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CFP Gene

protein-coding   GIFtS: 65
GCID: GC0XM047484

Complement Factor Properdin

(Previous names: properdin P factor, complement)
(Previous symbol: PFC)
  See CFP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Complement Factor Properdin1 2     PFD2 5
PFC1 2 3 5     BFD2
Properdin P Factor, Complement1 2     PROPERDIN2
Complement Factor P2 3     properdin2

External Ids:    HGNC: 88641   Entrez Gene: 51992   Ensembl: ENSG000001267597   OMIM: 3003835   UniProtKB: P279183   
ORGUL members:         

Export aliases for CFP gene to outside databases

Previous GC identifers: GC0XM047368 GC0XM045196


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 scabies, and endocarditis. An important paralog of this gene is UNC5B.

UniProtKB/Swiss-Prot: PROP_HUMAN, P27918
Function: A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and
C5-convertase enzyme complexes




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFP gene promoter:
         CREB   deltaCREB   NRSF form 1   STAT3   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CFP promoter sequence
   Search Chromatin IP Primers for CFP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.4

CFP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFP gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM047484:  view genomic region     (about GC identifiers)

Start:
47,483,612 bp from pter      End:
47,489,704 bp from pter
Size:
6,093 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PROP_HUMAN, P27918 (See protein sequence)
Recommended Name: Properdin precursor  
Size: 469 amino acids; 51276 Da
Subunit: In plasma, properdin exists as dimers, trimers or tetramers in the relative proportions of 26:54:20
Sequence caution: Sequence=CAA15658.1; Type=Erroneous gene model prediction;
2 PDB 3D structures from and Proteopedia for CFP:
1W0R (3D)        1W0S (3D)    
Secondary accessions: O15134 O15135 O15136 O75826

Explore the universe of human proteins at neXtProt for CFP: NX_P27918

Explore proteomics data for CFP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Trp83, Trp86, Thr92, Trp139, Trp142, Trp145, Thr151, Trp196, Trp199, Ser208,
                                 Trp260, Trp263, Thr272, Trp321, Trp324, Trp382, Trp385, Trp388, Asn428

  • See CFP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138724.1  NP_002612.1  

    ENSEMBL proteins: 
     ENSP00000380189   ENSP00000366204   ENSP00000418258   ENSP00000247153  
    Reactome Protein details: P27918

    CFP Human Recombinant Protein Products:

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    Novus Biologicals CFP Proteins
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CFP

     
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    antibodies-online proteins for CFP (17 products) 

     
    antibodies-online peptides for CFP

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    1 InterPro protein domain:
     IPR000884 Thrombospondin_1_rpt

    Graphical View of Domain Structure for InterPro Entry P27918

    ProtoNet protein and cluster: P27918

    2 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB008085 Thrombospondin type 1 repeat signature


    UniProtKB/Swiss-Prot: PROP_HUMAN, P27918
    Domain: TSP type-1 domains 0 and 6 bind to each other and mediate multimerization
    Similarity: Contains 7 TSP type-1 domains


    Find genes that share domains with CFP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROP_HUMAN, P27918
    Function: A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and
    C5-convertase enzyme complexes

    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cfp):

     cardiovascular system  homeostasis/metabolism  immune system  mortality/aging  normal 
     skeleton 

    Find genes that share phenotypes with CFP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CFP: Cfptm1Cmst Cfptm1Song

       genOway: Develop your customized and physiologically relevant rodent model for CFP

    miRNA
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    miRTarBase miRNAs that target CFP:
    hsa-mir-335-5p (MIRT016885)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROP_HUMAN, P27918: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS8530058
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with CFP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CFP About    
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Alternative complement pathway0.56
    2Influenza A
    Herpes simplex infection0.33


    Find genes that share SuperPaths with CFP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CFP
        Alternative Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for CFP
        Immune response Alternative complement pathway


    4 Reactome Pathways for CFP
        O-glycosylation of TSR domain-containing proteins
    Alternative complement activation
    Regulation of Complement cascade
    Activation of C3 and C5


    1 Kegg Pathway  (Kegg details for CFP):
        Herpes simplex infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFP
    Interactions:

        GeneGlobe Interaction Network for CFP

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for CFP (P279182, 3 ENSP000002471534) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFBP007513, ENSP000004165614I2D: score=3 STRING: ENSP00000416561
    ENSG00000239754P007513I2D: score=3 
    ENSG00000241253P007513I2D: score=3 
    ENSG00000241534P007513I2D: score=3 
    ENSG00000242335P007513I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS8530058
    GO:0006956complement activation TAS--
    GO:0006957complement activation, alternative pathway TAS--
    GO:0030449regulation of complement activation TAS--
    GO:0042742defense response to bacterium TAS8530058

