Property Summary

NCBI Gene PubMed Count 74
PubMed Score 247.46
PubTator Score 127.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
cutaneous lupus erythematosus 1.900 1.1e-03
osteosarcoma -4.357 7.5e-06
glioblastoma 1.700 4.0e-03
periodontitis 1.400 3.7e-23
adrenocortical carcinoma -1.108 7.0e-03
tuberculosis 1.100 1.0e-03
non-small cell lung cancer -1.614 2.2e-16
lung cancer -1.600 3.0e-05
active Crohn's disease 1.714 7.7e-04
interstitial cystitis 1.600 2.3e-03
adult high grade glioma 1.200 1.8e-03
pilocytic astrocytoma 1.100 7.2e-07
invasive ductal carcinoma 1.001 9.2e-04
lung carcinoma -2.200 2.0e-27
acute myeloid leukemia 1.200 2.4e-02
ulcerative colitis 1.800 3.7e-04

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (39)

PMID Text
26289093 NCF4 polymorphism was associated with Crohn's disease, but not ulcerative colitis in Caucasian--{REVIEW}
24378533 NCF4 may induce ex- pression of NADPH oxidase enzymes, such as p67phox, p47phox, p22phox and NOX2, which lead to increased ROS levels.
23982929 Germline variation in NCF4, an innate immunity gene, is associated with an increased risk of colorectal cancer.
23576480 The contribution of the functionally relevant NADPH polymorphisms rs1883112 and rs4673 to anthracycline-related heart lesions provides a plausible explanation for their modulation of cardiotoxicity.
22984083 Constitutive and inducible intracellular production of reactive oxygen species (ROS) is higher in B cells expressing functional p40phox, supporting a direct role for p40phox in regulating B cell intracellular ROS generation.
22158027 Younger age at diagnosis, complicated disease behavior, and ileal disease location are risk factors for perianal CD. First report of an association of the NCF4 gene with perianal disease.
21956105 cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fcgamma receptor (FcgammaR)-mediated phagocytosis
21518975 Results demonstrate that PBEF can prime for PMN respiratory burst activity by promoting p40 and p47 translocation to the membrane.
21472827 Genome-wide association studies-reported associations between the NELL1, NCF4, and FAM92B genes and susceptibility to Crohn's disease could not be replicated in Canadian children and young adults.
21122541 no association between SNP rs4821544 and the presence of granulomas in Crohn's disease
20637895 cytosolic localisation depends on direct interaction with F-actin
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20167518 All mutations and some polymorphisms identified in the NCF4 gene in the autosomal forms of chronic granulomatous disease are listed. Review.
20056178 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19692703 p40(phox) binding to PtdIns(3)P is essential for phagocytosis-induced oxidant production in human neutrophils and its absence can be associated with disease.
19505917 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19423521 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19372141 Observational study of gene-disease association. (HuGE Navigator)
19262523 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18807499 regulates activity of NADPH oxidase which generates superoxide production in neutrophils. (review)
18755982 Class III PI3K Vps34 is responsible for the synthesis of PtdIns(3)P on phagosomes containing either S aureus or E coli. PtdIns(3)P binding to p40(phox) is important for CD18-dependent activation oxidase activation in response to S aureus and E coli
18711001 p40(phox) functions primarily to regulate Fc gamma receptor-induced NADPH oxidase activity rather than assembly, and stimulates superoxide production via a phosphatidylinositol-3-phosphate signal that increases after phagosome internalization.
18580884 This study has confirmed NCF4 and IRGM are risk factors for ileal Crohn's disease in New Zealand Caucasians.
18580884 Observational study of gene-disease association. (HuGE Navigator)
17897462 In Swedish men with rheumatoid arthritis there were several single nucleotide polymorphisms identified in NCF4.
17698849 analysis of the dual regulatory mechanism through the PX domain of p40(phox): its interaction with the actin cytoskeleton may stabilize NADPH oxidase in resting cells, and binding of PtdIns (3)P potentiates superoxide production upon agonist stimulation
16880255 This study identifies a role for p40(phox) and PI(3)P in coupling FcgammaR-mediated phagocytosis to activation of the NADPH oxidase.
16608528 Observational study of gene-disease association. (HuGE Navigator)
16102984 review of p40phox role in NADPH oxidase dynamics and possible non-NADPH oxidase processes in phagocytic and non-phagocytic cells
15035643 A model is proposed in which phosphorylation of p40PHOX on threonine 154 leads to an inhibitory conformation that shifts the balance toward an inhibitory role and blocks NADPH oxidase activation.
12556460 p40phox and p47phox PX domains interact with PI-containing membranes
12036891 Multiple PU.1 sites cooperate in the regulation of p40(phox) transcription during granulocytic differentiation of myeloid cells.
11903052 Involvement of protein kinase D in Fc gamma-receptor activation of the NADPH oxidase in neutrophils
11893732 p22(phox), gp91(phox), p47(phox), p67(phox), and p40(phox) existed as a functional complex in the cytoskeletal fraction.
11796733 detailed study of the protein-protein interactions that occur in the p40-p47-p67(phox) complex of the resting oxidase

