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CFD Gene

protein-coding   GIFtS: 65
GCID: GC19P000859

Complement Factor D (Adipsin)

(Previous names: D component of complement (adipsin), properdin factor D)
(Previous symbols: DF, PFD)
Pneumococci & Pneumococcal 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)
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Aliases
Complement Factor D (Adipsin)1 2     ADN2 5
Properdin Factor D1 2 3     ADIPSIN2
DF1 2 3     Complement Factor D2
PFD1 2 3     Complement Factor D Preproprotein2
D Component Of Complement (Adipsin)1 2     Adipsin3
C3 Convertase Activator2 3     EC 3.4.218
EC 3.4.21.463 8     

External Ids:    HGNC: 27711   Entrez Gene: 16752   Ensembl: ENSG000001977667   OMIM: 1343505   UniProtKB: P007463   

Export aliases for CFD gene to outside databases

Previous GC identifers: GC02U900222 GC19P000811 GC19P000628


(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 CFD Gene:
The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a
component of the alternative complement pathway best known for its role in humoral suppression of infectious
agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the
encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system
biology. (provided by RefSeq, Jul 2008)

GeneCards Summary for CFD Gene:
CFD (complement factor D (adipsin)) is a protein-coding gene. Diseases associated with CFD include complement factor d deficiency, and meningococcal infection. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is GZMH.

UniProtKB/Swiss-Prot: CFAD_HUMAN, P00746
Function: Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex,
which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the
classical pathway




(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:
NC_000019.10  NC_018930.2  NT_011295.12  NT_187622.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFD gene promoter:
         GR   AML1a   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFD promoter sequence
   Search Chromatin IP Primers for CFD

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


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P000859:  view genomic region     (about GC identifiers)

Start:
859,453 bp from pter      End:
863,624 bp from pter
Size:
4,172 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CFAD_HUMAN, P00746 (See protein sequence)
Recommended Name: Complement factor D precursor  
Size: 253 amino acids; 27033 Da
Sequence caution: Sequence=AAA35527.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for CFD (see all 13):
1BIO (3D)        1DFP (3D)        1DIC (3D)        1DST (3D)        1DSU (3D)        1FDP (3D)    
Secondary accessions: B4DV76 Q5U5S1 Q86VJ5 Q8N4E0 Q8WZB4

Explore the universe of human proteins at neXtProt for CFD: NX_P00746

Explore proteomics data for CFD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys205
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CFD (P00746) (see all 6)
     RPYMASV  GDSGGPL  CKGDSGG  SGGPLVC 


    See CFD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001919.2  
    ENSEMBL proteins: 
     ENSP00000332139   ENSP00000468253  
    Reactome Protein details: P00746

    CFD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CFD
    GenScript Custom Purified and Recombinant Proteins Services for CFD
    Novus Biologicals CFD Proteins
    Sino Biological Recombinant Protein for CFD
    Sino Biological Cell Lysate for CFD
    ProSpec Recombinant Protein for CFD
    Cloud-Clone Corp. Proteins for CFD

    CFD Antibody Products:

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    Novus Biologicals CFD Antibodies
    Abcam antibodies for CFD
    Cloud-Clone Corp. Antibodies for CFD
    ThermoFisher Antibodies for CFD
    LSBio Antibodies in human, mouse, rat for CFD

    CFD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for CFD (Complement Factor D/Adipsin)         (see all)
    GenScript Custom Assay Services for CFD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CFD
    Cloud-Clone Corp. CLIAs for CFD


    (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

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P00746

    ProtoNet protein and cluster: P00746

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: CFAD_HUMAN, P00746
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    CFD 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CFAD_HUMAN, P00746
    Function: Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex,
    which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the
    classical pathway
    Catalytic activity: Selective cleavage of Arg- -Lys bond in complement factor B when in complex with complement
    subcomponent C3b or with cobra venom factor

         Enzyme Numbers (IUBMB): EC 3.4.21.461 2 EC 3.4.212

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0008236serine-type peptidase activity TAS1374388
         