    Find genes that share ontologies with CFP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFP (PROP)

    Selected Novoseek inferred chemical compound relationships for CFP gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antistasin 66 3 2303431 (2), 1376110 (1)
    anaphylatoxin 46.8 1 1431125 (1)
    sulfatide 45.7 5 2303431 (3), 7499866 (2)
    procollagen 29.4 1 1426766 (1)
    mannan 23.8 2 2311294 (1), 16785571 (1)
    dextran sulfate 20 2 2303431 (1)
    polysaccharide 4 1 9844044 (1)
    magnesium 0 2 2311294 (1), 2247091 (1)
    phosphorus 0 1 12175049 (1)
    mannose 0 1 17294226 (1)



    Find genes that share compounds with CFP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CFP gene (2 alternative transcripts): 
    NM_001145252.1  NM_002621.2  

    Unigene Cluster for CFP:

    Complement factor properdin
    Hs.53155  [show with all ESTs]
    Unigene Representative Sequence: AK122955
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478222 ENST00000396992(uc004dig.4) ENST00000485991(uc004dii.1 uc010nhu.2)
    ENST00000377005 ENST00000469388 ENST00000480317 ENST00000247153(uc004dih.3)

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFP
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFP
      QuantiTect SYBR Green Assays in human, mouse, rat CFP
      QuantiFast Probe-based Assays in human, mouse, rat CFP

    Additional mRNA sequence: 

    AK122955.1 AK310695.1 BC015756.1 M83652.1 X57748.1 

    5 DOTS entries:

    DT.451595  DT.101976133  DT.99969188  DT.86847019  DT.92417183 

    Selected AceView cDNA sequences (see all 65):

    BI768946 CD615209 BI836039 BM920180 NM_002621 X57748 CD368185 BI766222 
    CA306934 BQ067280 BU615928 BC015756 BM918830 T27930 BI771282 CD615199 
    CA448790 CD615202 BM007993 BG341989 BI770026 CD615198 AW337862 BM926583 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTACACGTG
    CFP Expression
    About this image


    CFP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Spleen (Hematopoietic System)
    CFP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.53155
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CFP gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfp1 , 5 complement factor properdin1, 5 81.31(n)1
    77.25(a)1
      X (16.44 cM)5
    186361  NM_008823.31  NP_032849.21 
     209254545 
    lizard
    (Anolis carolinensis)
    Reptilia CFP6
    complement factor properdin
    50(a)
    1 ↔ 1
    2(68349533-68381138)
    zebrafish
    (Danio rerio)
    Actinopterygii cfp1 complement factor properdin 50.04(n)
    42.96(a)
      556399  NM_001160126.1  NP_001153598.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-56
    unc-5
    9(a)
    1 → many
    2R(11237659-11255807)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-56
    Protein UNC-5, isoform a (unc-5) mRNA, complete cd...
    9(a)
    many ↔ many
    IV(5495666-5516265) WBGene00006745


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFP gene
    UNC5B2  BAI12  UNC5C2  UNC5A2  UNC5CL2  BAI32  BAI22  UNC5D2  
    4 SIMAP similar genes for CFP using alignment to 5 protein entries:     PROP_HUMAN (see all proteins):
    DKFZp762L185    HMCN1    UNC5C    UNC5A

    Find genes that share paralogs with CFP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFP (see all 163)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354801,2,,4
    CProperdin deficiency (PFD)4 pathogenic147405786(-) TGCTGG/TCGATG 4 G V mis1 ese30--------
    VAR_0020034
    Properdin deficiency (PFD)4--see VAR_0020032 Q R mis40--------
    VAR_0020024
    Properdin deficiency (PFD)4--see VAR_0020022 R W mis40--------
    VAR_0020044
    Properdin deficiency (PFD)4--see VAR_0020042 Y D mis40--------
    VAR_0358134
    A breast cancer sample4--see VAR_0358132 T I mis40--------
    rs1817944021,2
    --47403890(+) AATGCG/TGGTGA 2 -- int10--------
    rs81770801,2
    C,F,H--47404156(-) ATTGAG/AAGAAC 2 -- int18Minor allele frequency- A:0.02NS NA 878
    rs558062031,2
    C--47404235(+) TCAGGC/TCCCAC 2 -- int10--------
    rs22394551,2
    C,F,H--47404247(-) GAGGGT/GGTTAG 2 -- int117Minor allele frequency- G:0.82NS EA NA CSA 1980
    rs1385815451,2
    --47404326(+) TTGATA/GTATGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for CFP (47483612 - 47489704 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CFP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv438130CNV Loss16468122

