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FLASH GENE
Symbol NCF2 contributors: mct/npt/pgu - updated : 29-05-2010
HGNC name neutrophil cytosolic factor 2
HGNC id 7661
Corresponding disease
NCF2 granulomatous disease, chronic, cytochrome b positive, type II
Location 1q25.3      Physical location : 183.524.697 - 183.560.056
Synonym name
  • phagocyte oxidase
  • neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)
  • NADPH oxidase activator 2
  • neutrophil NADPH oxidase factor 2
  • Synonym symbol(s) NOXA2, p67phox, P67-PHOX, FLJ93058
    EC.number 1.6.99.-
    DNA
    TYPE functioning gene
    STRUCTURE 35.35 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC127665 1q25.2 similar to zinc finger protein 135 (clone pHZ-17); zinc finger protein 61 LOC388718 1 similar to Protein translation factor SUI1 homolog (Sui1iso1) GLUL 1q31 glutamate-ammonia ligase (glutamine synthase) HE9 1q25.2 putative membrane protein HE9 LOC388719 1 hypothetical gene supported by AF508909 LOC127671 1q25.2 similar to CE9 protein RGSL2 1q25.2 regulator of G-protein signalling like 2 RGSL1  regulator of G-protein signalling like 1 RNASEL 1q25 ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RGS16 1q25-q31 regulator of G-protein signalling 16 RGS8 1q25-q31 regulator of G-protein signalling 8 NPL 1q25 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) DHX9 1q25 DEAH (Asp-Glu-Ala-His) box polypeptide 9 C1orf14 1q25-q31 chromosome 1 open reading frame 14 LOC391143 1 similar to natural cytotoxicity triggering receptor 1; lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46); lymphocyte antigen 94 (mouse) homolog (activating NK-receptor ; NK-p46); lymphocyte antigen 94 homolog, a LOC343326 1q25.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LAMC1 1q31 laminin, gamma 1 (formerly LAMB2) LAMC2 1q25-q31 laminin, gamma 2 NMNAT2 1q25-q31 nicotinamide nucleotide adenylyltransferase 2 C1orf16 1q25-q31 chromosome 1 open reading frame 16 NCF2 1q25 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ARPC5 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa RGL 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa C1orf17 1q25-q31 chromosome 1 open reading frame 17 C1orf19 1q25-q31 chromosome 1 open reading frame 19 LOC391144 1 similar to Rho-GTPase-activating protein 8 C1orf21 1q25-q31 chromosome 1 open reading frame 21 C1orf22 1q24-q25 chromosome 1 open reading frame 22 C1orf24 1q25-q31 chromosome 1 open reading frame 24 RNF2 1q25.1 ring finger protein 2 C1orf25 1q25.2 chromosome 1 open reading frame 25 C1orf26 1q25 chromosome 1 open reading frame 26
    RNA
    TRANSCRIPTS type messenger
    text presence of four NCF2 5'-UTR mRNA variants (designated as NCF2 exon 1, intron 1a, intron 1b and intron 1c)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2429 - 526 - 2007 17712795
    16 - 2256 - 526 - 2007 17712795
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestinelarge intestinecolon moderately
    Lymphoid/Immunelymph node   moderately
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • three tetratricopeptide repeats within its N-terminal Racl GTP binding region
  • a PB1 domain
  • two SH3 domains
  • acidic middle and C-terminal domains that are similar to a sequence motif found in the noncatalytic domain of src-related tyrosine kinases
  • HOMOLOGY
    interspecies ortholog to murine Ncf2
    ortholog to rattus Ncf2_predicted
    Homologene
    FAMILY
  • NCF2/NOXA1 family
  • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text translocated to the plasma membrane after activation
    basic FUNCTION
  • p67-phox, oxygen dependent mechanism of phagocytosis
  • reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
  • being a membrane bound cytochrome b558 required for activation of the latent NADPH oxidase
  • essential component of the multi-protein NADPH oxidase enzyme in phagocytic leukocytes, as well as in certain non-phagocytic cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation , electron transport
    PATHWAY
    metabolism other
    signaling
    superoxide metabolism
    a component
  • component of NADPH oxidase system cypb245
  • forming a cytosolic precomplex with NCF1 and NCF4
  • component of an intracellular complex made of CYBB, CYBA, NCF2, NCF4 in unstimulated endothelial cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with cytochrome b58 (CYBB)
  • SYTL1
  • RAC1
  • interacting with PLAGL2
  • NCF2 binding to VAV1 involves their respective PB1 and ZF domains
  • cell & other
    REGULATION
    activated by binding to CYBB activated by RAC1
    Other regulated through mechanisms that include modulation of transcription and translation
    regulated by PLAGL2, but overexpression of PLAGL2 alone was not sufficient to activate an NCF2 promoter-reporter plasmid, suggesting the requirement for other factors
    ASSOCIATED DISORDERS
    corresponding disease(s) NCF2
    related resource NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox
    Susceptibility to systemic lupus erythematosus (SLE)
    Variant & Polymorphism SNP
  • a single nonsynonymous coding mutation in exon 12, the effect of which is the substitution of histidine-389 with glutamine (H389Q) in the PB1 domain of the NCF2 protein, associated with SLE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS