Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P19878

- NCF2_HUMAN

UniProt

P19878 - NCF2_HUMAN

Protein

Neutrophil cytosol factor 2

Gene

NCF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 169 (01 Oct 2014)
      Sequence version 2 (01 Feb 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).1 Publication

    GO - Molecular functioni

    1. electron carrier activity Source: UniProtKB
    2. protein binding Source: IntAct
    3. protein C-terminus binding Source: UniProtKB

    GO - Biological processi

    1. aging Source: Ensembl
    2. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
    3. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
    4. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    5. cellular defense response Source: ProtInc
    6. cellular response to hormone stimulus Source: Ensembl
    7. innate immune response Source: BHF-UCL
    8. interaction with host Source: Reactome
    9. phagosome maturation Source: Reactome
    10. positive regulation of blood pressure Source: Ensembl
    11. positive regulation of neuron apoptotic process Source: Ensembl
    12. respiratory burst Source: BHF-UCL
    13. response to activity Source: Ensembl
    14. response to drug Source: Ensembl
    15. response to glucose Source: Ensembl
    16. response to hyperoxia Source: Ensembl
    17. response to laminar fluid shear stress Source: Ensembl
    18. response to lipopolysaccharide Source: Ensembl
    19. response to progesterone Source: Ensembl
    20. superoxide anion generation Source: BHF-UCL
    21. superoxide metabolic process Source: BHF-UCL

    Enzyme and pathway databases

    ReactomeiREACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
    REACT_121256. Phagosomal maturation (early endosomal stage).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neutrophil cytosol factor 2
    Short name:
    NCF-2
    Alternative name(s):
    67 kDa neutrophil oxidase factor
    NADPH oxidase activator 2
    Neutrophil NADPH oxidase factor 2
    p67-phox
    Gene namesi
    Name:NCF2
    Synonyms:NOXA2, P67PHOX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7661. NCF2.

    Subcellular locationi

    GO - Cellular componenti

    1. acrosomal vesicle Source: Ensembl
    2. cytoplasm Source: HPA
    3. cytosol Source: Reactome
    4. NADPH oxidase complex Source: BHF-UCL
    5. nucleolus Source: HPA
    6. phagolysosome Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 213Missing in CGD2. 1 Publication
    VAR_017387
    Natural varianti42 – 421N → S in CGD2. 1 Publication
    Corresponds to variant rs137854514 [ dbSNP | Ensembl ].
    VAR_065002
    Natural varianti44 – 441G → C in CGD2. 1 Publication
    Corresponds to variant rs137854510 [ dbSNP | Ensembl ].
    VAR_065003
    Natural varianti44 – 441G → R in CGD2. 2 Publications
    Corresponds to variant rs137854510 [ dbSNP | Ensembl ].
    VAR_065004
    Natural varianti58 – 581Missing in CGD2. 1 Publication
    VAR_065005
    Natural varianti77 – 771R → Q in CGD2. 2 Publications
    Corresponds to variant rs119103275 [ dbSNP | Ensembl ].
    VAR_017388
    Natural varianti78 – 781G → E in CGD2. 1 Publication
    Corresponds to variant rs137854519 [ dbSNP | Ensembl ].
    VAR_008904
    Natural varianti93 – 931D → E in CGD2. 1 Publication
    Corresponds to variant rs137854507 [ dbSNP | Ensembl ].
    VAR_065007
    Natural varianti96 – 961Missing in CGD2. 1 Publication
    VAR_065008
    Natural varianti102 – 1021R → P in CGD2. 1 Publication
    Corresponds to variant rs137854515 [ dbSNP | Ensembl ].
    VAR_065009
    Natural varianti108 – 1081D → V in CGD2. 1 Publication
    Corresponds to variant rs137854509 [ dbSNP | Ensembl ].
    VAR_065010
    Natural varianti128 – 1281A → V in CGD2. 1 Publication
    Corresponds to variant rs119103274 [ dbSNP | Ensembl ].
    VAR_017389
    Natural varianti137 – 1371W → R in CGD2. 1 Publication
    Corresponds to variant rs137854516 [ dbSNP | Ensembl ].
    VAR_065011
    Natural varianti140 – 1401A → D in CGD2. 1 Publication
    Corresponds to variant rs137854520 [ dbSNP | Ensembl ].
    VAR_065012
    Natural varianti160 – 1612DK → EV in CGD2.
    VAR_017390
    Natural varianti169 – 1691Q → E in CGD2. 1 Publication
    Corresponds to variant rs137854517 [ dbSNP | Ensembl ].
    VAR_065013
    Natural varianti184 – 1841R → P in CGD2. 1 Publication
    Corresponds to variant rs137854518 [ dbSNP | Ensembl ].
    VAR_065014
    Natural varianti196 – 1961Missing in CGD2. 1 Publication
    VAR_065015
    Natural varianti202 – 2021A → V in CGD2. 1 Publication
    Corresponds to variant rs137854508 [ dbSNP | Ensembl ].
    VAR_065016
    Natural varianti419 – 4191N → I in CGD2. 2 Publications
    Corresponds to variant rs35012521 [ dbSNP | Ensembl ].
    VAR_052621