    CFD for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cfd):
     immune system  no phenotypic analysis 

    CFD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CFD: Cfdtm1Yxu Cfdtm1Pa

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CFD

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

    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CFD
    Predesigned siRNA for gene silencing in human, mouse, rat CFD

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CFD

    Clone
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    OriGene clones in human, mouse for CFD (see all 6)
    OriGene ORF clones in mouse, rat for CFD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFD (NM_001928)
    Sino Biological Human cDNA Clone for CFD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFD

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CFD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFD


    (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
    CFAD_HUMAN, P00746: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    nucleus2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0031093platelet alpha granule lumen TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    CFD for ontologies           About GeneDecksing


    (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 CFD About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Alternative complement pathway0.56
    Complement Activation Pathways0.30
    2Creation of C4 and C2 activators
    Initial triggering of complement0.85
    Alternative complement activation0.00
    Complement cascade0.68
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    5Complement and coagulation cascades
    Complement and coagulation cascades0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CFD
        Alternative Complement Pathway
    Complement Pathway

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

    1 BioSystems Pathway for CFD
        Adipogenesis

    1 Sino Biological Pathway for CFD
        Complement Activation Pathways

    2 Reactome Pathways for CFD
        Platelet degranulation
    Alternative complement activation


    2 Kegg Pathways  (Kegg details for CFD):
        Complement and coagulation cascades
    Staphylococcus aureus infection


    CFD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CFD: 
              Insulin Signaling Pathway in human mouse rat
              Cardiotoxicity in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CFD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CFD (P007463 ENSP000003321394) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINF2P086973, ENSP000003218534I2D: score=3 STRING: ENSP00000321853
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    HDHD2Q9H0R43, ENSP000003006054I2D: score=1 STRING: ENSP00000300605
    SKOR2Q2VWA43I2D: score=1 
    A2MENSP000003239294STRING: ENSP00000323929
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006508proteolysis TAS1374388
    GO:0006956complement activation TAS--
    GO:0006957complement activation, alternative pathway TAS--
    GO:0007596blood coagulation TAS--

    CFD for ontologies           About GeneDecksing



    (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 CFD (CFAD)

    2 DrugBank Compounds for CFD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3,4-Dichloroisocoumarin-- --target--17139284 17016423
    Isatoic Anhydride-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for CFD gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 3-phosphate 60.6 4 2187890 (1), 2249632 (1), 1753215 (1), 9630656 (1)
    thiazolidinedione 45.8 1 9421462 (1)
    serine 45.2 16 10022823 (2), 8500532 (1), 7981199 (1), 8845746 (1) (see all 13)
    glucose 41.3 12 10464254 (2), 11208094 (1), 1753215 (1), 14749352 (1) (see all 11)
    ibmx 39.2 1 2180933 (1)
    fatty acid 37 7 2249632 (1), 1753215 (1), 12397577 (1), 17549051 (1) (see all 6)
    lipid 36.4 9 9786898 (1), 15650565 (1), 17259668 (1), 2180933 (1) (see all 7)
    troglitazone 28.7 1 10537132 (1)
    pioglitazone 26.1 1 10537132 (1)
    dexamethasone 13.9 4 9421462 (2), 2187890 (1), 2180933 (1)



    CFD for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CFD gene: 
    NM_001928.2  

    Unigene Cluster for CFD:

    Complement factor D (adipsin)
    Hs.155597  [show with all ESTs]
    Unigene Representative Sequence: BQ712715
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327726(uc002lqc.3) ENST00000592860

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCFD 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat CFD
    Clone
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    OriGene ORF clones in mouse, rat for CFD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFD (NM_001928)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFD
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CFD
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      QuantiTect SYBR Green Assays in human, mouse, rat CFD
      QuantiFast Probe-based Assays in human, mouse, rat CFD

    Additional mRNA sequence: 

