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Aliases for NCF4 Gene

Aliases for NCF4 Gene

  • Neutrophil Cytosolic Factor 4 2 3 5
  • Neutrophil NADPH Oxidase Factor 4 2 3 4
  • SH3 And PX Domain-Containing Protein 4 3 4
  • Neutrophil Cytosolic Factor 4, 40kDa 2 3
  • 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) is a Protein Coding gene. Diseases associated with NCF4 include granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii and chronic granulomatous disease. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. 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

Promoters for NCF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NCF4 on UCSC Golden Path with GeneCards custom track

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

Genes around NCF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
genes like me logo Genes that share phenotypes with NCF4: view

Human Phenotype Ontology for NCF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NCF4 Gene

MGI Knock Outs for NCF4:

Animal Model Products

miRNA for NCF4 Gene

miRTarBase miRNAs that target NCF4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

Gene Ontology (GO) - Biological Process for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0048010 vascular endothelial growth factor receptor signaling pathway TAS --
GO:0090382 phagosome maturation 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 122
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1582

(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
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:

Inhibitory RNA Products

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

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
chimpanzee
(Pan troglodytes)
Mammalia NCF4 35
  • 91.77 (n)
  • 90.31 (a)
cow
(Bos Taurus)
Mammalia NCF4 36
  • 71 (a)
OneToOne
NCF4 35
  • 86.73 (n)
  • 89.68 (a)
dog
(Canis familiaris)
Mammalia NCF4 35
  • 89.09 (n)
  • 89.97 (a)
NCF4 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf4 16
Ncf4 36
  • 68 (a)
OneToOne
Ncf4 35
  • 84.07 (n)
  • 86.73 (a)
oppossum
(Monodelphis domestica)
Mammalia NCF4 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF4 36
  • 31 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ncf4 35
  • 84.46 (n)
  • 87.32 (a)
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)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.699 35
zebrafish
(Danio rerio)
Actinopterygii ncf4 36
  • 45 (a)
OneToOne
Dr.12333 35
ncf4 35
  • 61.38 (n)
  • 58.68 (a)
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
VAR_009314 -
rs35160112 - 36,870,530(+) CCCGC(A/G)CACCC reference, missense
VAR_065949 Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3)
rs1003500 -- 36,866,727(+) TGCGC(C/T)CACAT intron-variant
rs1003501 -- 36,866,900(+) gtgga(C/T)gtgcc 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: 43.6% 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

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

Disorder Aliases PubMed IDs
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii
  • chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii
chronic granulomatous disease
  • bridges-good syndrome
ornithosis
  • psittacosis
inhalation anthrax
  • pulmonary anthrax
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- elite association - COSMIC cancer census association via MalaCards
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 3 4 23 67
  2. Fc gamma R-stimulated activation of the NADPH oxidase: phosphoinositide-binding protein p40phox regulates NADPH oxidase activity after enzyme assembly on the phagosome. (PMID: 18711001) Tian W. … Dinauer M.C. (Blood 2008) 3 23
  3. 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. (PMID: 17897462) Olsson L.M. … Holmdahl R. (Arthritis Res. Ther. 2007) 3 23
  4. Characterization of a mutation in the Phox homology domain of the NADPH oxidase component p40phox identifies a mechanism for negative regulation of superoxide production. (PMID: 17698849) Chen J. … Ye R.D. (J. Biol. Chem. 2007) 3 23
  5. Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee P.L. … Wang L. (J Negat Results Biomed 2006) 3 23

Products for NCF4 Gene

Sources for NCF4 Gene

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