AA Sequence

MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLE      1 - 70
ERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDS     71 - 140
EQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEG    141 - 210
TVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQR    211 - 280
EDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP               281 - 339
//

Text Mined References (75)

PMID Year Title
26289093 2015 Association between NCF4 rs4821544T/C polymorphism and inflammatory bowel disease risk in Caucasian: a meta-analysis.
24378533 2014 Activation of NADPH oxidase subunit NCF4 induces ROS-mediated EMT signaling in HeLa cells.
23982929 2014 Germline variation in NCF4, an innate immunity gene, is associated with an increased risk of colorectal cancer.
23576480 2013 Association of anthracycline-related cardiac histological lesions with NADPH oxidase functional polymorphisms.
22984083 2012 Cutting edge: NADPH oxidase modulates MHC class II antigen presentation by B cells.
22197932 2011 Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
22158027 2012 Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort.
21956105 2011 Cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fc? receptor (Fc?R)-mediated phagocytosis: mechanism for acquisition of p40(phox) phosphatidylinositol 3-phosphate (PI(3)P) binding.
21518975 2011 Pre-B cell colony-enhancing factor (PBEF/Nampt/visfatin) primes neutrophils for augmented respiratory burst activity through partial assembly of the NADPH oxidase.
21472827 2012 NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults.
21122541 2010 Granulomas in Crohn's disease: are newly discovered genetic variants involved?
20637895 2010 Subcellular localisation of the p40phox component of NADPH oxidase involves direct interactions between the Phox homology domain and F-actin.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
20056178 2010 Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19692703 2009 A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.
19505917 2009 Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19423521 2009 Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.
19372141 2009 Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women.
19262523 2009 rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.
18807499 2008 [Crystal structure of p40(phox) and regulation mechanism of superoxide generation].
18755982 2008 CD18-dependent activation of the neutrophil NADPH oxidase during phagocytosis of Escherichia coli or Staphylococcus aureus is regulated by class III but not class I or II PI3Ks.
18711001 2008 Fc gamma R-stimulated activation of the NADPH oxidase: phosphoinositide-binding protein p40phox regulates NADPH oxidase activity after enzyme assembly on the phagosome.
18580884 2008 Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.
17897462 2007 A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity.
17698849 2007 Characterization of a mutation in the Phox homology domain of the NADPH oxidase component p40phox identifies a mechanism for negative regulation of superoxide production.
17290225 2007 Full-length p40phox structure suggests a basis for regulation mechanism of its membrane binding.
16880255 2006 The phosphoinositide-binding protein p40phox activates the NADPH oxidase during FcgammaIIA receptor-induced phagocytosis.
16782902 2006 Activation state-dependent interaction between Galphai and p67phox.
16608528 2006 Genetic polymorphisms and susceptibility to lung disease.
16297854 2005 A region C-terminal to the proline-rich core of p47phox regulates activation of the phagocyte NADPH oxidase by interacting with the C-terminal SH3 domain of p67phox.
16102984 p40phox: the last NADPH oxidase subunit.
