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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CFP Gene

protein-coding   GIFtS: 63
GCID: GC0XM047484

Complement Factor Properdin

(Previous names: properdin P factor, complement)
(Previous symbol: PFC)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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   

Export aliases for CFP gene to outside databases

Previous GC identifers: GC0XM047368 GC0XM045196


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and complement deficiency, and among its related super-pathways are Immune response Lectin induced complement pathway and Initial triggering of complement. An important paralog of this gene is BAI1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CFP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PROP_HUMAN, P27918 (See protein sequence)
Recommended Name: Properdin precursor  
Size: 469 amino acids; 51276 Da
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27918

  • CFP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000380189   ENSP00000366204   ENSP00000418258   ENSP00000247153  
    Reactome Protein details: P27918
    Human Recombinant Protein Products for CFP: 
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    GenScript Custom Purified and Recombinant Proteins Services for CFP
    Novus Biologicals CFP Proteins
    Novus Biologicals CFP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFP 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    CFP for ontologies           About GeneDecksing



    CFP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CFP 

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    Cloud-Clone Corp. ELISAs for CFP 
    Cloud-Clone Corp. CLIAs for CFP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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
    Similarity: Contains 6 TSP type-1 domains


    CFP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 

    CFP for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CFP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CFP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CFP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CFP 

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CFP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Alternative complement pathway0.56
    Regulation of Complement cascade0.50
    2Classical antibody-mediated complement activation
    Initial triggering of complement0.86
    Complement cascade0.76
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Activation of C3 and C5
    Alternative complement activation0.33
    Activation of C3 and C50.33
    5Influenza A
    Herpes simplex infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CFP
        Immune response Alternative complement pathway


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


    5/7        Reactome Pathways for CFP (see all 7)
        Alternative complement activation
    Regulation of Complement cascade
    Activation of C3 and C5
    Complement cascade
    Immune System


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


    CFP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CFP

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

    5/11 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): 5/6 biological process terms (GO ID links to tree view) (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

    CFP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CFP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CFP (PROP)

    10/14 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)

    Search CenterWatch for drugs/clinical trials and news about CFP / PROP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CFP
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFP
    Clone
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    OriGene ORF clones in mouse, rat for CFP
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    GenScript: all cDNA clones in your preferred vector (see all 2): CFP (NM_002621)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFP
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                         Customized lentivirus expression plasmids for stable overexpression of CFP 
    Primer
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    OriGene qPCR primer pairs and template standards for CFP
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFP
      QIAGEN 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 

    24/65 AceView cDNA sequences (see all 65):

    BI766222 NM_002621 X57748 BM920180 CA306934 BI768946 BU615928 BI836039 
    CD368185 BC015756 CD615209 BQ067280 BM926583 CD615198 CD615205 BG759290 
    CA448790 T27930 BI771282 AW337862 CD615199 BI770026 M83652 BM007993 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CFP expression in normal human tissues (normalized intensities)      CFP embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Blood (Hematopoietic System)
     
     Spleen (Hematopoietic System)

    See CFP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFP

    SOURCE GeneReport for Unigene cluster: Hs.53155
        SABiosciences Custom PCR Arrays for CFP
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CFP gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfp1 , 5 complement factor properdin1, 5 81.08(n)1
    77.07(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 si:dkeyp-22b2.31 si:dkeyp-22b2.3 49.85(n)
    42.82(a)
      556399  NM_001160126.1  NP_001153598.1 


    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)
    About This Section
    Paralogs for CFP gene
    BAI12  UNC5B2  UNC5CL2  UNC5C2  BAI32  BAI22  UNC5A2  UNC5D2  
    4 SIMAP similar genes for CFP using alignment to 5 protein entries:     PROP_HUMAN (see all proteins):
    DKFZp762L185    HMCN1    UNC5C    UNC5A

    CFP for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/163 SNPs in CFP are shown (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
    ----------
    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--------
    rs289354801,2,4
    CProperdin deficiency (PFD)4 pathogenic147405786(-) TGCTGG/TCGATG 4 G V mis1 ese30--------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/48 diseases for CFP (see all 48):    About MalaCards
    properdin deficiency    complement deficiency    meningococcal infection    subacute bacterial endocarditis
    acute poststreptococcal glomerulonephritis    scabies    bacterial meningitis    properdin deficiency, x-linked
    complement factor i deficiency    endocarditis    hyperopia    membranoproliferative glomerulonephritis
    protein c deficiency    herpes gestationis    wiskott-aldrich syndrome    meningitis
    agammaglobulinemia    meningococcemia    afibrinogenemia    glomerulonephritis

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

    CFP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/37 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)
    About This Section

    PubMed articles for CFP gene, integrated from 9 sources (see all 216):
    (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. (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. (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. (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. (2000)
    5. Properdin, the positive regulator of complement, is highly C- mannosylated. (PubMed id 10878002)1, 2, 9 Hartmann S. and Hofsteenge J. (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. (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. (1992)
    8. Genetic and physical mapping around the properdin P gene. (PubMed id 1783405)1, 3, 9 Coleman M.P....Davies K.E. (1991)
    9. Characterization of the human properdin gene. (PubMed id 1417780)1, 2, 9 Nolan K.F.... Reid K.B.M. (1992)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5199 HGNC: 8864 AceView: PFC Ensembl:ENSG00000126759 euGenes: HUgn5199
    ECgene: CFP Kegg: 5199 H-InvDB: CFP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CFP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFP
    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.)
    About This Section
    Patent Information for CFP gene:
    Search GeneIP for patents involving CFP

    GeneCards and IP:
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