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

    Gene ID: 4688, updated on 5-Nov-2017
    Official Symbol
    NCF2provided by HGNC
    Official Full Name
    neutrophil cytosolic factor 2provided by HGNC
    Primary source
    HGNC:HGNC:7661
    See related
    Ensembl:ENSG00000116701 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]
    Orthologs
    Location:
    1q25.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105371646 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 uncharacterized LOC107985235 Neighboring gene actin related protein 2/3 complex subunit 5

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of neutrophil cytosolic factor 2 (NCF2) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    • 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 ...
    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (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...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • 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...
    • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
      Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • 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...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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...
    • 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
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate NADPH Oxidases, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate NADPH Oxidases, organism-specific biosystemNADPH oxidases (NOX) are membrane-associated enzymatic complexes that use NADPH as an electon donor to reduce oxygen and produce superoxide (O2-) that serves as a secondary messenger (Brown and Grien...
    • ROS, RNS production in phagocytes, organism-specific biosystem (from REACTOME)
      ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
    • 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 Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • 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 transfer 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 
    superoxide-generating NADPH oxidase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    superoxide-generating NADPH oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
     
    cell redox homeostasis TAS
    Traceable Author Statement
    more info
     
    cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
     
    electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory burst TAS
    Traceable Author Statement
    more info
    PubMed 
    superoxide anion generation TAS
    Traceable Author Statement
    more info
    PubMed 
    superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    NADPH oxidase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol 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
    67 kDa neutrophil oxidase factor
    NADPH oxidase activator 2
    chronic granulomatous disease, autosomal 2
    neutrophil NADPH oxidase factor 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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A0S2Z457
      Related
      ENSP00000356505.3, OTTHUMP00000033270, ENST00000367535.7, OTTHUMT00000085483
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:4198
      TPR_11; TPR repeat
    2. NM_001127651.2NP_001121123.1  neutrophil cytosol factor 2 isoform 1

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A0S2Z457
      Related
      ENSP00000356506.1, OTTHUMP00000033269, ENST00000367536.5, OTTHUMT00000085482
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      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
      ENSP00000407217.1, ENST00000418089.5
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      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
      ENSP00000399294.1, ENST00000413720.5
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:4198
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011509580.1XP_011507882.1  neutrophil cytosol factor 2 isoform X1

      See identical proteins and their annotated locations for XP_011507882.1

      UniProtKB/Swiss-Prot
      P19878
      UniProtKB/TrEMBL
      A0A0S2Z457
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:4198
      TPR_11; TPR repeat
    2. XM_011509581.1XP_011507883.1  neutrophil cytosol factor 2 isoform X1

      See identical proteins and their annotated locations for XP_011507883.1

      UniProtKB/Swiss-Prot
      P19878
      UniProtKB/TrEMBL
      A0A0S2Z457
      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:4198
      TPR_11; TPR repeat
    3. XM_005245207.1XP_005245264.1  neutrophil cytosol factor 2 isoform X2

      Conserved Domains (6) 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
      sd00006
      Location:632
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:7198
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:4198
      TPR_11; TPR repeat

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

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