    Keywords - Diseasei

    Chronic granulomatous disease, Disease mutation

    Organism-specific databases

    MIMi233710. phenotype.
    Orphaneti379. Chronic granulomatous disease.
    PharmGKBiPA31464.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 526526Neutrophil cytosol factor 2PRO_0000106361Add
    BLAST

    Proteomic databases

    MaxQBiP19878.
    PaxDbiP19878.
    PRIDEiP19878.

    PTM databases

    PhosphoSiteiP19878.

    Expressioni

    Gene expression databases

    ArrayExpressiP19878.
    BgeeiP19878.
    CleanExiHS_NCF2.
    GenevestigatoriP19878.

    Organism-specific databases

    HPAiCAB022160.
    HPA002327.
    HPA006040.

    Interactioni

    Subunit structurei

    Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9).8 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GNAI2P048994EBI-489611,EBI-353997
    GNB1P628732EBI-489611,EBI-357130
    NCF1P1459811EBI-489611,EBI-395044
    NCF4Q150805EBI-489611,EBI-1036870

    Protein-protein interaction databases

    BioGridi110768. 16 interactions.
    DIPiDIP-76N.
    IntActiP19878. 8 interactions.
    MINTiMINT-151560.
    STRINGi9606.ENSP00000356505.

    Structurei

    Secondary structure

    1
    526
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi3 – 1816
    Helixi22 – 309
    Beta strandi32 – 343
    Helixi37 – 4913
    Helixi53 – 6614
    Helixi71 – 8313
    Helixi87 – 9913
    Turni100 – 1034
    Beta strandi105 – 1084
    Helixi110 – 1123
    Beta strandi117 – 1193
    Helixi120 – 13314
    Helixi137 – 14812
    Helixi154 – 1574
    Helixi158 – 16710
    Helixi187 – 1915
    Beta strandi243 – 2475
    Beta strandi255 – 2584
    Beta strandi266 – 2694
    Beta strandi274 – 2763
    Beta strandi278 – 2825
    Beta strandi285 – 2895
    Beta strandi294 – 2963
    Beta strandi352 – 36615
    Helixi372 – 38211
    Helixi387 – 3893
    Beta strandi392 – 3943
    Turni407 – 4093
    Helixi410 – 4145
    Beta strandi421 – 4266
    Beta strandi460 – 4634
    Beta strandi472 – 4754
    Beta strandi483 – 49311
    Beta strandi495 – 4984
    Beta strandi503 – 5064
    Helixi508 – 5103

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1E96X-ray2.40B1-203[»]
    1HH8X-ray1.80A1-213[»]
    1K4UNMR-S455-516[»]
    1OEYX-ray2.00A/B/C/D352-429[»]
    1WM5X-ray1.95A1-203[»]
    2DMONMR-A243-297[»]
    ProteinModelPortaliP19878.
    SMRiP19878. Positions 2-185, 242-297, 352-428, 455-516.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP19878.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati37 – 7034TPR 1Add
    BLAST
    Repeati71 – 10434TPR 2Add
    BLAST
    Repeati121 – 15434TPR 3Add
    BLAST
    Domaini240 – 29960SH3 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini351 – 42979OPRAdd
    BLAST
    Domaini457 – 51660SH3 2PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.1 Publication

