CFP Gene (Protein Coding)

Complement Factor Properdin

GC0XM047624
GIFtS:
43
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 i... See more...

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
  • Properdin 3 4
  • PFC 3 4
  • PROPERDIN 3
  • 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 Metabolism of proteins and Innate Immune System.

UniProtKB/Swiss-Prot Summary for CFP Gene

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

Additional gene information for CFP Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFP Gene

Genomics for CFP Gene

GeneHancer (GH) Regulatory Elements for CFP Gene

Promoters and enhancers for CFP Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ047628 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.7 +0.1 138 2 RELA RUNX1 RAD21 TRIM22 BCL11A TCF12 CTCF CBFB SMC3 SRF CFP ENSG00000283743 lnc-SYN1-1 ELK1 TIMP1
GH0XJ047629 Promoter 0.5 Ensembl 500.7 +1.6 1604 0.2 IKZF1 ZKSCAN8 CFP ENSG00000283743 lnc-SYN1-1 RF00017-8400
GH0XJ047581 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 18.2 +47.2 47237 3.5 POLR2G SP1 JUND PHF8 FOS ZFX CTCF ZIC2 POLR2A MYC JA662188 TIMP1 CFP SYN1 ARAF MIR4769 ENSG00000283743
GH0XJ047559 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.7 +67.9 67876 5.4 FOXK2 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 POLR2G SP1 BCLAF1 ARAF CFP CDK16 lnc-SYN1-4
GH0XJ047632 Enhancer 1.1 FANTOM5 ENCODE 14.1 -3.6 -3621 3.2 ZIC2 ZNF423 TRIM28 RELA TRIM22 OSR2 TCF12 MYNN ARNT CEBPB CFP ARAF UXT-AS1 lnc-ELK1-1 ELK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFP

Top Transcription factor binding sites by QIAGEN in the CFP gene promoter:
  • CREB
  • deltaCREB
  • NRSF form 1
  • NRSF form 2
  • STAT3

Genomic Locations for CFP Gene

Genomic Locations for CFP Gene
chrX:47,623,172-47,630,305
(GRCh38/hg38)
Size:
7,134 bases
Orientation:
Minus strand
chrX:47,483,612-47,489,704
(GRCh37/hg19)
Size:
6,093 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for CFP Gene

Proteins for CFP Gene

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

    Protein Symbol:
    P27918-PROP_HUMAN
    Recommended name:
    Properdin
    Protein Accession:
    P27918
    Secondary Accessions:
    • O15134
    • O15135
    • O15136
    • O75826

    Protein attributes for CFP Gene

    Size:
    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.

    Three dimensional structures from OCA and Proteopedia for CFP Gene

neXtProt entry for CFP Gene

Protein Expression for CFP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CFP Gene

  • Glycosylation at Trp83, Trp86, Thr92, Trp139, Trp142, Trp145, Thr151, Trp196, Trp199, Ser208, Trp260, Trp263, Thr272, Trp321, Trp324, Trp382, Trp385, Trp388, and Asn428
  • Modification sites at PhosphoSitePlus

Other Protein References for CFP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFP Gene

Domains & Families for CFP Gene

Gene Families for CFP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CFP Gene

Blocks:
  • Thrombospondin, type I
  • Thrombospondin type 1 repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16673 fis, clone THYMU3003403, highly similar to Properdin (B3KVK6_HUMAN)
  • Complement factor P (PROP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27918

UniProtKB/Swiss-Prot:

PROP_HUMAN :
  • TSP type-1 domains 0 and 6 bind to each other and mediate multimerization.
Domain:
  • 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

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  2. CRISPR
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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.

