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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
  • Neutrophil Cytosol Factor 4 3
  • CGD3 3
  • 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 CDK-mediated phosphorylation and removal of Cdc6 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

Enhancers for NCF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NCF4 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for NCF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF4 Gene

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 IEA,IPI 9365277
GO:0016176 superoxide-generating NADPH oxidase activator activity IMP 8280052
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 11684018
GO:0046983 protein dimerization activity TAS 8280052
genes like me logo Genes that share ontologies with NCF4: view
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

CRISPR Products

miRNA for NCF4 Gene

miRTarBase miRNAs that target NCF4

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NCF4

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 --
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

Gene Ontology (GO) - Biological Process for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006955 immune response TAS 8280052
GO:0043085 positive regulation of catalytic activity IEA --
GO:0045454 cell redox homeostasis TAS --
GO:0048010 vascular endothelial growth factor receptor signaling pathway 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

(8) Drugs for NCF4 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 127
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1676

(8) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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



Protein tissue co-expression partners for NCF4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NCF4 Gene:

NCF4

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

Primer 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 34
  • 86.73 (n)
  • 89.68 (a)
NCF4 35
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCF4 34
  • 89.09 (n)
  • 89.97 (a)
NCF4 35
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf4 34
  • 84.07 (n)
  • 86.73 (a)
Ncf4 16
Ncf4 35
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCF4 34
  • 91.77 (n)
  • 90.31 (a)
rat
(Rattus norvegicus)
Mammalia Ncf4 34
  • 84.46 (n)
  • 87.32 (a)
oppossum
(Monodelphis domestica)
Mammalia NCF4 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF4 35
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCF4 34
  • 68.93 (n)
  • 67.85 (a)
NCF4 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCF4 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf4 34
  • 57.88 (n)
  • 54.19 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12333 34
ncf4 34
  • 61.38 (n)
  • 58.68 (a)
ncf4 35
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.699 34
Species where no ortholog for NCF4 was found in the sources mined by GeneCards:
  • 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
rs387906808 Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) 36,867,434(+) GATGC(A/C/G/T)GATAC reference, missense
rs729749 -- 36,867,804(+) TGTCC(C/T)ATGGG intron-variant
rs738148 -- 36,874,460(+) AGTTT(A/G)GCAGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2724203 CNV deletion 23290073
esv2724204 CNV deletion 23290073
esv2724205 CNV deletion 23290073
esv2758837 CNV gain+loss 17122850
esv3444959 CNV duplication 20981092
esv3647697 CNV gain 21293372
nsv3619 CNV insertion 18451855
nsv459881 CNV loss 19166990
nsv588983 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
NCF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCF4

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

Disorders for NCF4 Gene

MalaCards: The human disease database

(9) 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
renal tuberculosis
  • tuberculosis of kidney
ornithosis
  • psittacosis
n syndrome
  • nsx
- 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 22 65
  2. Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee P.L. … Wang L. (J Negat Results Biomed 2006) 3 22 46 65
  3. Effects of p47phox C terminus phosphorylations on binding interactions with p40phox and p67phox. Structural and functional comparison of p40phox and p67phox SH3 domains. (PMID: 15657040) Massenet C. … Fieschi F. (J. Biol. Chem. 2005) 3 4 22 65
  4. Identification of a splice variant mRNA of p40phox, an NADPH oxidase component of phagocytes. (PMID: 10437784) Hasebe T. … Nagaoka I. (FEBS Lett. 1999) 3 4 22 65
  5. 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. (PMID: 9804763) Bouin A.-P. … Fuchs A. (J. Biol. Chem. 1998) 3 4 22 65

Products for NCF4 Gene

Sources for NCF4 Gene

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