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Aliases for NCF4 Gene

Aliases for NCF4 Gene

  • Neutrophil Cytosolic Factor 4, 40kDa 2 3
  • Neutrophil NADPH Oxidase Factor 4 2 3 4
  • SH3 And PX Domain-Containing Protein 4 3 4
  • P40-Phox 3 4
  • P40PHOX 3 4
  • SH3PXD4 3 4
  • NCF-4 3 4
  • Neutrophil Cytosolic Factor 4 (40kD) 2
  • NCF 3

External Ids for NCF4 Gene

Previous GeneCards Identifiers for NCF4 Gene

  • GC22P033871
  • GC22P035500
  • GC22P035581
  • GC22P037257
  • GC22P020219

Summaries for NCF4 Gene

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 chronic granulomatous disease and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include protein dimerization activity and phosphatidylinositol-3-phosphate binding.

UniProtKB/Swiss-Prot for NCF4 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF4 Gene

Genomics for NCF4 Gene

Regulatory Elements for NCF4 Gene

Genomic Location for NCF4 Gene

Chromosome:
22
Start:
36,860,988 bp from pter
End:
36,878,017 bp from pter
Size:
17,030 bases
Orientation:
Plus strand

Genomic View for NCF4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF4 Gene

Proteins for NCF4 Gene

  • Protein details for NCF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15080-NCF4_HUMAN
    Recommended name:
    Neutrophil cytosol factor 4
    Protein Accession:
    Q15080
    Secondary Accessions:
    • A8K4F9
    • O60808
    • Q86U56
    • Q9BU98
    • Q9NP45

    Protein attributes for NCF4 Gene

    Size:
    339 amino acids
    Molecular mass:
    39032 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for NCF4 Gene

    Alternative splice isoforms for NCF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF4 Gene

Proteomics data for NCF4 Gene at MOPED

Post-translational modifications for NCF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NCF4 (p40phox)

No data available for DME Specific Peptides for NCF4 Gene

Domains & Families for NCF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q15080

UniProtKB/Swiss-Prot:

NCF4_HUMAN :
  • The PB1 domain mediates the association with NCF2/p67-PHOX
Domain:
  • The PB1 domain mediates the association with NCF2/p67-PHOX
  • The PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate
  • Contains 1 PB1 domain.
  • Contains 1 PX (phox homology) domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with NCF4: view

No data available for Gene Families for NCF4 Gene

Function for NCF4 Gene

Molecular function for NCF4 Gene

GENATLAS Biochemistry:
neutrophil cytosolic factor 4 (component of NADPH oxidase system),p40-phox,oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9365277
GO:0016176 superoxide-generating NADPH oxidase activator activity IMP 8280052
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 11684018
GO:0035091 phosphatidylinositol binding --
GO:0046983 protein dimerization activity TAS 8280052
genes like me logo Genes that share ontologies with NCF4: view

Phenotypes for NCF4 Gene

MGI mutant phenotypes for NCF4:
inferred from 2 alleles
GenomeRNAi human phenotypes for NCF4:
genes like me logo Genes that share phenotypes with NCF4: view

miRNA for NCF4 Gene

miRTarBase miRNAs that target NCF4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NCF4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NCF4 Gene

Localization for NCF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF4 Gene

Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCF4 Gene COMPARTMENTS Subcellular localization image for NCF4 gene
Compartment Confidence
cytosol 5
endosome 5
plasma membrane 5
lysosome 4
vacuole 4
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IDA 11684018
GO:0016020 membrane IDA 8280052
GO:0032010 phagolysosome TAS --
genes like me logo Genes that share ontologies with NCF4: view

Pathways & Interactions for NCF4 Gene

genes like me logo Genes that share pathways with NCF4: view

Pathways by source for NCF4 Gene

Gene Ontology (GO) - Biological Process for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006955 immune response TAS 8280052
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with NCF4: view

No data available for SIGNOR curated interactions for NCF4 Gene

Drugs & Compounds for NCF4 Gene

(7) Drugs for NCF4 Gene - From: DrugBank, NovoSeek, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 113
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525
Phosphatidylserine Approved Nutra 0
arachidonic acid Experimental Nutra Potentiation, Activator 27
proline Nutra 20

(9) Additional Compounds for NCF4 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
FMLP
LIPID
Oligonucleotide
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with NCF4: view

Transcripts for NCF4 Gene

Unigene Clusters for NCF4 Gene

Neutrophil cytosolic factor 4, 40kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NCF4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCF4 Gene

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

Relevant External Links for NCF4 Gene

GeneLoc Exon Structure for
NCF4
ECgene alternative splicing isoforms for
NCF4

Expression for NCF4 Gene

mRNA expression in normal human tissues for NCF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF4 Gene

This gene is overexpressed in Whole Blood (x37.9).

