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Aliases for CFP Gene

Aliases for CFP Gene

  • Complement Factor Properdin 2 3 5
  • Properdin P Factor, Complement 2 3
  • Complement Factor P 3 4
  • PFC 3 4
  • BFD 3
  • PFD 3

External Ids for CFP Gene

Previous HGNC Symbols for CFP Gene

  • PFC

Previous GeneCards Identifiers for CFP Gene

  • GC0XM047368
  • GC0XM047484
  • GC0XM045196

Summaries for CFP Gene

Entrez Gene Summary for CFP Gene

  • This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]

GeneCards Summary for CFP Gene

CFP (Complement Factor Properdin) is a Protein Coding gene. Diseases associated with CFP include Properdin Deficiency, X-Linked and Properdin Deficiency. Among its related pathways are Complement Pathway and Innate Immune System. An important paralog of this gene is ADGRB1.

UniProtKB/Swiss-Prot for CFP Gene

  • A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.

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

Genomics for CFP Gene

Regulatory Elements for CFP Gene

Enhancers for CFP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG047559 1.4 FANTOM5 ENCODE 10.7 +67.9 67876 5.4 HDGF PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 YY1 ZNF766 FOS LINC01560 CFP ZNF182 ZNF630 ARAF CDK16 GC0XP047572 GC0XP047571
GH0XG047578 1.3 FANTOM5 Ensembl ENCODE 10.5 +50.8 50820 1.8 TBP ZNF792 MAX ZNF316 FOS MAFK NFE2L2 TCF7L2 ZNF740 CEBPB CFP ARAF TIMP1 GC0XP047573
GH0XG047498 0.8 ENCODE dbSUPER 12.3 +131.7 131709 0.2 CTBP1 GATA3 RAD51 CEBPB DPF2 SYN1 CFP LINC01560 GC0XP047511 ZNF41
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFP on UCSC Golden Path with GeneCards custom track

Genomic Location for CFP Gene

47,623,172 bp from pter
47,630,305 bp from pter
7,134 bases
Minus strand

Genomic View for CFP Gene

Genes around CFP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFP Gene

Proteins for CFP Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O15134
    • O15135
    • O15136
    • O75826

    Protein attributes for CFP Gene

    469 amino acids
    Molecular mass:
    51276 Da
    Quaternary structure:
    • In plasma, properdin exists as dimers, trimers or tetramers in the relative proportions of 26:54:20.
    • Sequence=CAA15658.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFP Gene

neXtProt entry for CFP Gene

Post-translational modifications for CFP Gene

  • Glycosylation at posLast=8383, Trp86, posLast=9292, Trp139, posLast=142142, posLast=145145, Thr151, posLast=196196, Trp199, Ser208, Trp260, Trp263, Thr272, Trp321, Trp324, posLast=382382, posLast=385385, Trp388, and Asn428
  • Modification sites at PhosphoSitePlus

Other Protein References for CFP Gene

Antibody Products

Assay Products

No data available for DME Specific Peptides for CFP Gene

Domains & Families for CFP Gene

Gene Families for CFP Gene

Protein Domains for CFP Gene

Suggested Antigen Peptide Sequences for CFP Gene

Graphical View of Domain Structure for InterPro Entry



  • TSP type-1 domains 0 and 6 bind to each other and mediate multimerization.
  • TSP type-1 domains 0 and 6 bind to each other and mediate multimerization.
genes like me logo Genes that share domains with CFP: view

Function for CFP Gene

Molecular function for CFP Gene

UniProtKB/Swiss-Prot Function:
A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.
genes like me logo Genes that share phenotypes with CFP: view

Human Phenotype Ontology for CFP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFP Gene

MGI Knock Outs for CFP:

Animal Model Products

CRISPR Products

miRNA for CFP Gene

miRTarBase miRNAs that target CFP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CFP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CFP Gene

Localization for CFP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFP 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 CFP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 8530058
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0035580 specific granule lumen TAS --
genes like me logo Genes that share ontologies with CFP: view

Pathways & Interactions for CFP Gene

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

Pathways by source for CFP Gene

1 GeneGo (Thomson Reuters) pathway for CFP Gene
1 Qiagen pathway for CFP Gene

Gene Ontology (GO) - Biological Process for CFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 8530058
GO:0006956 complement activation TAS --
GO:0006957 complement activation, alternative pathway TAS --
GO:0030449 regulation of complement activation TAS --
GO:0036066 protein O-linked fucosylation TAS --
genes like me logo Genes that share ontologies with CFP: view

No data available for SIGNOR curated interactions for CFP Gene

Drugs & Compounds for CFP Gene

(5) Drugs for CFP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for CFP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFP: view

Transcripts for CFP Gene

Unigene Clusters for CFP Gene

Complement factor properdin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CFP

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

No ASD Table

Relevant External Links for CFP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x37.4) and Spleen (x6.2).

