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NCF2 Gene

protein-coding   GIFtS: 69
GCID: GC01M183524

Neutrophil Cytosolic Factor 2

(Previous names: neutrophil cytosolic factor 2 (65kD, chronic granulomatous...)
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(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
Neutrophil Cytosolic Factor 21 2     P67PHOX2 3
NADPH Oxidase Activator 21 2 3     Autosomal 21
Neutrophil Cytosolic Factor 2 (65kD, Chronic Granulomatous Disease,
Autosomal 2)1 2
     Chronic Granulomatous Disease1
Neutrophil NADPH Oxidase Factor 22 3     P67-PHOX2
67 KDa Neutrophil Oxidase Factor2 3     Chronic Granulomatous Disease, Autosomal 22
NCF-22 3     Neutrophil Cytosol Factor 22
NOXA22 3     p67-phox3

External Ids:    HGNC: 76611   Entrez Gene: 46882   Ensembl: ENSG000001167017   OMIM: 6085155   UniProtKB: P198783   

Export aliases for NCF2 gene to outside databases

Previous GC identifers: GC01M181050 GC01M178953 GC01M180044 GC01M180764 GC01M180256 GC01M181791 GC01M154762


(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 NCF2 Gene:
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH
oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen
of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in
chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms.
Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq,
Jun 2010)

GeneCards Summary for NCF2 Gene:
NCF2 (neutrophil cytosolic factor 2) is a protein-coding gene. Diseases associated with NCF2 include chronic granulomatous disease due to deficiency of ncf-2, and chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii. GO annotations related to this gene include Rac GTPase binding and protein C-terminus binding. An important paralog of this gene is NOXA1.

UniProtKB/Swiss-Prot: NCF2_HUMAN, P19878
Function: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase
(necessary for superoxide production)

Gene Wiki entry for NCF2 (Neutrophil cytosolic factor 2) Gene


(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_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NCF2 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNCF2 promoter sequence
   Search Chromatin IP Primers for NCF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCF2


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

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25

NCF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCF2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M183524:  view genomic region     (about GC identifiers)

Start:
183,524,697 bp from pter      End:
183,560,056 bp from pter
Size:
35,360 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, 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: NCF2_HUMAN, P19878 (See protein sequence)
Recommended Name: Neutrophil cytosol factor 2  
Size: 526 amino acids; 59762 Da
Subunit: Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and
CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF4. Interacts (via the C-terminal SH3
domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8
and calprotectin (S100A8/9)
6 PDB 3D structures from and Proteopedia for NCF2:
1E96 (3D)        1HH8 (3D)        1K4U (3D)        1OEY (3D)        1WM5 (3D)        2DMO (3D)    
Secondary accessions: B2R6Q1 B4DKQ7 B4DQA7 E9PHJ2 E9PHX3 Q2PP06 Q8NFC7 Q9BV51
Alternative splicing: 4 isoforms:  P19878-1   P19878-2   P19878-3   P19878-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NCF2: NX_P19878

Explore proteomics data for NCF2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NCF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000424.2  NP_001121123.1  NP_001177718.1  NP_001177723.1  

    ENSEMBL proteins: 
     ENSP00000356506   ENSP00000356505   ENSP00000397228   ENSP00000406198   ENSP00000399294  
     ENSP00000407217  
    Reactome Protein details: P19878

    NCF2 Human Recombinant Protein Products:

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    Novus Biologicals NCF2 Proteins
    Novus Biologicals NCF2 Lysates
    Sino Biological Recombinant Protein for NCF2
    Sino Biological Cell Lysate for NCF2
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NCF2

    NCF2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NCF2
    R&D Systems Antibodies for NCF2 (p67phox)
    Cell Signaling Technology (CST) Antibodies for NCF2  (p67phox)
    OriGene Antibodies for NCF2
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    Novus Biologicals NCF2 Antibodies
    Abcam antibodies for NCF2
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    Search ThermoFisher Antibodies for NCF2
    LSBio Antibodies in human, mouse, rat for NCF2

    NCF2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NCF2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NCF2
    Cloud-Clone Corp. CLIAs for NCF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR001452 SH3_domain
     IPR000270 OPR_PB1
     IPR001440 TPR_1
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry P19878

    ProtoNet protein and cluster: P19878

    2 Blocks protein domains:
    IPB000108 Neutrophil cytosol factor 2 signature
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: NCF2_HUMAN, P19878
    Domain: The OPR/PB1 domain mediates the association with NCF4/p40-PHOX
    Similarity: Belongs to the NCF2/NOXA1 family
    Similarity: Contains 1 OPR domain
    Similarity: Contains 2 SH3 domains
    Similarity: Contains 3 TPR repeats


