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NCF2 neutrophil cytosolic factor 2 [ Homo sapiens (human) ]

Gene ID: 4688, updated on 23-Oct-2014
Official Symbol
NCF2provided by HGNC
Official Full Name
neutrophil cytosolic factor 2provided by HGNC
Primary source
HGNC:HGNC:7661
Locus tag
RP1-127C7.5
See related
Ensembl:ENSG00000116701; HPRD:01991; MIM:608515; Vega:OTTHUMG00000035329
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCF-2; NOXA2; P67PHOX; P67-PHOX
Summary
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]
See NCF2 in Epigenomics, MapViewer
Location:
1q25
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (183555562..183590921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183524697..183560056, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SMG7 antisense RNA 1 Neighboring gene SMG7 nonsense mediated mRNA decay factor Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene actin related protein 2/3 complex, subunit 5, 16kDa Neighboring gene apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) Neighboring gene ral guanine nucleotide dissociation stimulator-like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
    Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
  • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
    BDNF signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystem (from REACTOME)
    Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystemDendritic cells (DCs) take up and process exogenous particulate or cell-associated antigens such as microbes or tumor cells for MHC-I cross-presentation. Particulate antigens have been reported to be...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystem (from REACTOME)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystemInfection by Mycobacterium tuberculosis (Mtb) is soon countered by the host's immune system, the organism is however almost never eradicated; ten per cent of infections will develop into "open tuberc...
  • Leishmaniasis, organism-specific biosystem (from KEGG)
    Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leishmaniasis, conserved biosystem (from KEGG)
    Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Phagosomal maturation (early endosomal stage), organism-specific biosystem (from REACTOME)
    Phagosomal maturation (early endosomal stage), organism-specific biosystemAlveolar macrophages normally develop their phagosome along the endolysosomal pathway. However, after having internalized Mtb, this development is arrested at an early stage and only includes acidifi...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RAC1 signaling pathway, organism-specific biosystem
    RAC1 signaling pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ93058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac GTPase binding IEA
Inferred from Electronic Annotation
more info
 
electron carrier activity TAS
Traceable Author Statement
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
cellular response to hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
interaction with host TAS
Traceable Author Statement
more info
 
phagosome maturation TAS
Traceable Author Statement
more info
 
positive regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
respiratory burst TAS
Traceable Author Statement
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
response to laminar fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IEA
Inferred from Electronic Annotation
more info
 
superoxide anion generation TAS
Traceable Author Statement
more info
PubMed 
superoxide metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
NADPH oxidase complex TAS
Traceable Author Statement
more info
PubMed 
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
phagolysosome TAS
Traceable Author Statement
more info
 
Preferred Names
neutrophil cytosol factor 2
Names
neutrophil cytosol factor 2
NADPH oxidase activator 2
67 kDa neutrophil oxidase factor
neutrophil NADPH oxidase factor 2
chronic granulomatous disease, autosomal 2
neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007267.1 

    Range
    4661..40020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_88

mRNA and Protein(s)

  1. NM_000433.3NP_000424.2  neutrophil cytosol factor 2 isoform 1

    See proteins identical to NP_000424.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK312666, BC001606, BP193903, BU617086, DC358267
    Consensus CDS
    CCDS1356.1
    UniProtKB/Swiss-Prot
    P19878
    Related
    ENSP00000356505, OTTHUMP00000033270, ENST00000367535, OTTHUMT00000085483
    Conserved Domains (5) summary
    cd06406
    Location:351429
    PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...
    cd11871
    Location:244297
    SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd12046
    Location:461513
    SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd00189
    Location:1198
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:4198
    TPR_11; TPR repeat
  2. NM_001127651.2NP_001121123.1  neutrophil cytosol factor 2 isoform 1

    See proteins identical to NP_001121123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AL137800, AW951155, DA817767, M32011
    Consensus CDS
    CCDS1356.1
    UniProtKB/Swiss-Prot
    P19878
    Related
    ENSP00000356506, OTTHUMP00000033269, ENST00000367536, OTTHUMT00000085482
    Conserved Domains (5) summary
    cd06406
    Location:351429
    PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...
    cd11871
    Location:244297
    SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd12046
    Location:461513
    SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd00189
    Location:1198
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:4198
    TPR_11; TPR repeat
  3. NM_001190789.1NP_001177718.1  neutrophil cytosol factor 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks in-frame two consecutive exons in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AK296672, BU617086, DC358267, M32011
    Consensus CDS
    CCDS53446.1
    UniProtKB/Swiss-Prot
    P19878
    Related
    ENSP00000407217, ENST00000418089
    Conserved Domains (5) summary
    cd06406
    Location:270348
    PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...
    cd11871
    Location:163216
    SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd12046
    Location:380432
    SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd00189
    Location:1198
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:4198
    TPR_11; TPR repeat
  4. NM_001190794.1NP_001177723.1  neutrophil cytosol factor 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AK298713, AL137800, AW951155, DC358267
    Consensus CDS
    CCDS53447.1
    UniProtKB/Swiss-Prot
    P19878
    Related
    ENSP00000399294, ENST00000413720
    Conserved Domains (5) summary
    cd06406
    Location:306384
    PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...
    cd11871
    Location:199252
    SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd12046
    Location:416468
    SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd00189
    Location:1198
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:4198
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    183555562..183590921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245207.1XP_005245264.1  

    Conserved Domains (5) summary
    cd06406
    Location:315393
    PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...
    cd11871
    Location:208261
    SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd12046
    Location:425477
    SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase
    cd00189
    Location:1198
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:4198
    TPR_11; TPR repeat

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    154760563..154795907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    184947718..184983070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)