    AJ313463.1 AK300963.1 BC034529.1 BC040146.1 BC051001.1 BC057807.1 CR536575.1 DQ884409.1 
    M84526.1 

    3 DOTS entries:

    DT.452870  DT.121496193  DT.121496200 

    Selected AceView cDNA sequences (see all 246):

    C00940 AW517441 BM665999 BF511127 AI673465 BM770003 CD367452 BX102074 
    CA308236 AI620331 CA427242 AW615096 AI669299 CA439627 BG742745 BM797601 
    BM823831 AI095546 AI221569 CA306553 AI349485 F24705 BI093853 BP381476 

    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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    CFD expression in normal human tissues (normalized intensities)      CFD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCACGTAG
    CFD Expression
    About this image


    CFD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Body Subcutaneous White Adipose
             Brown adipocyte-like cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Bone marrow-derived hematopoietic stem cells (family)
     
     Heart (Cardiovascular System)
     
     Skeletal Muscle (Muscoskeletal System)
    CFD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.155597
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CFD: 
              Insulin Signaling Pathway in human mouse rat
              Cardiotoxicity in human mouse rat
              Adipogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CFD
    OriGene qSTAR qPCR primer pairs in human, mouse for CFD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFD
    QuantiTect SYBR Green Assays in human, mouse, rat CFD
    QuantiFast Probe-based Assays in human, mouse, rat CFD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFD

    (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 chordates.

    Orthologs for CFD gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfd1 , 5 complement factor D (adipsin)1, 5 71.18(n)1
    66.53(a)1
      10 (39.72 cM)5
    115371  NM_013459.21  NP_038487.11 
     798908535 
    chicken
    (Gallus gallus)
    Aves CFD1 complement factor D (adipsin) 66.67(n)
    64.08(a)
      100857593  XM_003642860.2  XP_003642908.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cfd1 complement factor D (adipsin) 54.07(n)
    52.03(a)
      394945  NM_203989.1  NP_989320.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cfd1 complement factor D (adipsin) 50.76(n)
    43.15(a)
      553553  NM_001020532.1  NP_001018368.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFD gene
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  ELANE2  CMA12  AZU12  
    GZMM2  GZMB2  GZMA2  
    Selected SIMAP similar genes for CFD using alignment to 2 protein entries:     CFAD_HUMAN (see all proteins) (see all similar genes):
    DF    KLK4    GZMA    KLK2    GZMK    GZMM
    KLK11    KLK6    PRSS3    CTRB1    PRSS46    PRSS57
    KLK12    CMA1    KLK8    PRSS1    CELA1    ELANE

    CFD 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), 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 CFD (see all 210)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0348664
    Complement factor D deficiency (CFDD)4--see VAR_0348662 V G mis40--------
    VAR_0348674
    Complement factor D deficiency (CFDD)4--see VAR_0348672 C R mis40--------
    rs1048946671,2
    Cpathogenic1860686(+) GGCGTA/CGGTGC 2 * S stg10--------
    rs741763571,2
    C--857772(+) TGAACT/CCGGGA 1 -- us2k13Minor allele frequency- C:0.00NA 6
    rs1507840461,2
    --857830(+) GACGAC/TAGAGC 1 -- us2k10--------
    rs1391224571,2
    C--857967(+) AGGCGC/TGGTGG 1 -- us2k10--------
    rs1822198471,2
    --857978(+) CTCACA/GCCTGT 1 -- us2k10--------
    rs1133728391,2
    C,F--857988(+) TAATCT/ACAGCA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1873363111,2
    --858006(+) AGGCCA/GAGGCA 1 -- us2k10--------
    rs1450601431,2
    --858010(+) CGAGGC/TAGGCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CFD (859453 - 863624 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CFD (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2385CNV Insertion18451855
    nsv910329CNV Loss21882294
    nsv470101CNV Loss18288195
    dgv3561n71CNV Loss21882294
    dgv3550n71CNV Loss21882294
    nsv910292CNV Loss21882294
    dgv3558n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    dgv3552n71CNV Loss21882294
    dgv3551n71CNV Loss21882294