15657040 2005 Effects of p47phox C terminus phosphorylations on binding interactions with p40phox and p67phox. Structural and functional comparison of p40phox and p67phox SH3 domains.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15035643 2004 Phosphorylated p40PHOX as a negative regulator of NADPH oxidase.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12887891 2003 PB1 domain-mediated heterodimerization in NADPH oxidase and signaling complexes of atypical protein kinase C with Par6 and p62.
12556460 2003 Membrane binding mechanisms of the PX domains of NADPH oxidase p40phox and p47phox.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12456638 2002 The adaptor protein p40(phox) as a positive regulator of the superoxide-producing phagocyte oxidase.
12356722 2002 Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.
12065324 2002 Expression of a functionally active gp91phox-containing neutrophil-type NAD(P)H oxidase in smooth muscle cells from human resistance arteries: regulation by angiotensin II.
12036891 2002 Multiple PU.1 sites cooperate in the regulation of p40(phox) transcription during granulocytic differentiation of myeloid cells.
11917128 2002 Assembly of the neutrophil respiratory burst oxidase: a direct interaction between p67PHOX and cytochrome b558 II.
11903052 2002 Involvement of protein kinase D in Fc gamma-receptor activation of the NADPH oxidase in neutrophils.
11893732 2002 Intracellular localization and preassembly of the NADPH oxidase complex in cultured endothelial cells.
11796733 2002 Architecture of the p40-p47-p67phox complex in the resting state of the NADPH oxidase. A central role for p67phox.
11716484 2001 The NADPH oxidase components p47(phox) and p40(phox) bind to moesin through their PX domain.
11684018 2001 The crystal structure of the PX domain from p40(phox) bound to phosphatidylinositol 3-phosphate.
11483497 2001 Novel modular domain PB1 recognizes PC motif to mediate functional protein-protein interactions.
11433301 2001 PtdIns(3)P regulates the neutrophil oxidase complex by binding to the PX domain of p40(phox).
11433300 2001 The PX domains of p47phox and p40phox bind to lipid products of PI(3)K.
11258927 2001 Small angle neutron scattering and gel filtration analyses of neutrophil NADPH oxidase cytosolic factors highlight the role of the C-terminal end of p47phox in the association with p40phox.
10672014 2000 Complementation of NADPH oxidase in p67-phox-deficient CGD patients p67-phox/p40-phox interaction.
10591208 1999 The DNA sequence of human chromosome 22.
10437784 1999 Identification of a splice variant mRNA of p40phox, an NADPH oxidase component of phagocytes.
10397171 1999 Demonstration of the interaction of thioredoxin with p40phox, a phagocyte oxidase component, using a yeast two-hybrid system.
9914162 1999 The Ku70 autoantigen interacts with p40phox in B lymphocytes.
9804763 1998 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.
9370364 1997 The 40-kDa component of the phagocyte NADPH oxidase (p40phox) is phosphorylated during activation in differentiated HL60 cells.
9365277 1997 Cytosolic phox proteins interact with and regulate the assembly of coronin in neutrophils.
9083043 1997 p40(phox) down-regulates NADPH oxidase activity through interactions with its SH3 domain.
8982388 1996 Translocation of guinea pig p40-phox during activation of NADPH oxidase.
8839867 1996 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.
8670049 1996 Mechanisms of NADPH oxidase activation: translocation of p40phox, Rac1 and Rac2 from the cytosol to the membranes in human neutrophils lacking p47phox or p67phox.
8280052 1993 p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains.
8147882 1994 A novel cytosolic component, p40phox, of respiratory burst oxidase associates with p67phox and is absent in patients with chronic granulomatous disease who lack p67phox.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7938008 1994 Assembly of the phagocyte NADPH oxidase: binding of Src homology 3 domains to proline-rich targets.
243433 1977 The essence of operating room nursing. Paramedical personnel.