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

    Gene ID: 4688, updated on 19-Jul-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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