Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NCF2 Gene

Aliases for NCF2 Gene

  • Neutrophil Cytosolic Factor 2 2 3 5
  • NADPH Oxidase Activator 2 2 3 4
  • Neutrophil Cytosolic Factor 2 (65kD, Chronic Granulomatous Disease, Autosomal 2) 2 3
  • Neutrophil NADPH Oxidase Factor 2 3 4
  • 67 KDa Neutrophil Oxidase Factor 3 4
  • P67-PHOX 3 4
  • P67PHOX 3 4
  • NCF-2 3 4
  • NOXA2 3 4
  • Chronic Granulomatous Disease, Autosomal 2 3
  • Chronic Granulomatous Disease 2
  • Autosomal 2 2

External Ids for NCF2 Gene

Previous GeneCards Identifiers for NCF2 Gene

  • GC01M181050
  • GC01M178953
  • GC01M180044
  • GC01M180764
  • GC01M180256
  • GC01M181791
  • GC01M154762

Summaries for NCF2 Gene

Entrez Gene Summary for NCF2 Gene

  • This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

GeneCards Summary for NCF2 Gene

NCF2 (Neutrophil Cytosolic Factor 2) is a Protein Coding gene. Diseases associated with NCF2 include Chronic Granulomatous Disease Due To Deficiency Of Ncf-2 and Chronic Granulomatous Disease. Among its related pathways are p53 Pathway (RnD) and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include protein C-terminus binding and Rac GTPase binding. An important paralog of this gene is NOXA1.

UniProtKB/Swiss-Prot for NCF2 Gene

  • NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Wiki entry for NCF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF2 Gene

Genomics for NCF2 Gene

Regulatory Elements for NCF2 Gene

Enhancers for NCF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NCF2 on UCSC Golden Path with GeneCards custom track

Promoters for NCF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NCF2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NCF2 gene promoter:

Genomic Location for NCF2 Gene

Chromosome:
1
Start:
183,555,562 bp from pter
End:
183,590,921 bp from pter
Size:
35,360 bases
Orientation:
Minus strand

Genomic View for NCF2 Gene

Genes around NCF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF2 Gene

Proteins for NCF2 Gene

  • Protein details for NCF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19878-NCF2_HUMAN
    Recommended name:
    Neutrophil cytosol factor 2
    Protein Accession:
    P19878
    Secondary Accessions:
    • B2R6Q1
    • B4DKQ7
    • B4DQA7
    • E9PHJ2
    • E9PHX3
    • Q2PP06
    • Q8NFC7
    • Q9BV51

    Protein attributes for NCF2 Gene

    Size:
    526 amino acids
    Molecular mass:
    59762 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. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9).

    Three dimensional structures from OCA and Proteopedia for NCF2 Gene

    Alternative splice isoforms for NCF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF2 Gene

Proteomics data for NCF2 Gene at MOPED

Post-translational modifications for NCF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for NCF2 Gene

Domains & Families for NCF2 Gene

Gene Families for NCF2 Gene

Suggested Antigen Peptide Sequences for NCF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19878

UniProtKB/Swiss-Prot:

NCF2_HUMAN :
  • The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.
  • Belongs to the NCF2/NOXA1 family.
  • Contains 3 TPR repeats.
Domain:
  • The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.
  • Contains 1 PB1 domain.
  • Contains 2 SH3 domains.
Family:
  • Belongs to the NCF2/NOXA1 family.
Similarity:
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with NCF2: view

Function for NCF2 Gene

Molecular function for NCF2 Gene

GENATLAS Biochemistry:
neutrophil cytosolic factor 2 (component of NADPH oxidase system),p675-phox,oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot Function:
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Ontology (GO) - Molecular Function for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048365 Rac GTPase binding IEA --
genes like me logo Genes that share ontologies with NCF2: view
genes like me logo Genes that share phenotypes with NCF2: view

Human Phenotype Ontology for NCF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NCF2 Gene

miRTarBase miRNAs that target NCF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NCF2 Gene

Localization for NCF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCF2 Gene COMPARTMENTS Subcellular localization image for NCF2 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
lysosome 4
vacuole 4
cytoskeleton 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for NCF2 Gene

Pathways & Interactions for NCF2 Gene

genes like me logo Genes that share pathways with NCF2: view

Gene Ontology (GO) - Biological Process for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006801 superoxide metabolic process TAS 7938008
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 NCF2: view

No data available for SIGNOR curated interactions for NCF2 Gene

Drugs & Compounds for NCF2 Gene

(12) Drugs for NCF2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 125

(21) Additional Compounds for NCF2 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 NCF2: view

Transcripts for NCF2 Gene

Unigene Clusters for NCF2 Gene

Neutrophil cytosolic factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NCF2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - - - -
SP2:
SP3: - -
SP4: - - - -
SP5: - -
SP6: - - -

Relevant External Links for NCF2 Gene

GeneLoc Exon Structure for
NCF2
ECgene alternative splicing isoforms for
NCF2

Expression for NCF2 Gene

mRNA expression in normal human tissues for NCF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF2 Gene

This gene is overexpressed in Whole Blood (x42.1).