Protein differential expression in normal tissues from HIPED for NCF4 Gene

This gene is overexpressed in Neutrophil (41.6) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NCF4 Gene



SOURCE GeneReport for Unigene cluster for NCF4 Gene Hs.474781

mRNA Expression by UniProt/SwissProt for NCF4 Gene

Q15080-NCF4_HUMAN
Tissue specificity: Expression is restricted to hematopoietic cells
genes like me logo Genes that share expression patterns with NCF4: view

Protein tissue co-expression partners for NCF4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for NCF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NCF4 35
  • 86.73 (n)
  • 89.68 (a)
NCF4 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCF4 35
  • 89.09 (n)
  • 89.97 (a)
NCF4 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf4 35
  • 84.07 (n)
  • 86.73 (a)
Ncf4 16
Ncf4 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCF4 35
  • 91.77 (n)
  • 90.31 (a)
rat
(Rattus norvegicus)
Mammalia Ncf4 35
  • 84.46 (n)
  • 87.32 (a)
oppossum
(Monodelphis domestica)
Mammalia NCF4 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF4 36
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCF4 35
  • 68.93 (n)
  • 67.85 (a)
NCF4 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCF4 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf4 35
  • 57.88 (n)
  • 54.19 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12333 35
ncf4 35
  • 61.38 (n)
  • 58.68 (a)
ncf4 36
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.699 35
Species with no ortholog for NCF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NCF4 Gene

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

Paralogs for NCF4 Gene

(3) SIMAP similar genes for NCF4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NCF4: view

No data available for Paralogs for NCF4 Gene

Variants for NCF4 Gene

Sequence variations from dbSNP and Humsavar for NCF4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs1858 -- 36,877,763(+) CTCTT(C/T)CCCTG reference, synonymous-codon, utr-variant-3-prime
rs2056912 -- 36,878,352(+) TGGAG(C/G)AGGAA downstream-variant-500B
rs4821553 -- 36,875,456(+) CTGGC(A/G)TATTG intron-variant
rs5756375 -- 36,873,591(+) AGAAC(A/T)TTCTT intron-variant
rs5995360 -- 36,877,138(+) TCTCC(G/T)TCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NCF4 Gene

Variant ID Type Subtype PubMed ID
dgv1405e1 CNV Complex 17122850
nsv3619 CNV Insertion 18451855
nsv459881 CNV Loss 19166990
nsv915009 CNV Gain 21882294
esv2724203 CNV Deletion 23290073
esv2724204 CNV Deletion 23290073
esv2724205 CNV Deletion 23290073

Variation tolerance for NCF4 Gene

Residual Variation Intolerance Score: 43.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCF4 Gene

HapMap Linkage Disequilibrium report
NCF4
Human Gene Mutation Database (HGMD)
NCF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF4 Gene

Disorders for NCF4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NCF4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease
  • quie syndrome
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii
  • granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive
ornithosis
  • psittacosis
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
inhalation anthrax
  • wool-sorters' disease
- elite association
Search NCF4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NCF4_HUMAN
  • 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. {ECO:0000269 PubMed:19692703}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NCF4

Genetic Association Database (GAD)
NCF4
Human Genome Epidemiology (HuGE) Navigator
NCF4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCF4
genes like me logo Genes that share disorders with NCF4: view

No data available for Genatlas for NCF4 Gene

Publications for NCF4 Gene

  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. (PMID: 8839867) Zhan S. … Chanock S.J. (Blood 1996) 2 23 67
  2. NADPH oxidase activator p67(phox) behaves in solution as a multidomain protein with semi-flexible linkers. (PMID: 19723583) Durand D. … Fieschi F. (J. Struct. Biol. 2010) 23 67
  3. The regulation of NADPH oxidase and its association with cell proliferation in human lens epithelial cells. (PMID: 19136702) Wang Y. … Lou M.F. (Invest. Ophthalmol. Vis. Sci. 2009) 23 67
  4. p47phox, the phagocyte NADPH oxidase/NOX2 organizer: structure, phosphorylation and implication in diseases. (PMID: 19372727) El-Benna J. … Braut-Boucher F. (Exp. Mol. Med. 2009) 23 67
  5. New p22-phox monoclonal antibodies: identification of a conformational probe for cytochrome b 558. (PMID: 20375611) Campion Y. … Paclet M.H. (J Innate Immun 2009) 23 67

Products for NCF4 Gene

Sources for NCF4 Gene

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