Gene Ontology (GO) - Molecular Function for CFP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28480349
genes like me logo Genes that share ontologies with CFP: view
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:
  • Cfp Cfp<tm1Cmst>
  • Cfp Cfp<tm1Song>

Animal Model Products

CRISPR Products

miRNA for CFP Gene

miRTarBase miRNAs that target CFP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for CFP Gene

Localization for CFP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 3
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 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 IEA,TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0030141 secretory granule IEA --
GO:0035580 specific granule lumen TAS --
genes like me logo Genes that share ontologies with CFP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFP Gene

Pathways & Interactions for CFP Gene

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

Pathways by source for CFP Gene

1 BioSystems pathway for CFP Gene
1 KEGG pathway for CFP Gene
1 GeneGo (Thomson Reuters) pathway for CFP Gene
  • Immune response Alternative complement pathway
1 Qiagen pathway for CFP Gene
  • Alternative Complement Pathway

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:0042742 defense response to bacterium TAS 8530058
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

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  1. Drug

(7) Drugs for CFP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CFP Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for CFP Gene

GeneLoc Exon Structure for
CFP

Expression for CFP Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CFP Gene
mRNA expression by GTEx for CFP GenemRNA expression by BioGPS 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 and MOPED for CFP Gene



Protein tissue co-expression partners for CFP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFP

SOURCE GeneReport for Unigene cluster for CFP Gene:

Hs.53155

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
Systems:
  • immune
Regions:
Abdomen:
  • liver
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CFP: view

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
chimpanzee
(Pan troglodytes)
 Mammalia CFP 31 30
  • 99.29 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CFP 31 30
  • 82.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CFP 31 30
  • 82.38 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cfp 30
  • 81.57 (n)
mouse
(Mus musculus)
 Mammalia Cfp 17 31 30
  • 81.31 (n)
oppossum
(Monodelphis domestica)
 Mammalia CFP 31
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CFP 31
  • 58 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CFP 31
  • 50 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii cfp 31 30
  • 50.04 (n)
 OneToMany
CFP (1 of 2) 31
  • 42 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta unc-5 31
  • 9 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea unc-5 31
  • 9 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8480 31
  • 14 (a)
 ManyToMany
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

ENSEMBL:
Gene Tree for CFP (if available)
TreeFam:
Gene Tree for CFP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFP: view image

Paralogs for CFP Gene

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

  • PROP_HUMAN
  • B3KVK6_HUMAN
  • C9J7V5_HUMAN
  • E9PAQ1_HUMAN
  • L0R836_HUMAN
genes like me logo Genes that share paralogs with CFP: view

No data available for Paralogs for CFP Gene

Variants for CFP Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1020912849 Likely Benign: not provided 47,629,827(-) C/T SYNONYMOUS_VARIANT
rs1048118 Benign: not specified 47,624,401(-) G/A SYNONYMOUS_VARIANT
rs132630258 Pathogenic: Properdin deficiency, X-linked 47,627,564(-) G/A NONSENSE
rs132630259 Pathogenic: Properdin deficiency, type II. Properdin deficiency (PFD) [MIM:312060] 47,628,207(-) G/Ap.Arg100Trp MISSENSE_VARIANT
rs132630260 Pathogenic: Properdin deficiency, X-linked 47,627,290(-) G/C NONSENSE

Additional dbSNP identifiers (rs#s) for CFP Gene

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)

Additional Variant Information for CFP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CFP Gene

MalaCards: The human disease database

(39) MalaCards diseases for CFP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

PROP_HUMAN
  • 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.

Additional Disease Information for CFP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (The Journal of biological chemistry 2000) 3 4 23 54
  2. Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. (PMID: 10909851) van den Bogaard R … Mannens MM (European journal of human genetics : EJHG 2000) 3 4 23 54
  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 GN … Truedsson L (Journal of clinical immunology 1998) 3 4 23 54
  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 GN … Truedsson L (Journal of immunology (Baltimore, Md. : 1950) 1996) 3 4 23 54
  5. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. (PMID: 8530058) Westberg J … Uhlén M (Genomics 1995) 3 4 23 54

ExternalLinks

View latest publications for CFP gene in Mastermind

Products for CFP Gene

  • Boster Bio Antibodies for CFP
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Sources for CFP Gene