    Sequence similaritiesi

    Belongs to the NCF2/NOXA1 family.Curated
    Contains 1 OPR domain.Curated
    Contains 2 SH3 domains.PROSITE-ProRule annotation
    Contains 3 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, SH3 domain, TPR repeat

    Phylogenomic databases

    eggNOGiNOG248396.
    HOGENOMiHOG000237312.
    HOVERGENiHBG001521.
    KOiK08010.
    OMAiYSQVRDM.
    OrthoDBiEOG7G1V62.
    PhylomeDBiP19878.
    TreeFamiTF329087.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    InterProiIPR000270. OPR_PB1.
    IPR001452. SH3_domain.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF00564. PB1. 1 hit.
    PF00018. SH3_1. 2 hits.
    PF00515. TPR_1. 2 hits.
    [Graphical view]
    PRINTSiPR00452. SH3DOMAIN.
    SMARTiSM00666. PB1. 1 hit.
    SM00326. SH3. 2 hits.
    SM00028. TPR. 3 hits.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 2 hits.
    PROSITEiPS50002. SH3. 2 hits.
    PS50005. TPR. 3 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P19878-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSLVEAISLW NEGVLAADKK DWKGALDAFS AVQDPHSRIC FNIGCMYTIL    50
    KNMTEAEKAF TRSINRDKHL AVAYFQRGML YYQTEKYDLA IKDLKEALIQ 100
    LRGNQLIDYK ILGLQFKLFA CEVLYNIAFM YAKKEEWKKA EEQLALATSM 150
    KSEPRHSKID KAMECVWKQK LYEPVVIPVG KLFRPNERQV AQLAKKDYLG 200
    KATVVASVVD QDSFSGFAPL QPQAAEPPPR PKTPEIFRAL EGEAHRVLFG 250
    FVPETKEELQ VMPGNIVFVL KKGNDNWATV MFNGQKGLVP CNYLEPVELR 300
    IHPQQQPQEE SSPQSDIPAP PSSKAPGRPQ LSPGQKQKEE PKEVKLSVPM 350
    PYTLKVHYKY TVVMKTQPGL PYSQVRDMVS KKLELRLEHT KLSYRPRDSN 400
    ELVPLSEDSM KDAWGQVKNY CLTLWCENTV GDQGFPDEPK ESEKADANNQ 450
    TTEPQLKKGS QVEALFSYEA TQPEDLEFQE GDIILVLSKV NEEWLEGECK 500
    GKVGIFPKVF VEDCATTDLE STRREV 526
    Length:526
    Mass (Da):59,762
    Last modified:February 1, 1996 - v2
    Checksum:iEC136766E1915376
    GO
    Isoform 2 (identifier: P19878-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         123-203: Missing.
         502-526: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:420
    Mass (Da):47,515
    Checksum:iD45BFF944F0CE53C
    GO
    Isoform 3 (identifier: P19878-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         123-167: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:481
    Mass (Da):54,446
    Checksum:i4A15D34EA01887D6
    GO
    Isoform 4 (identifier: P19878-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         123-203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:445
    Mass (Da):50,337
    Checksum:i88E274CACEDFFBC7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 213Missing in CGD2. 1 Publication
    VAR_017387
    Natural varianti42 – 421N → S in CGD2. 1 Publication
    Corresponds to variant rs137854514 [ dbSNP | Ensembl ].
    VAR_065002
    Natural varianti44 – 441G → C in CGD2. 1 Publication
    Corresponds to variant rs137854510 [ dbSNP | Ensembl ].
    VAR_065003
    Natural varianti44 – 441G → R in CGD2. 2 Publications
    Corresponds to variant rs137854510 [ dbSNP | Ensembl ].
    VAR_065004
    Natural varianti58 – 581Missing in CGD2. 1 Publication
    VAR_065005
    Natural varianti77 – 771R → Q in CGD2. 2 Publications
    Corresponds to variant rs119103275 [ dbSNP | Ensembl ].
    VAR_017388
    Natural varianti78 – 781G → E in CGD2. 1 Publication
    Corresponds to variant rs137854519 [ dbSNP | Ensembl ].
    VAR_008904
    Natural varianti79 – 791M → V.1 Publication
    Corresponds to variant rs137854512 [ dbSNP | Ensembl ].
    VAR_065006
    Natural varianti93 – 931D → E in CGD2. 1 Publication
    Corresponds to variant rs137854507 [ dbSNP | Ensembl ].
    VAR_065007
    Natural varianti96 – 961Missing in CGD2. 1 Publication
    VAR_065008
    Natural varianti102 – 1021R → P in CGD2. 1 Publication
    Corresponds to variant rs137854515 [ dbSNP | Ensembl ].
    VAR_065009
    Natural varianti108 – 1081D → V in CGD2. 1 Publication
    Corresponds to variant rs137854509 [ dbSNP | Ensembl ].
    VAR_065010
    Natural varianti128 – 1281A → V in CGD2. 1 Publication
    Corresponds to variant rs119103274 [ dbSNP | Ensembl ].
    VAR_017389
    Natural varianti137 – 1371W → R in CGD2. 1 Publication
    Corresponds to variant rs137854516 [ dbSNP | Ensembl ].
    VAR_065011
    Natural varianti140 – 1401A → D in CGD2. 1 Publication
    Corresponds to variant rs137854520 [ dbSNP | Ensembl ].
    VAR_065012
    Natural varianti160 – 1612DK → EV in CGD2.
    VAR_017390
    Natural varianti169 – 1691Q → E in CGD2. 1 Publication
    Corresponds to variant rs137854517 [ dbSNP | Ensembl ].
    VAR_065013
    Natural varianti181 – 1811K → R.7 Publications
    Corresponds to variant rs2274064 [ dbSNP | Ensembl ].
    VAR_018477
    Natural varianti184 – 1841R → P in CGD2. 1 Publication
    Corresponds to variant rs137854518 [ dbSNP | Ensembl ].
    VAR_065014
    Natural varianti196 – 1961Missing in CGD2. 1 Publication
    VAR_065015
    Natural varianti202 – 2021A → V in CGD2. 1 Publication
    Corresponds to variant rs137854508 [ dbSNP | Ensembl ].
    VAR_065016
    Natural varianti279 – 2791T → M.
    Corresponds to variant rs13306581 [ dbSNP | Ensembl ].
    VAR_034129
    Natural varianti297 – 2971V → A.
    Corresponds to variant rs35937854 [ dbSNP | Ensembl ].
    VAR_034130
    Natural varianti328 – 3281R → K.2 Publications
    Corresponds to variant rs137854511 [ dbSNP | Ensembl ].
    VAR_018478
    Natural varianti369 – 3691G → R.1 Publication
    Corresponds to variant rs137854513 [ dbSNP | Ensembl ].
    VAR_065017
    Natural varianti389 – 3891H → Q.4 Publications
    Corresponds to variant rs17849502 [ dbSNP | Ensembl ].
    VAR_052620
    Natural varianti395 – 3951R → W Impairs interaction with NCF4. 1 Publication
    Corresponds to variant rs13306575 [ dbSNP | Ensembl ].
    VAR_008905
    Natural varianti419 – 4191N → I in CGD2. 2 Publications
    Corresponds to variant rs35012521 [ dbSNP | Ensembl ].
    VAR_052621

