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NCF4 Gene

protein-coding   GIFtS: 66
GCID: GC22P037257

Neutrophil Cytosolic Factor 4, 40kDa

(Previous name: neutrophil cytosolic factor 4 (40kD))
  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
Neutrophil Cytosolic Factor 4, 40kDa1 2     P40PHOX2 5
Neutrophil NADPH Oxidase Factor 41 2 3     Neutrophil Cytosolic Factor 4 (40kD)1
NCF-42 3     NCF2
SH3PXD42 3     Neutrophil Cytosol Factor 42
p40-phox2 3     p40phox3
SH3 And PX Domain-Containing Protein 42 3     

External Ids:    HGNC: 76621   Entrez Gene: 46892   Ensembl: ENSG000001003657   OMIM: 6014885   UniProtKB: Q150803   

Export aliases for NCF4 gene to outside databases

Previous GC identifers: GC22P033871 GC22P035500 GC22P035581 GC22P020219


(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 NCF4 Gene:
The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte
NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially
expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox)
to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G
protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome
b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind
phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The
phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced
transcript variants encoding distinct isoforms have been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for NCF4 Gene:
NCF4 (neutrophil cytosolic factor 4, 40kDa) is a protein-coding gene. Diseases associated with NCF4 include ornithosis, and chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii. GO annotations related to this gene include protein dimerization activity and phosphatidylinositol binding.

UniProtKB/Swiss-Prot: NCF4_HUMAN, Q15080
Function: Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in
which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may
be important for the assembly and/or activation of the NADPH-oxidase complex

Gene Wiki entry for NCF4 (Neutrophil cytosolic factor 4) 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_000022.11  NC_018933.2  NT_011520.13  NT_187631.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the NCF4 gene promoter:
         Egr-1   NRSF form 1   Lmo2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNCF4 promoter sequence
   Search Chromatin IP Primers for NCF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCF4


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

NCF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCF4 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P037257:  view genomic region     (about GC identifiers)

Start:
37,257,030 bp from pter      End:
37,274,059 bp from pter
Size:
17,030 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NCF4_HUMAN, Q15080 (See protein sequence)
Recommended Name: Neutrophil cytosol factor 4  
Size: 339 amino acids; 39032 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. NCF4 interacts primarily with NCF2 to form a complex with
NCF1
6 PDB 3D structures from and Proteopedia for NCF4:
1H6H (3D)        1OEY (3D)        1W6X (3D)        1W70 (3D)        1Z9Q (3D)        2DYB (3D)    
Secondary accessions: A8K4F9 O60808 Q86U56 Q9BU98 Q9NP45
Alternative splicing: 3 isoforms:  Q15080-1   Q15080-2   Q15080-3   

Explore the universe of human proteins at neXtProt for NCF4: NX_Q15080

Explore proteomics data for NCF4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NCF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000622.2  NP_038202.2  

    ENSEMBL proteins: 
     ENSP00000414958   ENSP00000248899   ENSP00000380334   ENSP00000408619  
    Reactome Protein details: Q15080

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001683 Phox
     IPR001452 SH3_domain
     IPR000270 OPR_PB1
     IPR000919 NCF_P40

    Graphical View of Domain Structure for InterPro Entry Q15080

    ProtoNet protein and cluster: Q15080

    4 Blocks protein domains:
    IPB000270 Octicosapeptide/Phox/Bem1p
    IPB000919 Neutrophil cytosol factor P40 signature
    IPB001452 SH3 domain signature
    IPB001683 Phox-like


    UniProtKB/Swiss-Prot: NCF4_HUMAN, Q15080
    Domain: The OPR/PB1 domain mediates the association with NCF2/p67-PHOX
    Domain: The PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate
    Similarity: Contains 1 OPR domain
    Similarity: Contains 1 PX (phox homology) domain
    Similarity: Contains 1 SH3 domain


    NCF4 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: NCF4_HUMAN, Q15080
    Function: Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in
    which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may
    be important for the assembly and/or activation of the NADPH-oxidase complex

         Genatlas biochemistry entry for NCF4:
    neutrophil cytosolic factor 4 (component of NADPH oxidase system),p40-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:0016176superoxide-generating NADPH oxidase activator activity IMP8280052
    GO:0032266phosphatidylinositol-3-phosphate binding IDA11684018
    GO:0035091phosphatidylinositol binding ----
    GO:0046983protein dimerization activity TAS8280052
         
    NCF4 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ncf4):
     hematopoietic system  immune system  mortality/aging 

    NCF4 for phenotypes           About GeneDecksing

    Animal Models:
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    (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
    NCF4_HUMAN, Q15080: Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein; Cytoplasmic side.
    Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    lysosome4
    vacuole4
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0010008endosome membrane IDA11684018
    GO:0016020membrane IDA8280052
    GO:0032010phagolysosome TAS--

