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

Gene ID: 4688, updated on 17-Oct-2021

Summary

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
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]
Expression
Broad expression in bone marrow (RPKM 41.9), appendix (RPKM 36.2) and 15 other tissues See more
Orthologs
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Genomic context

See NCF2 in Genome Data Viewer
Location:
1q25.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183555562..183590914, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183524697..183560049, 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 Sharpr-MPRA regulatory region 11944 Neighboring gene NCF2-ARPC5 intergenic ENCODE-defined enhancer

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ93058

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
enables protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
enables superoxide-generating NAD(P)H oxidase activity IEA
Inferred from Electronic Annotation
more info
 
enables superoxide-generating NADPH oxidase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables superoxide-generating NADPH oxidase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular defense response TAS
Traceable Author Statement
more info
PubMed 
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in phagocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in respiratory burst TAS
Traceable Author Statement
more info
PubMed 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in superoxide anion generation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in superoxide anion generation TAS
Traceable Author Statement
more info
PubMed 
involved_in superoxide metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of NADPH oxidase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of NADPH oxidase complex TAS
Traceable Author Statement
more info
PubMed 
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagolysosome TAS
Traceable Author Statement
more info
 

General protein information

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)

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_000433.4NP_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
    Consensus CDS
    CCDS1356.1
    UniProtKB/Swiss-Prot
    P19878
    UniProtKB/TrEMBL
    A0A0S2Z457
    Related
    ENSP00000356505.4, ENST00000367535.8
    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_001127651.3NP_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, ENST00000367536.5
    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_001190789.2NP_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_001190794.2NP_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
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    183555562..183590914 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
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