Secernentea F36H2.5 36
  • 42.28 (n)
  • 27.73 (a)
Species with no ortholog for CFH:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CFH Gene

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

Paralogs for CFH Gene

Paralogs for CFH Gene

Selected SIMAP similar genes for CFH Gene using alignment to 4 proteins:

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

Variants for CFH Gene

Sequence variations from dbSNP and Humsavar for CFH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3645 -- 196,693,886(-) AACTG(C/T)AGATG intron-variant
rs14473 -- 196,747,335(+) CACAC(C/T)TTTAT utr-variant-3-prime
rs70620 -- 196,735,867(-) ATGAA(C/T)AAAAC intron-variant
rs70621 -- 196,735,879(-) GGAGA(C/T)GTTTG intron-variant
rs105980 -- 196,746,536(+) atttt(A/C/G)atgtt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
dgv164e1 CNV Complex 17122850
nsv428290 CNV Gain+Loss 18775914
esv743 CNV CNV 17122850
nsv872958 CNV Gain 21882294
nsv872959 CNV Gain 21882294
nsv872960 CNV Loss 21882294
dgv86e199 CNV Deletion 23128226
nsv872961 CNV Loss 21882294
nsv872962 CNV Loss 21882294
nsv872963 CNV Loss 21882294
nsv872964 CNV Gain 21882294
nsv818733 CNV Gain 17921354
nsv872965 CNV Loss 21882294
nsv872966 CNV Loss 21882294
nsv872967 CNV Loss 21882294
nsv818744 CNV Gain 17921354
nsv872968 CNV Gain 21882294
nsv825997 CNV Loss 20364138
nsv872969 CNV Loss 21882294
dgv494n71 CNV Gain+Loss 21882294
nsv872971 CNV Loss 21882294
nsv872972 CNV Loss 21882294
nsv872974 CNV Gain 21882294
nsv872975 CNV Gain+Loss 21882294
dgv495n71 CNV Loss 21882294
dgv496n71 CNV Loss 21882294
esv1247490 CNV Insertion 17803354
nsv469810 CNV Loss 16826518
nsv471614 CNV Gain+Loss 15918152
nsv872981 CNV Loss 21882294
nsv872982 CNV Gain 21882294
dgv165e1 CNV Complex 17122850
dgv166e1 CNV Complex 17122850
dgv497n71 CNV Loss 21882294
nsv872985 CNV Loss 21882294
dgv498n71 CNV Loss 21882294
nsv872988 CNV Gain 21882294
nsv826008 CNV Loss 20364138
dgv167e1 CNV Complex 17122850
dgv168e1 CNV Complex 17122850
esv26552 CNV Gain+Loss 19812545
nsv8691 CNV Gain+Loss 18304495
dgv499n71 CNV Gain+Loss 21882294
dgv500n71 CNV Loss 21882294
dgv501n71 CNV Gain+Loss 21882294
nsv517662 CNV Gain+Loss 19592680
nsv872998 CNV Loss 21882294
esv1001500 CNV Deletion 20482838
dgv54e201 CNV Deletion 23290073
dgv502n71 CNV Loss 21882294
nsv471393 CNV Duplication 19718026
dgv503n71 CNV Loss 21882294
nsv819563 CNV Gain 19587683

Relevant External Links for CFH Gene

HapMap Linkage Disequilibrium report
CFH
Human Gene Mutation Database (HGMD)
CFH
Locus Specific Mutation Databases (LSDB)
CFH

Disorders for CFH Gene

(4) OMIM Diseases for CFH Gene (134370)

UniProtKB/Swiss-Prot

CFAH_HUMAN
  • Basal laminar drusen (BLD) [MIM:126700]: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. {ECO:0000269 PubMed:18252232}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Complement factor H deficiency (CFHD) [MIM:609814]: A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. {ECO:0000269 PubMed:10803850, ECO:0000269 PubMed:11158219, ECO:0000269 PubMed:11170895, ECO:0000269 PubMed:11170896, ECO:0000269 PubMed:12020532, ECO:0000269 PubMed:14978182, ECO:0000269 PubMed:16612335, ECO:0000269 PubMed:9312129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]: An atypical form of hemolytic uremic syndrome. It 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. {ECO:0000269 PubMed:10577907, ECO:0000269 PubMed:10762557, ECO:0000269 PubMed:11851332, ECO:0000269 PubMed:12960213, ECO:0000269 PubMed:14583443, ECO:0000269 PubMed:14978182, ECO:0000269 PubMed:20513133, ECO:0000269 PubMed:9551389}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
  • Macular degeneration, age-related, 4 (ARMD4) [MIM:610698]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:22019782}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(47) Novoseek inferred disease relationships for CFH Gene

Disease -log(P) Hits PubMed IDs
uremic syndrome 91 50
drusen 81.2 16
maculopathy age-related 81.1 15
glomerulonephritis membranoproliferative 80.2 14
anemia hemolytic microangiopathic 74.4 2

Relevant External Links for CFH

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

Publications for CFH Gene

  1. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (PMID: 10577907) Ying L. … Landau D. (Am. J. Hum. Genet. 1999) 3 4 23 49
  2. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. (PMID: 14583443) Caprioli J. … Noris M. (Hum. Mol. Genet. 2003) 3 4 23 49
  3. Complement factor H polymorphism in age-related macular degeneration. (PMID: 15761122) Klein R.J. … Hoh J. (Science 2005) 3 4 23 49
  4. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. (PMID: 15870199) Hageman G.S. … Allikmets R. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23 49
  5. Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study. (PMID: 16229850) Zee R.Y. … Ridker P.M. (Atherosclerosis 2006) 3 23 49

Products for CFH Gene

Sources for CFH Gene

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