    NCF4 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 NCF4 About   (see all 12)  
    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
    3PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    4Inhibitory action of Lipoxins on Superoxide production in neutrophils
    Inhibitory action of Lipoxins on Superoxide production in neutrophils0.48
    5Integrin Pathway
    Transendothelial Migration of Leukocytes0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NCF4
        Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for NCF4
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for NCF4
        Inhibitory action of Lipoxins on Superoxide production in neutrophils


    2 Reactome Pathways for NCF4
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)

    1 PharmGKB Pathway for NCF4
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    4 Kegg Pathways  (Kegg details for NCF4):
        Phagosome
    Osteoclast differentiation
    Leukocyte transendothelial migration
    Leishmaniasis


    NCF4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NCF4
    Interactions:

        GeneGlobe Interaction Network for NCF4

    Selected Interacting proteins for NCF4 (Q150801, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF2P198781, 2, 3EBI-1036870,EBI-489611 MINT-7135281 MINT-7211583 MINT-16119 MINT-7135306 I2D: score=8 
    NCF1P145981, 2, 3EBI-1036870,EBI-395044 MINT-7135281 MINT-7300360 MINT-7300344 I2D: score=3 
    CYBAP134982, 3MINT-6175915 I2D: score=3 
    MSNP260383I2D: score=3 
    TXNP105993I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    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:0006955immune response TAS8280052
    GO:0007154cell communication ----
    GO:0042590antigen processing and presentation of exogenous peptide antigen via MHC class I TAS--

    NCF4 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 NCF4

    1 HMDB Compound for NCF4    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 NCF4 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 88 66 9804763 (5), 9064349 (3), 9370364 (3), 10861218 (3) (see all 47)
    phosphatidylinositol 3-phosphate 81.6 16 18029359 (2), 11433300 (2), 18711001 (2), 17290225 (2) (see all 7)
    superoxide 68.2 14 18711001 (4), 9804763 (2), 17698849 (2), 9370364 (2) (see all 8)
    oxygen 44.6 2 8670049 (1), 14688330 (1), 17397983 (1)
    proline 40.8 5 8679714 (2), 15657040 (1), 11258927 (1)
    phosphoinositide 35 2 11433300 (1), 18711001 (1)
    fmlp 25 2 8670049 (2)
    phosphatidylinositol 15.2 1 18029359 (1)
    phosphatidylserine 15.1 1 12556460 (1)
    serine 14.8 7 11573965 (2), 15035643 (1), 9804763 (1)

    1 PharmGKB related drug/compound annotation for NCF4 gene    About this table
    Drug/compound PharmGKB Annotation
    doxorubicinCA  



    NCF4 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,
    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 NCF4 gene (2 alternative transcripts): 
    NM_000631.4  NM_013416.3  

    Unigene Cluster for NCF4:

    Neutrophil cytosolic factor 4, 40kDa
    Hs.474781  [show with all ESTs]
    Unigene Representative Sequence: AK056804
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447071 ENST00000248899(uc003apy.4) ENST00000397147(uc003apz.4)
    ENST00000415063
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    Additional mRNA sequence: 

    AB025219.1 AB025220.1 AK056804.1 AK223324.1 AK290924.1 BC002798.1 BT007346.1 CR456528.1 
    CR542078.1 X77094.1 

    6 DOTS entries:

    DT.113141  DT.40119985  DT.100769785  DT.91744397  DT.95350392  DT.120645867 

    Selected AceView cDNA sequences (see all 145):

    BX443144 CA748910 BE856411 CR616659 AB025219 BM707869 CA436226 BQ005503 
    BI832805 AI160716 AK056804 CR595418 AB025220 BQ073024 BM457144 AA948430 
    CR595164 BI755764 CA308004 AI359383 BI837038 AI088359 BU732957 CD369152 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NCF4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:                                                                  
    SP3:              -                                                   


    ECgene alternative splicing isoforms for NCF4

    (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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    NCF4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGACGGT
    NCF4 Expression
    About this image


    NCF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    NCF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCF4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474781

    UniProtKB/Swiss-Prot: NCF4_HUMAN, Q15080
    Tissue specificity: Expression is restricted to hematopoietic cells

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    In Situ
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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 NCF4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ncf41 , 5 neutrophil cytosolic factor 41, 5 84.07(n)1
    86.73(a)1
      15 (37.10 cM)5
    179721  NM_008677.21  NP_032703.21 
     782448015 
    chicken
    (Gallus gallus)
    Aves NCF41 neutrophil cytosolic factor 4, 40kDa 68.93(n)
    67.85(a)
      418052  NM_001039272.1  NP_001034361.1 
    lizard
    (Anolis carolinensis)
    Reptilia NCF46
    neutrophil cytosolic factor 4, 40kDa
    54(a)
    1 ↔ 1
    5(22600166-22615630)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ncf41 neutrophil cytosolic factor 4, 40kDa 57.88(n)
    54.19(a)
      595084  NM_001030521.1  NP_001025692.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.123332 Danio rerio neutrophil cytosolic factor 4 mRNA, complete cds less 79.42(n)    AY391409.1 