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei123 – 20381Missing in isoform 2 and isoform 4. 1 PublicationVSP_045259Add
    BLAST
    Alternative sequencei123 – 16745Missing in isoform 3. 1 PublicationVSP_045260Add
    BLAST
    Alternative sequencei502 – 52625Missing in isoform 2. 1 PublicationVSP_045261Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M32011 mRNA. Translation: AAA36379.1.
    U00788
    , U00776, U00777, U00778, U00779, U00780, U00781, U00782, U00783, U00784, U00785, U00786, U00787 Genomic DNA. Translation: AAB60320.1.
    AF527950 mRNA. Translation: AAM89263.1.
    BT007439 mRNA. Translation: AAP36107.1.
    AK296672 mRNA. Translation: BAG59269.1.
    AK298713 mRNA. Translation: BAG60869.1.
    AK312666 mRNA. Translation: BAG35548.1.
    DQ314879 Genomic DNA. Translation: ABC40738.1.
    AL137800 Genomic DNA. Translation: CAC19686.1.
    CH471067 Genomic DNA. Translation: EAW91160.1.
    BC001606 mRNA. Translation: AAH01606.1.
    CCDSiCCDS1356.1. [P19878-1]
    CCDS53446.1. [P19878-4]
    CCDS53447.1. [P19878-3]
    PIRiA34855.
    RefSeqiNP_000424.2. NM_000433.3. [P19878-1]
    NP_001121123.1. NM_001127651.2. [P19878-1]
    NP_001177718.1. NM_001190789.1. [P19878-4]
    NP_001177723.1. NM_001190794.1. [P19878-3]
    UniGeneiHs.587558.

    Genome annotation databases

    EnsembliENST00000367535; ENSP00000356505; ENSG00000116701. [P19878-1]
    ENST00000367536; ENSP00000356506; ENSG00000116701. [P19878-1]
    ENST00000413720; ENSP00000399294; ENSG00000116701. [P19878-3]
    ENST00000418089; ENSP00000407217; ENSG00000116701. [P19878-4]
    GeneIDi4688.
    KEGGihsa:4688.
    UCSCiuc001gqj.4. human. [P19878-1]

    Polymorphism databases

    DMDMi1346669.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NCF2base

    NCF2 deficiency database

    Mendelian genes neutrophil cytosolic factor 2 (NCF2)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M32011 mRNA. Translation: AAA36379.1 .
    U00788
    , U00776 , U00777 , U00778 , U00779 , U00780 , U00781 , U00782 , U00783 , U00784 , U00785 , U00786 , U00787 Genomic DNA. Translation: AAB60320.1 .
    AF527950 mRNA. Translation: AAM89263.1 .
    BT007439 mRNA. Translation: AAP36107.1 .
    AK296672 mRNA. Translation: BAG59269.1 .
    AK298713 mRNA. Translation: BAG60869.1 .
    AK312666 mRNA. Translation: BAG35548.1 .
    DQ314879 Genomic DNA. Translation: ABC40738.1 .
    AL137800 Genomic DNA. Translation: CAC19686.1 .
    CH471067 Genomic DNA. Translation: EAW91160.1 .
    BC001606 mRNA. Translation: AAH01606.1 .
    CCDSi CCDS1356.1. [P19878-1 ]
    CCDS53446.1. [P19878-4 ]
    CCDS53447.1. [P19878-3 ]
    PIRi A34855.
    RefSeqi NP_000424.2. NM_000433.3. [P19878-1 ]
    NP_001121123.1. NM_001127651.2. [P19878-1 ]
    NP_001177718.1. NM_001190789.1. [P19878-4 ]
    NP_001177723.1. NM_001190794.1. [P19878-3 ]
    UniGenei Hs.587558.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1E96 X-ray 2.40 B 1-203 [» ]
    1HH8 X-ray 1.80 A 1-213 [» ]
    1K4U NMR - S 455-516 [» ]
    1OEY X-ray 2.00 A/B/C/D 352-429 [» ]
    1WM5 X-ray 1.95 A 1-203 [» ]
    2DMO NMR - A 243-297 [» ]
    ProteinModelPortali P19878.
    SMRi P19878. Positions 2-185, 242-297, 352-428, 455-516.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110768. 16 interactions.
    DIPi DIP-76N.
    IntActi P19878. 8 interactions.
    MINTi MINT-151560.
    STRINGi 9606.ENSP00000356505.

    PTM databases

    PhosphoSitei P19878.

    Polymorphism databases

    DMDMi 1346669.

    Proteomic databases

    MaxQBi P19878.
    PaxDbi P19878.
    PRIDEi P19878.