    NCF2 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: NCF2_HUMAN, P19878
    Function: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase
    (necessary for superoxide production)

         Genatlas biochemistry entry for NCF2:
    neutrophil cytosolic factor 2 (component of NADPH oxidase system),p675-phox,oxygen dependent mechanism of
    phagocytosis

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11483497
    GO:0008022protein C-terminus binding IPI9365277
    GO:0009055electron carrier activity TAS1692159
    GO:0016175superoxide-generating NADPH oxidase activity ----
    GO:0048365Rac GTPase binding IEA--
         
    NCF2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NCF2:
     Decreased viability of wild-ty  Increased S DNA content, incre 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCF2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NCF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NCF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCF2

    miRNA
    Products:
        
    miRTarBase miRNAs that target NCF2:
    hsa-mir-124-3p (MIRT022884)

    Block miRNA regulation of human, mouse, rat NCF2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NCF2:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidNCF2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NCF2
    Predesigned siRNA for gene silencing in human, mouse, rat NCF2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NCF2

    Clone
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    OriGene clones in human, mouse for NCF2 (see all 19)
    OriGene ORF clones in mouse, rat for NCF2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NCF2 (NM_000433)
    Sino Biological Human cDNA Clone for NCF2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCF2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCF2


    (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
    NCF2_HUMAN, P19878: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    lysosome4
    nucleus4
    plasma membrane4
    vacuole4

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016020membrane ----

    NCF2 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 NCF2 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    2CDK-mediated phosphorylation and removal of Cdc6
    Antigen processing-Cross presentation0.80
    Cross-presentation of particulate exogenous antigens (phagosomes)0.00
    3Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    4ERK Signaling
    Rho Family GTPases0.61
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NCF2
        Rac1 Pathway
    Antioxidant Action of Vitamin-C
    Rho Family GTPases
    Transendothelial Migration of Leukocytes

    2 Cell Signaling Technology (CST) Pathways for NCF2
        Neuroscience
    Lymphocyte Signaling

    4 GeneGo (Thomson Reuters) Pathways for NCF2
        G-protein signaling Rac2 regulation pathway
    Inhibitory action of Lipoxins on Superoxide production in neutrophils
    G-protein signaling RAC1 in cellular process
    Immune response CCR3 signaling in eosinophils

    2 BioSystems Pathways for NCF2
        BDNF signaling pathway
    RAC1 signaling pathway


    2 Reactome Pathways for NCF2
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)


    4 Kegg Pathways  (Kegg details for NCF2):
        Phagosome
    Osteoclast differentiation
    Leukocyte transendothelial migration
    Leishmaniasis


    NCF2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCF2: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NCF2

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

    Selected Interacting proteins for NCF2 (P198781, 2, 3 ENSP000003565054) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF1P145981, 2, 3, ENSP000002894734EBI-489611,EBI-395044 MINT-7211525 MINT-7300396 MINT-7300380 MINT-7232210 MINT-25105 MINT-7135180 MINT-7211565 MINT-7211516 MINT-7135281 MINT-7211545 MINT-7211507 MINT-7135323 I2D: score=3 STRING: ENSP00000289473
    NCF4Q150801, 2, 3EBI-489611,EBI-1036870 MINT-7135281 MINT-7211583 MINT-16119 MINT-7135306 I2D: score=8 
    GNB1P628731, 2, 3, ENSP000003678724EBI-489611,EBI-357130 MINT-7135210 MINT-7135236 I2D: score=1 STRING: ENSP00000367872
    GNAI2P048991, 2, 3, ENSP000003129994EBI-489611,EBI-353997 MINT-7135264 MINT-7135250 MINT-7135281 MINT-7135162 I2D: score=1 STRING: ENSP00000312999
    DAXXQ9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0006801superoxide metabolic process TAS7938008
    GO:0006968cellular defense response TAS1692159
    GO:0007568aging IEA--

    NCF2 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 NCF2

    1 HMDB Compound for NCF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    Selected Novoseek inferred chemical compound relationships for NCF2 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 93.3 248 8439286 (5), 7744791 (5), 11007780 (4), 9064349 (4) (see all 99)
    superoxide 82.2 54 7982496 (2), 9425254 (2), 9642219 (2), 17060455 (2) (see all 44)
    ianbd 74.8 1 9851827 (1)
    diphenyleneiodonium 71.4 1 17625947 (1)
    apocynin 67.3 1 15363632 (1)
    oxygen 61.3 9 7896790 (2), 17969555 (1), 9343750 (1), 15777540 (1) (see all 9)
    phosphatidylinositol 3-phosphate 58.5 2 17803994 (1), 18029359 (1)
    gliotoxin 54.6 3 15618159 (2), 15155643 (1)
    hocl 50.9 1 12440767 (1)
    arachidonic acid 46.9 4 17848987 (1), 8386165 (1), 9461621 (1), 7744791 (1)