    ENSEMBL Gene Tree for NCF4 (if available)
    TreeFam Gene Tree for NCF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCF4 gene
    3 SIMAP similar genes for NCF4 using alignment to 4 protein entries:     NCF4_HUMAN (see all proteins):
    SH3GL2    ARHGEF7    SH3GL1

    NCF4 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 NCF4 (see all 575)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659494
    Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3)4--see VAR_0659492 R Q mis40--------
    rs1837286061,2
    --21172378(+) TCTTTC/TACAGC 2 -- us2k10--------
    rs1404736881,2
    --21172387(+) GCTCAC/TGATTT 2 -- us2k10--------
    rs349058131,2
    C,F--21172510(+) GGGGCC/TTTACA 2 -- us2k12Minor allele frequency- T:0.01NS 92
    rs96073871,2
    C,F,A--21172555(+) ACACAC/TGTCCC 2 -- us2k112Minor allele frequency- T:0.39NS NA WA EA 466
    rs72891101,2
    C,F--21172560(+) CGTCCC/TTTGTT 2 -- us2k13Minor allele frequency- T:0.02NS NA 96
    rs355607671,2
    C,F--21172580(+) GACTGT/CGAGAG 2 -- us2k14Minor allele frequency- C:0.24NS CSA WA 214
    rs358891511,2
    C,F--21172704(+) GGACCT/CGTGGC 2 -- us2k14Minor allele frequency- C:0.03NS NA WA 214
    rs48202581,2
    C,F,A,H--21172866(+) GTTTTT/CTTTAG 2 -- us2k122Minor allele frequency- C:0.21NS EA NA CSA WA 2606
    rs1423525391,2
    --21172949(+) TGTGTA/GGCTGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NCF4 (37257030 - 37274059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NCF4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724204CNV Deletion23290073
    esv2724203CNV Deletion23290073
    esv2724205CNV Deletion23290073
    nsv3619CNV Insertion18451855
    nsv459881CNV Loss19166990
    nsv915009CNV Gain21882294
    dgv1405e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NCF4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NCF4
    DNA2.0 Custom Variant and Variant Library Synthesis for NCF4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601488   
    OMIM disorders: 613960  
    UniProtKB/Swiss-Prot: NCF4_HUMAN, Q15080
  • Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]: 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 NCF4 (see all 25):    
    About MalaCards
    ornithosis    chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii    chronic granulomatous disease    chronic granulomatous disease, autosomal, due to deficiency of cyba
    common variable immune deficiency    crohn's disease    childhood leukemia    hodgkin's lymphoma
    non-hodgkin lymphoma    leishmaniasis    atopic dermatitis    meningioma
    dermatitis    tonsillitis    tuberculosis    hypertension
    inflammatory bowel disease    arthritis    rheumatoid arthritis    multiple myeloma

    1 disease from the University of Copenhagen DISEASES database for NCF4:
    Chronic granulomatous disease

    NCF4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NCF4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulomatous disease chronic 84.1 4 9064349 (1), 8670049 (1), 11433300 (1), 8147882 (1)

    Genetic Association Database (GAD): NCF4
    Human Genome Epidemiology (HuGE) Navigator: NCF4 (18 documents)

    Export disorders for NCF4 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 NCF4 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with NCF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex. (PubMed id 8839867)1, 2, 3, 9 Zhan S.... Chanock S.J. (Blood 1996)
    2. Identification of a splice variant mRNA of p40phox, an NADPH oxidase component of phagocytes. (PubMed id 10437784)1, 2, 9 Hasebe T.... Nagaoka I. (FEBS Lett. 1999)
    3. p40(phox) is phosphorylated on threonine 154 and serine 315 during activation of the phagocyte NADPH oxidase. Implication of a protein kinase c-type kinase in the phosphorylation process. (PubMed id 9804763)1, 2, 9 Bouin A.-P.... Fuchs A. (J. Biol. Chem. 1998)
    4. Effects of p47phox C terminus phosphorylations on binding interactions with p40phox and p67phox. Structural and functional comparison of p40phox and p67phox SH3 domains. (PubMed id 15657040)1, 2, 9 Massenet C.... Fieschi F. (J. Biol. Chem. 2005)
    5. p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. (PubMed id 8280052)1, 2, 9 Wientjes F.B.... Segal A.W. (Biochem. J. 1993)
    6. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (J Negat Results Biomed 2006)
    7. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. (PubMed id 22197932)1, 4 Paternoster L....Weidinger S. (Nat. Genet. 2012)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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: 4689 HGNC: 7662 AceView: NCF4 Ensembl:ENSG00000100365 euGenes: HUgn4689
    ECgene: NCF4 Kegg: 4689 H-InvDB: NCF4

    (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 NCF4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NCF4 gene:
    Search GeneIP for patents involving NCF4

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



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