    Protocols and materials databases

    DNASUi 4688.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367535 ; ENSP00000356505 ; ENSG00000116701 . [P19878-1 ]
    ENST00000367536 ; ENSP00000356506 ; ENSG00000116701 . [P19878-1 ]
    ENST00000413720 ; ENSP00000399294 ; ENSG00000116701 . [P19878-3 ]
    ENST00000418089 ; ENSP00000407217 ; ENSG00000116701 . [P19878-4 ]
    GeneIDi 4688.
    KEGGi hsa:4688.
    UCSCi uc001gqj.4. human. [P19878-1 ]

    Organism-specific databases

    CTDi 4688.
    GeneCardsi GC01M183524.
    GeneReviewsi NCF2.
    HGNCi HGNC:7661. NCF2.
    HPAi CAB022160.
    HPA002327.
    HPA006040.
    MIMi 233710. phenotype.
    608515. gene.
    neXtProti NX_P19878.
    Orphaneti 379. Chronic granulomatous disease.
    PharmGKBi PA31464.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG248396.
    HOGENOMi HOG000237312.
    HOVERGENi HBG001521.
    KOi K08010.
    OMAi YSQVRDM.
    OrthoDBi EOG7G1V62.
    PhylomeDBi P19878.
    TreeFami TF329087.

    Enzyme and pathway databases

    Reactomei REACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
    REACT_121256. Phagosomal maturation (early endosomal stage).

