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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
  • 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
  • Neutrophil Cytosol Factor 2 3

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 Immune System and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. 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 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
GH01F183588 1 FANTOM5 ENCODE 52.9 +0.8 787 2.8 HDGF TBP PKNOX1 TBL1XR1 BMI1 ZBTB40 ZNF23 EGR1 ZNF207 ETV6 NCF2 ARPC5 SMG7-AS1 SMG7 LOC100526839
GH01F183602 1 FANTOM5 Ensembl ENCODE 49.5 -15.6 -15580 8.6 HDGF PKNOX1 ATF1 ZNF133 YBX1 ZNF121 ELK1 ZNF143 FOS SP5 NCF2 ARPC5 RGL1 APOBEC4 SMG7 GC01M183620
GH01F183592 1 FANTOM5 ENCODE 43.5 -2.3 -2324 1.9 HDGF TBP PKNOX1 BMI1 RELA EED ETV6 CREM CHD2 MCM3 NCF2 APOBEC4 ARPC5 SMG7-AS1 GC01M183620
GH01F183632 0.5 ENCODE 25.7 -43.8 -43798 4.6 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 NCF2 ARPC5 ENSG00000271387 GC01M183630
GH01F183613 0.2 Ensembl 22.5 -24.1 -24080 2.8 HDGF KLF1 RFX1 MCM3 RNF2 BHLHE40 KLF17 CEBPB BMI1 CEBPG NCF2 ARPC5 GC01M183620
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000549021 1821 3001 HDGF TBP PKNOX1 TBL1XR1 BMI1 ZBTB40 ZNF23 EGR1 ZNF207 ETV6

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

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:0005515 protein binding IPI 7938008
GO:0008022 protein C-terminus binding IPI 9365277
GO:0009055 electron carrier activity TAS 1692159
GO:0016175 superoxide-generating NADPH oxidase activity IEA --
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

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA --
GO:0005829 cytosol TAS --
GO:0032010 phagolysosome TAS --
genes like me logo Genes that share ontologies with NCF2: view

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:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006801 superoxide metabolic process TAS 7938008
GO:0006968 cellular defense response TAS 1692159
GO:0042554 superoxide anion generation TAS 7938008
GO:0045087 innate immune response TAS 7938008
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 129

(19) 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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NCF2 Gene



Protein tissue co-expression partners for NCF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NCF2 Gene:

NCF2

SOURCE GeneReport for Unigene cluster for NCF2 Gene:

Hs.587558
genes like me logo Genes that share expression patterns with NCF2: view

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
chimpanzee
(Pan troglodytes)
Mammalia NCF2 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia NCF2 34 35
  • 88.89 (n)
dog
(Canis familiaris)
Mammalia NCF2 34 35
  • 88.09 (n)
mouse
(Mus musculus)
Mammalia Ncf2 34 16 35
  • 84.06 (n)
rat
(Rattus norvegicus)
Mammalia Ncf2 34
  • 78.14 (n)
oppossum
(Monodelphis domestica)
Mammalia NCF2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCF2 34 35
  • 69.08 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf2 34
  • 60.25 (n)
zebrafish
(Danio rerio)
Actinopterygii ncf2 34 35
  • 54.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
OneToMany
Species where no ortholog for NCF2 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)
  • 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
rs119103274 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710], Pathogenic 183,574,605(-) CATTG(C/T)TTTCA intron-variant, reference, missense
rs119103275 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710], Pathogenic 183,586,922(-) CCAAC(A/G)AGGGA reference, missense
rs137854507 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710], untested 183,577,686(-) AAAGA(C/G)CTTAA reference, missense
rs137854508 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710], untested 183,573,189(-) CAAGG(C/T)GACGG intron-variant, reference, missense
rs137854509 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710], untested 183,577,642(-) GATAG(A/T)CTATA 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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCF2

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

Disorders for NCF2 Gene

MalaCards: The human disease database

(5) 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
chronic granulomatous disease, x-linked
  • chronic granulomatous disease
inhalation anthrax
  • pulmonary anthrax
- 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 22 64
  2. Expression of a p67(phox) homolog in Caco-2 cells giving O(2)(-)- reconstituting ability to cytochrome b(558) together with recombinant p47(phox). (PMID: 12207919) Yoshida L.S. … Tsunawaki S. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64
  3. Structure of the TPR domain of p67phox in complex with Rac.GTP. (PMID: 11090627) Lapouge K. … Rittinger K. (Mol. Cell 2000) 3 4 22 64
  4. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. (PMID: 10498624) Patino P.J. … Curnutte J.T. (Blood 1999) 3 4 22 64
  5. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. (PMID: 10598813) Noack D. … Heyworth P.G. (Hum. Genet. 1999) 3 4 22 64

Products for NCF2 Gene

Sources for NCF2 Gene

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