    NCF2 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 NCF2 gene (4 alternative transcripts): 
    NM_000433.3  NM_001127651.2  NM_001190789.1  NM_001190794.1  

    Unigene Cluster for NCF2:

    Neutrophil cytosolic factor 2
    Hs.587558  [show with all ESTs]
    Unigene Representative Sequence: AB209647
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367536(uc001gqk.4) ENST00000367535 ENST00000469280 ENST00000420553
    ENST00000419402 ENST00000413720(uc001gqj.4 uc010pod.2) ENST00000418089(uc010poe.2)


    miRNA
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    1 qRT-PCR Assays for microRNA that regulate NCF2:
    hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidNCF2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): NCF2 (NM_000433)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCF2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NCF2
      QuantiTect SYBR Green Assays in human, mouse, rat NCF2
      QuantiFast Probe-based Assays in human, mouse, rat NCF2

    Additional mRNA sequence: 

    AB209647.1 AF527950.1 AK296672.1 AK298713.1 AK312666.1 BC001606.1 BT007439.1 M32011.1 

    12 DOTS entries:

    DT.408797  DT.100763373  DT.121377202  DT.100793825  DT.75193679  DT.99942793  DT.100705854  DT.121377182 
    DT.121377199  DT.75101882  DT.100800108  DT.121377176 

    Selected AceView cDNA sequences (see all 100):

    BX431717 CF142955 BX402391 AU121467 BQ029626 CA389911 CR593013 BX422147 
    BU617086 BP344359 BX359640 AF527950 BX395650 BQ029361 CF143761 AW467432 
    BX397119 BX399290 BC001606 BE269352 AW501595 CA308758 BI765644 BM701911 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NCF2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:        -     -     -     -     -                                                                                                                     
    SP2:                                                                                                                                                      
    SP3:                                                                          -     -                                                                     
    SP4:              -     -     -     -                                                                                                                     
    SP5:                          -     -                                                                                                                     


    ECgene alternative splicing isoforms for NCF2

    (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)
    About This Section

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    NCF2 expression in normal human tissues (normalized intensities)      NCF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGATGCCT
    NCF2 Expression
    About this image


    NCF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Thymus (Hematopoietic System)
             Thymus
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Bone (Muscoskeletal System)
             Bone Marrow
    NCF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.587558
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCF2: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NCF2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ncf21 , 5 neutrophil cytosolic factor 21, 5 84.06(n)1
    84.76(a)1
      1 (65.05 cM)5
    179701  NM_010877.41  NP_035007.11 
     1528078905 
    chicken
    (Gallus gallus)
    Aves NCF21 neutrophil cytosolic factor 2 69.08(n)
    64.9(a)
      424445  XM_422288.4  XP_422288.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    60(a)
    56(a)
    1 ↔ many
    1 ↔ many
    AAWZ02039852(2138-7726)
    GL343203.1(4063622-4101506)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ncf21 neutrophil cytosolic factor 2 60.25(n)
    55.95(a)
      619367  NM_001033947.1  NP_001029119.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ncf21 neutrophil cytosolic factor 2 54.92(n)
    47.75(a)
      562473  NM_001110462.1  NP_001103932.1 


    ENSEMBL Gene Tree for NCF2 (if available)
    TreeFam Gene Tree for NCF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCF2 gene
    NOXA12  
    1 SIMAP similar gene for NCF2 using alignment to 4 protein entries:     NCF2_HUMAN (see all proteins):
    SH3GL2

    NCF2 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 NCF2 (see all 804)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350125211,2,,4
    C,FGranulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)4 --190084243(-) GAAAAA/TCTACT 8 N I mis16Minor allele frequency- T:0.01NA NS EU 6045
    rs1191032741,2,,4
    CGranulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)4 pathogenic1190095618(-) CATTGC/TTTTCA 6 A V mis1 int10--------
    rs1191032751,2,,4
    CGranulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)4 pathogenic1190107934(-) CCAACA/GAGGGA 8 Q R mis10--------
    rs1378545101,2,,4
    CGranulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)4 untested1190111217(-) ACATTC/G/TGCTGC 12 R G C mis10--------
    rs133065751,2,,4
    C,F,Hpathogenic1190084316(-) GCTATC/TGGCCT 8 R W mis118Minor allele frequency- T:0.01MN NS EA NA EU 7481
    rs1378545131,2,,4
    Cuntested1190084521(-) AGCCCG/AGGCTC 8 /R /G mis11Minor allele frequency- A:0.00NA 4552
    rs1813235541,2
    --154760113(+) GTTTAC/TACTGA 4 -- ds50010--------
    rs1859650111,2
    --154760125(+) GATACA/TTACTT 4 -- ds50010--------
    rs1907865021,2
    --154760149(+) AGTTGC/GCTGCA 4 -- ds50010--------
    rs1831005481,2
    --154760185(+) CAGGTC/TTGTAG 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for NCF2 (183524697 - 183560056 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NCF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv825587CNV Loss20364138