    Miscellaneous databases

    ChiTaRSi NCF2. human.
    EvolutionaryTracei P19878.
    GeneWikii Neutrophil_cytosolic_factor_2.
    GenomeRNAii 4688.
    NextBioi 18076.
    PROi P19878.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P19878.
    Bgeei P19878.
    CleanExi HS_NCF2.
    Genevestigatori P19878.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    InterProi IPR000270. OPR_PB1.
    IPR001452. SH3_domain.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF00564. PB1. 1 hit.
    PF00018. SH3_1. 2 hits.
    PF00515. TPR_1. 2 hits.
    [Graphical view ]
    PRINTSi PR00452. SH3DOMAIN.
    SMARTi SM00666. PB1. 1 hit.
    SM00326. SH3. 2 hits.
    SM00028. TPR. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 2 hits.
    PROSITEi PS50002. SH3. 2 hits.
    PS50005. TPR. 3 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src."
      Leto T.L., Lomax K.J., Volpp B.D., Nunoi H., Sechler J.M.G., Nauseef W.M., Clark R.A., Gallin J.I., Malech H.L.
      Science 248:727-730(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease."
      Kenney R.T., Malech H.L., Epstein N.D., Roberts R.L., Leto T.L.
      Blood 82:3739-3744(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Expression of a p67(phox) homolog in Caco-2 cells giving O(2)(-)-reconstituting ability to cytochrome b(558) together with recombinant p47(phox)."
      Yoshida L.S., Nishida S., Shimoyama T., Kawahara T., Rokutan K., Tsunawaki S.
      Biochem. Biophys. Res. Commun. 296:1322-1328(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, VARIANTS ARG-181; LYS-328 AND GLN-389.
      Tissue: Colon adenocarcinoma.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-181 AND GLN-389.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT ARG-181.
      Tissue: Umbilical cord blood.
    6. NHLBI resequencing and genotyping service (RS&G)
      Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-181.
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-181.
      Tissue: Lymphoma.
    10. "JFC1, a novel tandem C2 domain-containing protein associated with the leukocyte NADPH oxidase."
      McAdara Berkowitz J.K., Catz S.D., Johnson J.L., Ruedi J.M., Thon V., Babior B.M.
      J. Biol. Chem. 276:18855-18862(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SYTL1.
    11. "Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases."
      Takeya R., Ueno N., Kami K., Taura M., Kohjima M., Izaki T., Nunoi H., Sumimoto H.
      J. Biol. Chem. 278:25234-25246(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NOXO1.
    12. "The arachidonic acid-binding protein S100A8/A9 promotes NADPH oxidase activation by interaction with p67phox and Rac-2."
      Kerkhoff C., Nacken W., Benedyk M., Dagher M.C., Sopalla C., Doussiere J.
      FASEB J. 19:467-469(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH S100A8 AND CALPROTECTIN.
    13. "Full-length p40phox structure suggests a basis for regulation mechanism of its membrane binding."
      Honbou K., Minakami R., Yuzawa S., Takeya R., Suzuki N.N., Kamakura S., Sumimoto H., Inagaki F.
      EMBO J. 26:1176-1186(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NCF4, DOMAIN OPR/PB1.
    14. "Structure of the TPR domain of p67phox in complex with Rac.GTP."
      Lapouge K., Smith S.J., Walker P.A., Gamblin S.J., Smerdon S.J., Rittinger K.
      Mol. Cell 6:899-907(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 1-203 IN COMPLEX WITH RAC1.
    15. "Diverse recognition of non-PxxP peptide ligands by the SH3 domains from p67(phox), Grb2 and Pex13p."
      Kami K., Takeya R., Sumimoto H., Kohda D.
      EMBO J. 21:4268-4276(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 455-516 IN COMPLEX WITH NCF1, INTERACTION WITH NCF1.
    16. "PB1 domain-mediated heterodimerization in NADPH oxidase and signaling complexes of atypical protein kinase C with Par6 and p62."
      Wilson M.I., Gill D.J., Perisic O., Quinn M.T., Williams R.L.
      Mol. Cell 12:39-50(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 352-429 IN COMPLEX WITH NCF4, SUBUNIT, CHARACTERIZATION OF VARIANT TRP-395, INTERACTION WITH NCF4.
    17. "Solution structure of the 1st SH3 domain from human neutrophil cytosol factor 2 (NCF-2)."
      RIKEN structural genomics initiative (RSGI)
      Submitted (MAY-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 242-297.
    18. "Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers."
      de Boer M., Hilarius-Stokman P.M., Hossle J.P., Verhoeven A.J., Graf N., Kenney R.T., Seger R., Roos D.
      Blood 83:531-536(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CGD2 GLU-78.
    19. "Identification of a double mutation (D160V-K161E) (sic) in the p67phox gene of a chronic granulomatous disease patient."
      Bonizzato A., Russo M.P., Donini M., Dusi S.
      Biochem. Biophys. Res. Commun. 231:861-863(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CGD2 160-GLU-VAL-161.
    20. "Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox."
      Patino P.J., Rae J., Noack D., Erickson R., Ding J., Garcia de Olarte D., Curnutte J.T.
      Blood 94:2505-2514(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CGD2 19-LYS--ASP-21 DEL, VARIANTS VAL-79; ARG-181; LYS-328; GLN-389 AND TRP-395.
    21. "Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase."
      Noack D., Rae J., Cross A.R., Munoz J., Salmen S., Mendoza J.A., Rossi N., Curnutte J.T., Heyworth P.G.
      Hum. Genet. 105:460-467(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CGD2 GLN-77 AND VAL-128, VARIANTS ARG-181; ARG-369 AND GLN-389.
    22. "Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update)."
      Cross A.R., Noack D., Rae J., Curnutte J.T., Heyworth P.G.
      Blood Cells Mol. Dis. 26:561-565(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CGD2 ARG-44.
    23. Cited for: VARIANT CGD2 ILE-419.
    24. "Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease."
      Yu G., Hong D.K., Dionis K.Y., Rae J., Heyworth P.G., Curnutte J.T., Lewis D.B.
      Clin. Immunol. 128:117-126(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CGD2 ARG-44 AND VAL-108.
    25. "Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations."
      Koker M.Y., Sanal O., van Leeuwen K., de Boer M., Metin A., Patiroglu T., Ozgur T.T., Tezcan I., Roos D.
      Eur. J. Clin. Invest. 39:942-951(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CGD2 GLU-93 AND VAL-202.
    26. "Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)."
      Roos D., Kuhns D.B., Maddalena A., Bustamante J., Kannengiesser C., de Boer M., van Leeuwen K., Koker M.Y., Wolach B., Roesler J., Malech H.L., Holland S.M., Gallin J.I., Stasia M.J.
      Blood Cells Mol. Dis. 44:291-299(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CGD2 SER-42; CYS-44; LYS-58 DEL; GLN-77; GLU-96 DEL; PRO-102; ARG-137; ASP-140; GLU-169; PRO-184; LYS-196 DEL AND ILE-419.

    Entry informationi

    Entry nameiNCF2_HUMAN
    AccessioniPrimary (citable) accession number: P19878
    Secondary accession number(s): B2R6Q1
    , B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, Q2PP06, Q8NFC7, Q9BV51
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 169 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3