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P19878

- NCF2_HUMAN

UniProt

P19878 - NCF2_HUMAN

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Protein

Neutrophil cytosol factor 2

Gene

NCF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 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
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
REACT_121256. Phagosomal maturation (early endosomal stage).
REACT_228166. VEGFA-VEGFR2 Pathway.

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
Complete GO annotation...

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.10 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. 2 Publications
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. 2 Publications
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

BgeeiP19878.
CleanExiHS_NCF2.
ExpressionAtlasiP19878. baseline and differential.
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. 18 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 – 1816Combined sources
Helixi22 – 309Combined sources
Beta strandi32 – 343Combined sources
Helixi37 – 4913Combined sources
Helixi53 – 6614Combined sources
Helixi71 – 8313Combined sources
Helixi87 – 9913Combined sources
Turni100 – 1034Combined sources
Beta strandi105 – 1084Combined sources
Helixi110 – 1123Combined sources
Beta strandi117 – 1193Combined sources
Helixi120 – 13314Combined sources
Helixi137 – 14812Combined sources
Helixi154 – 1574Combined sources
Helixi158 – 16710Combined sources
Helixi187 – 1915Combined sources
Beta strandi243 – 2475Combined sources
Beta strandi255 – 2584Combined sources
Beta strandi266 – 2694Combined sources
Beta strandi274 – 2763Combined sources
Beta strandi278 – 2825Combined sources
Beta strandi285 – 2895Combined sources
Beta strandi294 – 2963Combined sources
Beta strandi352 – 36615Combined sources
Helixi372 – 38211Combined sources
Helixi387 – 3893Combined sources
Beta strandi392 – 3943Combined sources
Turni407 – 4093Combined sources
Helixi410 – 4145Combined sources
Beta strandi421 – 4266Combined sources
Beta strandi460 – 4634Combined sources
Beta strandi472 – 4754Combined sources
Beta strandi483 – 49311Combined sources
Beta strandi495 – 4984Combined sources
Beta strandi503 – 5064Combined sources
Helixi508 – 5103Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00530000063843.
HOGENOMiHOG000237312.
HOVERGENiHBG001521.
InParanoidiP19878.
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_dom.
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

        10         20         30         40         50
MSLVEAISLW NEGVLAADKK DWKGALDAFS AVQDPHSRIC FNIGCMYTIL
60 70 80 90 100
KNMTEAEKAF TRSINRDKHL AVAYFQRGML YYQTEKYDLA IKDLKEALIQ
110 120 130 140 150
LRGNQLIDYK ILGLQFKLFA CEVLYNIAFM YAKKEEWKKA EEQLALATSM
160 170 180 190 200
KSEPRHSKID KAMECVWKQK LYEPVVIPVG KLFRPNERQV AQLAKKDYLG
210 220 230 240 250
KATVVASVVD QDSFSGFAPL QPQAAEPPPR PKTPEIFRAL EGEAHRVLFG
260 270 280 290 300
FVPETKEELQ VMPGNIVFVL KKGNDNWATV MFNGQKGLVP CNYLEPVELR
310 320 330 340 350
IHPQQQPQEE SSPQSDIPAP PSSKAPGRPQ LSPGQKQKEE PKEVKLSVPM
360 370 380 390 400
PYTLKVHYKY TVVMKTQPGL PYSQVRDMVS KKLELRLEHT KLSYRPRDSN
410 420 430 440 450
ELVPLSEDSM KDAWGQVKNY CLTLWCENTV GDQGFPDEPK ESEKADANNQ
460 470 480 490 500
TTEPQLKKGS QVEALFSYEA TQPEDLEFQE GDIILVLSKV NEEWLEGECK
510 520
GKVGIFPKVF VEDCATTDLE STRREV
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. 2 Publications
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. 2 Publications
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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. 18 interactions.
DIPi DIP-76N.
IntActi P19878. 8 interactions.
MINTi MINT-151560.
STRINGi 9606.ENSP00000356505.

Chemistry

DrugBanki DB00514. Dextromethorphan.

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.
GeneTreei ENSGT00530000063843.
HOGENOMi HOG000237312.
HOVERGENi HBG001521.
InParanoidi P19878.
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).
REACT_228166. VEGFA-VEGFR2 Pathway.

Miscellaneous databases

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

Gene expression databases

Bgeei P19878.
CleanExi HS_NCF2.
ExpressionAtlasi P19878. baseline and differential.
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_dom.
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

« Hide 'large scale' publications
  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: INVOLVEMENT IN CGD2, 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.
  27. "Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients."
    Koeker M.Y., Camcioglu Y., van Leeuwen K., Kilic S.S., Barlan I., Yilmaz M., Metin A., de Boer M., Avcilar H., Patiroglu T., Yildiran A., Yegin O., Tezcan I., Sanal O., Roos D.
    J. Allergy Clin. Immunol. 132:1156-1163(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CGD2 GLU-93 AND VAL-202.

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: November 26, 2014
This is version 171 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

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