    Human Gene Mutation Database (HGMD): NCF2
    Locus Specific Mutation Databases (LSDB): NCF2

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NCF2
    DNA2.0 Custom Variant and Variant Library Synthesis for NCF2

    (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: 608515   
    OMIM disorders: 233710  
    UniProtKB/Swiss-Prot: NCF2_HUMAN, P19878
  • Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: A
    disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested.
    Patients suffer from life-threatening bacterial/fungal infections. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for NCF2 (see all 40):    About MalaCards
    chronic granulomatous disease due to deficiency of ncf-2    chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii    vaginal cancer    elephantiasis
    chronic granulomatous disease, autosomal, due to deficiency of cyba    chronic granulomatous disease    vaginitis    aspergillosis
    primary ciliary dyskinesia    pleomorphic adenoma    ectodermal dysplasia    idiopathic pulmonary fibrosis
    burns    pulmonary fibrosis    leishmaniasis    bronchiolitis
    childhood leukemia    lung cancer susceptibility    non-hodgkin lymphoma    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for NCF2:
    Chronic granulomatous disease

    NCF2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for NCF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulomatous disease chronic 92 43 9070911 (2), 8781442 (2), 1918085 (2), 8147882 (2) (see all 34)
    genetic disorder 22.4 2 17101097 (1), 12440767 (1)
    aspergillosis 4.65 2 11499676 (1)
    necrosis 4.4 5 8145024 (2), 15513967 (2), 1568222 (1)
    immunodeficiency 2.52 1 18625437 (1)
    cancer 0.661 1 19431059 (1)
    atherosclerosis 0 1 20083677 (1)
    tumors 0 5 8145024 (2), 15513967 (2), 1568222 (1)
    alzheimers disease 0 1 10873554 (1)

    Genatlas disease: NCF2
    chronic granulomatous disease,autosomal rare form

    Genetic Association Database (GAD): NCF2
    Human Genome Epidemiology (HuGE) Navigator: NCF2 (22 documents)

    Export disorders for NCF2 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 NCF2 gene, integrated from 10 sources (see all 340):
    (articles sorted by number of sources associating them with NCF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases. (PubMed id 12716910)1, 2, 9 Takeya R....Sumimoto H. (J. Biol. Chem. 2003)
    2. Expression of a p67(phox) homolog in Caco-2 cells giving O(2)(-)- reconstituting ability to cytochrome b(558) together with recombinant p47(phox). (PubMed id 12207919)1, 2, 9 Yoshida L.S....Tsunawaki S. (Biochem. Biophys. Res. Commun. 2002)
    3. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. (PubMed id 10598813)1, 2, 9 Noack D.... Heyworth P.G. (Hum. Genet. 1999)
    4. Identification of a double mutation (D160V-K161E) (sic) in the p67phox gene of a chronic granulomatous disease patient. (PubMed id 9070911)1, 2, 9 Bonizzato A.... Dusi S. (Biochem. Biophys. Res. Commun. 1997)
    5. Structure of the TPR domain of p67phox in complex with Rac.GTP. (PubMed id 11090627)1, 2, 9 Lapouge K....Rittinger K. (Mol. Cell 2000)
    6. Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. (PubMed id 7903171)1, 2, 9 Kenney R.T.... Leto T.L. (Blood 1993)
    7. Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. (PubMed id 8286749)1, 2, 9 de Boer M.... Roos D. (Blood 1994)
    8. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. (PubMed id 18625437)1, 2, 9 Yu G....Lewis D.B. (Clin. Immunol. 2008)
    9. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (J Negat Results Biomed 2006)
    10. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. (PubMed id 10498624)1, 2, 9 Patino P.J.... Curnutte J.T. (Blood 1999)

    (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)
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    Entrez Gene: 4688 HGNC: 7661 AceView: NCF2 Ensembl:ENSG00000116701 euGenes: HUgn4688
    ECgene: NCF2 Kegg: 4688 H-InvDB: NCF2

    (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 NCF2 Pharmacogenomics, SNPs, Pathways
    NCF2basehttp://bioinf.uta.fi/NCF2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NCF2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NCF2 gene:
    Search GeneIP for patents involving NCF2

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



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