    Human Gene Mutation Database (HGMD): CFP
    Locus Specific Mutation Databases (LSDB): CFP

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CFP
    DNA2.0 Custom Variant and Variant Library Synthesis for CFP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300383   
    OMIM disorders: 312060  
    UniProtKB/Swiss-Prot: PROP_HUMAN, P27918
  • 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). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for CFP (see all 21):    
    About MalaCards
    scabies    endocarditis    subacute bacterial endocarditis    properdin deficiency, x-linked
    acute poststreptococcal glomerulonephritis    properdin deficiency    complement deficiency    hyperopia
    complement factor i deficiency    mannose-binding lectin deficiency    bacterial meningitis    protein c deficiency
    membranoproliferative glomerulonephritis    meningococcal infection    meningitis    meningococcemia
    septic shock    afibrinogenemia    proteinuria    glomerulonephritis

    5 diseases from the University of Copenhagen DISEASES database for CFP:
    Complement deficiency     Nephritis     Meningitis     Lupus erythematosus
    Connective tissue disease

    Find genes that share disorders with CFP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CFP gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    complement deficiency 86.6 2 19388594 (1), 7660072 (1)
    meningococcal diseases 80.8 28 8241670 (3), 8469932 (3), 7501623 (2), 17916747 (2) (see all 18)
    afibrinogenemia 61.5 2 9476132 (1), 19388157 (1)
    glomerulonephritis membranoproliferative 59.5 1 17294226 (1)
    hypocomplementemia 56.1 1 2205097 (1)
    acute poststreptococcal glomerulonephritis 53.9 1 1996575 (1)
    meningitis meningococcal 53.4 1 19419829 (1)
    agammaglobulinemia 50.3 1 12522751 (1)
    glomerulonephritis 47.7 6 8018502 (1), 19067130 (1), 8604713 (1), 8809142 (1) (see all 6)
    meningitis bacterial 45.7 1 17062484 (1)

    Genetic Association Database (GAD): CFP
    Human Genome Epidemiology (HuGE) Navigator: CFP (5 documents)

    Export disorders for CFP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CFP gene, integrated from 10 sources (see all 217):
    (articles sorted by number of sources associating them with CFP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 9710744)1, 2, 9 Fredrikson G.N....Truedsson L. (J. Clin. Immunol. 1998)
    2. 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. (PubMed id 8871668)1, 2, 9 Fredrikson G.N.... Truedsson L. (J. Immunol. 1996)
    3. Molecular cloning of the cDNA coding for properdin, a positive regulator of the alternative pathway of human complement. (PubMed id 2009915)1, 2, 9 Nolan K.F.... Reid K.B.M. (Eur. J. Immunol. 1991)
    4. Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. (PubMed id 10909851)1, 2, 9 van den Bogaard R.... Mannens M.M.A.M. (Eur. J. Hum. Genet. 2000)
    5. Properdin, the positive regulator of complement, is highly C- mannosylated. (PubMed id 10878002)1, 2, 9 Hartmann S. and Hofsteenge J. (J. Biol. Chem. 2000)
    6. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. (PubMed id 8530058)1, 2, 9 Westberg J.... Uhlen M. (Genomics 1995)
    7. Detection of properdin mRNA in human peripheral blood monocytes and spleen. (PubMed id 1431505)1, 2, 9 Weiler J.M. and Maves K.K. (J. Lab. Clin. Med. 1992)
    8. Genetic and physical mapping around the properdin P gene. (PubMed id 1783405)1, 3, 9 Coleman M.P....Davies K.E. (Genomics 1991)
    9. Characterization of the human properdin gene. (PubMed id 1417780)1, 2, 9 Nolan K.F.... Reid K.B.M. (Biochem. J. 1992)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5199 HGNC: 8864 AceView: PFC Ensembl:ENSG00000126759 euGenes: HUgn5199
    ECgene: CFP Kegg: 5199 H-InvDB: CFP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CFP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFP[genesymbol]
    CFPbasehttp://bioinf.uta.fi/CFPbase/
    SeattleSNPshttp://pga.gs.washington.edu/data/pfc/
    Wikipedia http://en.wikipedia.org/wiki/Properdin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFP gene:
    Search GeneIP for patents involving CFP

    GeneCards and IP:
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