Protein differential expression in normal tissues from HIPED for CFP Gene

This gene is overexpressed in Serum (26.5), Plasma (16.3), Cervix (12.3), and Synovial fluid (8.4).

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

Protein tissue co-expression partners for CFP Gene

NURSA nuclear receptor signaling pathways regulating expression of CFP Gene:


SOURCE GeneReport for Unigene cluster for CFP Gene:


Evidence on tissue expression from TISSUES for CFP Gene

  • Spleen(4.5)
  • Bone marrow(4.3)
  • Blood(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFP Gene

Germ Layers:
  • endoderm
  • immune
  • liver
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CFP: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CFP Gene

Orthologs for CFP Gene

This gene was present in the common ancestor of animals.

Orthologs for CFP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CFP 34 35
  • 99.29 (n)
(Canis familiaris)
Mammalia CFP 34 35
  • 82.4 (n)
(Bos Taurus)
Mammalia CFP 34 35
  • 82.38 (n)
(Rattus norvegicus)
Mammalia Cfp 34
  • 81.57 (n)
(Mus musculus)
Mammalia Cfp 34 16 35
  • 81.31 (n)
(Monodelphis domestica)
Mammalia CFP 35
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia CFP 35
  • 58 (a)
(Anolis carolinensis)
Reptilia CFP 35
  • 50 (a)
(Danio rerio)
Actinopterygii cfp 34 35
  • 50.04 (n)
CFP (1 of 2) 35
  • 42 (a)
fruit fly
(Drosophila melanogaster)
Insecta unc-5 35
  • 9 (a)
(Caenorhabditis elegans)
Secernentea unc-5 35
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8480 35
  • 14 (a)
Species where no ortholog for CFP 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 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)

Evolution for CFP Gene

Gene Tree for CFP (if available)
Gene Tree for CFP (if available)

Paralogs for CFP Gene

Paralogs for CFP Gene

(4) SIMAP similar genes for CFP Gene using alignment to 5 proteins:

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

Variants for CFP Gene

Sequence variations from dbSNP and Humsavar for CFP Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs132630259 Pathogenic, Properdin deficiency (PFD) [MIM:312060] 47,628,207(-) AGCTG(C/T)GGTAC reference, missense, utr-variant-5-prime
rs132630261 Pathogenic, Properdin deficiency (PFD) [MIM:312060] 47,626,062(-) CCAAG(C/G/T)ACCCG reference, missense
rs28935480 Pathogenic, Properdin deficiency (PFD) [MIM:312060] 47,626,820(-) TGCTG(G/T)CGATG reference, missense
VAR_002003 Properdin deficiency (PFD) [MIM:312060]
VAR_035813 A breast cancer sample

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

Variant ID Type Subtype PubMed ID
nsv1141672 CNV duplication 24896259
nsv438130 CNV loss 16468122

Variation tolerance for CFP Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 34.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFP Gene

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

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

Disorders for CFP Gene

MalaCards: The human disease database

(31) MalaCards diseases for CFP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
properdin deficiency, x-linked
  • pfd
properdin deficiency
  • properdin deficiency disease
complement deficiency
  • complement deficiency disease
acute poststreptococcal glomerulonephritis
  • post-streptococcal glomerulonephritis
neisseria meningitidis infection
  • meningococcal disease
- elite association - COSMIC cancer census association via MalaCards
Search CFP in MalaCards View complete list of genes associated with diseases


  • Properdin deficiency (PFD) [MIM:312060]: Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). {ECO:0000269 PubMed:10909851, ECO:0000269 PubMed:8871668, ECO:0000269 PubMed:9710744}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CFP

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 CFP: view

No data available for Genatlas for CFP Gene

Publications for CFP Gene

  1. Properdin, the positive regulator of complement, is highly C- mannosylated. (PMID: 10878002) Hartmann S. … Hofsteenge J. (J. Biol. Chem. 2000) 3 4 22 64
  2. Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. (PMID: 10909851) van den Bogaard R. … Mannens M.M.A.M. (Eur. J. Hum. Genet. 2000) 3 4 22 64
  3. Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. (PMID: 9710744) Fredrikson G.N. … Truedsson L. (J. Clin. Immunol. 1998) 3 4 22 64
  4. Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. (PMID: 8871668) Fredrikson G.N. … Truedsson L. (J. Immunol. 1996) 3 4 22 64
  5. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. (PMID: 8530058) Westberg J. … Uhlen M. (Genomics 1995) 3 4 22 64

Products for CFP Gene

Sources for CFP Gene

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