Protein differential expression in normal tissues from HIPED for NCF2 Gene

This gene is overexpressed in Lavage (20.0), Peripheral blood mononuclear cells (17.1), and Monocytes (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NCF2 Gene



SOURCE GeneReport for Unigene cluster for NCF2 Gene Hs.587558

genes like me logo Genes that share expression patterns with NCF2: view

Protein tissue co-expression partners for NCF2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NCF2 Gene

Orthologs for NCF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NCF2 35
  • 88.89 (n)
  • 89.08 (a)
NCF2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCF2 35
  • 88.09 (n)
  • 86.88 (a)
NCF2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf2 35
  • 84.06 (n)
  • 84.76 (a)
Ncf2 16
Ncf2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCF2 35
  • 99.3 (n)
  • 98.48 (a)
NCF2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ncf2 35
  • 78.14 (n)
  • 76.02 (a)
oppossum
(Monodelphis domestica)
Mammalia NCF2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF2 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCF2 35
  • 69.08 (n)
  • 64.9 (a)
NCF2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf2 35
  • 60.25 (n)
  • 55.95 (a)
zebrafish
(Danio rerio)
Actinopterygii ncf2 35
  • 54.92 (n)
  • 47.75 (a)
ncf2 36
  • 46 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToMany
Species with no ortholog for NCF2:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NCF2 Gene

ENSEMBL:
Gene Tree for NCF2 (if available)
TreeFam:
Gene Tree for NCF2 (if available)

Paralogs for NCF2 Gene

Paralogs for NCF2 Gene

(1) SIMAP similar genes for NCF2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NCF2: view

Variants for NCF2 Gene

Sequence variations from dbSNP and Humsavar for NCF2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs137854519 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) 183,586,919(-) ACGAG(A/G)GATGC nc-transcript-variant, reference, missense
rs13306575 - 183,563,302(-) GCTAT(A/C/G/T)GGCCT nc-transcript-variant, reference, missense
rs119103275 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) 183,586,922(-) CCAAC(A/G)AGGGA nc-transcript-variant, reference, missense
rs119103274 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) 183,574,605(-) CATTG(C/T)TTTCA intron-variant, nc-transcript-variant, reference, missense
rs2274064 - 183,573,252(+) ACAGC(C/T)TGCCC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NCF2 Gene

Variant ID Type Subtype PubMed ID
nsv825587 CNV Loss 20364138

Variation tolerance for NCF2 Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.43; 95.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCF2 Gene

Human Gene Mutation Database (HGMD)
NCF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF2 Gene

Disorders for NCF2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NCF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease due to deficiency of ncf-2
  • avellino corneal dystrophy
chronic granulomatous disease
  • bridges-good syndrome
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search NCF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NCF2_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: 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:10498624, ECO:0000269 PubMed:10598813, ECO:0000269 PubMed:11112388, ECO:0000269 PubMed:16937026, ECO:0000269 PubMed:18625437, ECO:0000269 PubMed:19624736, ECO:0000269 PubMed:20167518, ECO:0000269 PubMed:23910690, ECO:0000269 PubMed:8286749, ECO:0000269 PubMed:9070911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NCF2 Gene

chronic granulomatous disease,autosomal rare form

Relevant External Links for NCF2

Genetic Association Database (GAD)
NCF2
Human Genome Epidemiology (HuGE) Navigator
NCF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCF2
genes like me logo Genes that share disorders with NCF2: view

Publications for NCF2 Gene

  1. Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases. (PMID: 12716910) Takeya R. … Sumimoto H. (J. Biol. Chem. 2003) 3 4 23 67
  2. Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). (PMID: 19953534) Gentsch M. … Roesler J. (Hum. Mutat. 2010) 3 23
  3. Role for the first SH3 domain of p67phox in activation of superoxide-producing NADPH oxidases. (PMID: 19116138) Maehara Y. … Sumimoto H. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Phosphatidylinositol 3-phosphate-dependent and -independent functions of p40phox in activation of the neutrophil NADPH oxidase. (PMID: 18029359) Bissonnette S.A. … Yaffe M.B. (J. Biol. Chem. 2008) 3 23
  5. The Rac effector p67phox regulates phagocyte NADPH oxidase by stimulating Vav1 guanine nucleotide exchange activity. (PMID: 17060455) Ming W. … Dinauer M.C. (Mol. Cell. Biol. 2007) 3 23

Products for NCF2 Gene

Sources for NCF2 Gene

Content