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

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    (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.)
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    OMIM gene information: 134350   
    OMIM disorders: 613912  
    UniProtKB/Swiss-Prot: CFAD_HUMAN, P00746
  • Complement factor D deficiency (CFDD) [MIM:613912]: An immunologic disorder characterized by increased
    susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative
    complement pathway. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CFD (see all 26):    About MalaCards
    complement factor d deficiency    meningococcal infection    mccune albright syndrome    anorexia nervosa
    age related macular degeneration    uremia    sepsis    liposarcoma
    peritonitis    hodgkin's lymphoma    non-hodgkin lymphoma    coronary heart disease
    morbid obesity    atherosclerosis    obesity    allergic rhinitis
    rhinitis    multiple sclerosis    rheumatoid arthritis    arthritis


    CFD for disorders           About GeneDecksing


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

    9 Novoseek inferred disease relationships for CFD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 47.5 15 2404973 (3), 2249632 (2), 1618777 (1), 10457151 (1) (see all 10)
    renal failure chronic 33.9 2 2395435 (1), 8190180 (1)
    necrosis 17.9 8 17950111 (2), 16640191 (1), 17234088 (1), 12397577 (1) (see all 7)
    hyperinsulinemia 17.8 2 2249632 (1), 2404973 (1)
    anorexia nervosa 12 1 9182900 (1)
    sepsis 0 2 15467500 (1), 14732814 (1)
    atherosclerosis 0 1 11169025 (1)
    tumors 0 7 17950111 (2), 12397577 (1), 15488649 (1), 15949695 (1) (see all 6)
    hyperplasia 0 1 15488649 (1)

    Genetic Association Database (GAD): CFD
    Human Genome Epidemiology (HuGE) Navigator: CFD (7 documents)

    Export disorders for CFD 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

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    PubMed articles for CFD gene, integrated from 10 sources (see all 168):
    (articles sorted by number of sources associating them with CFD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. (PubMed id 1374388)1, 2, 3, 9 White R.T.... Spiegelman B.M. (J. Biol. Chem. 1992)
    2. Crystal structure of a complement factor D mutant expressing enhanced catalytic activity. (PubMed id 7592653)1, 2, 9 Kim S.... Volanakis J.E. (J. Biol. Chem. 1995)
    3. 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)
    4. Lack of association of CFD polymorphisms with advanced age-related macular degeneration. (PubMed id 21139680)1, 4 Zeng J....Zhang K. (Mol. Vis. 2010)
    5. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (Br. J. Haematol. 2009)
    6. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PubMed id 19336475)1, 4 Drenos F....Hingorani A.D. (Hum. Mol. Genet. 2009)
    7. Structure of human factor D. A complement system protein at 2.0-A resolution. (PubMed id 8289289)1, 2 Narayana S.V.L.... Delucas L.J. (J. Mol. Biol. 1994)
    8. Amino acid sequence of human factor D of the complement system. Similarity in sequence between factor D and proteases of non-plasma origin. (PubMed id 6363133)1, 2 Johnson D.M.A.... Reid K.B.M. (FEBS Lett. 1984)
    9. Amino acid sequence of human D of the alternative complement pathway. (PubMed id 6383466)1, 2 Niemann M.A.... Volanakis J.E. (Biochemistry 1984)
    10. Partial amino acid sequence of human factor D: homology with serine proteases. (PubMed id 6987665)1, 2 Volanakis J.E.... Mole J.E. (Proc. Natl. Acad. Sci. U.S.A. 1980)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
    About This Section

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    Entrez Gene: 1675 HGNC: 2771 AceView: DF Ensembl:ENSG00000197766 euGenes: HUgn1675
    ECgene: CFD Kegg: 1675 H-InvDB: CFD

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CFD Pharmacogenomics, SNPs, Pathways
    CFDbasehttp://bioinf.uta.fi/CFDbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CFD gene:
    Search GeneIP for patents involving CFD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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