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

Gene ID: 4688, updated on 7-Jan-2016
Official Symbol
NCF2provided by HGNC
Official Full Name
neutrophil cytosolic factor 2provided by HGNC
Primary source
HGNC:HGNC:7661
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]
Orthologs
See NCF2 in Epigenomics, MapViewer
Location:
1q25
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105371647 Neighboring gene actin related protein 2/3 complex subunit 5 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?

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 ...
  • 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...
  • 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...
  • 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 response to bacteria, organism-specific biosystem (from REACTOME)
    ROS, RNS production in response to bacteria, organism-specific biosystemWhen engulfed by macrophages, microorganisms are exposed to a number of host defense mechanisms within the resulting phagosome and through its subsequent fusion with lysosomes. These include the prod...
  • 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 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 
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
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
    Related
    ENSP00000356505, OTTHUMP00000033270, ENST00000367535, 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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]
  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
    Related
    ENSP00000356506, OTTHUMP00000033269, ENST00000367536, 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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]
  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 (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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]
  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 (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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011509580.1XP_011507882.1  

    See identical proteins and their annotated locations for XP_011507882.1

    UniProtKB/Swiss-Prot
    P19878
    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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]
  2. XM_011509581.1XP_011507883.1  

    See identical proteins and their annotated locations for XP_011507883.1

    UniProtKB/Swiss-Prot
    P19878
    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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]
  3. XM_005245207.1XP_005245264.1  

    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
    pfam00515
    Location:7198
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:4198
    TPR_11; TPR repeat
    sd00006
    Location:632
    TPR; TPR repeat [structural motif]

RNA

  1. XR_921801.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

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