Human Gene NCF2 (ENST00000367535.8_8) from GENCODE V47lift37
  Description: neutrophil cytosolic factor 2, transcript variant 1 (from RefSeq NM_000433.4)
Gencode Transcript: ENST00000367535.8_8
Gencode Gene: ENSG00000116701.16_10
Transcript (Including UTRs)
   Position: hg19 chr1:183,524,697-183,559,594 Size: 34,898 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr1:183,525,253-183,559,464 Size: 34,212 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:183,524,697-183,559,594)mRNA (may differ from genome)Protein (526 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NCF2_HUMAN
DESCRIPTION: RecName: Full=Neutrophil cytosol factor 2; Short=NCF-2; AltName: Full=67 kDa neutrophil oxidase factor; AltName: Full=NADPH oxidase activator 2; AltName: Full=Neutrophil NADPH oxidase factor 2; AltName: Full=p67-phox;
FUNCTION: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
SUBUNIT: Interacts with SYTL1 and RAC1. Interacts with NCF4. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9).
INTERACTION: P63000:RAC1; NbExp=2; IntAct=EBI-489611, EBI-413628;
SUBCELLULAR LOCATION: Cytoplasm.
DOMAIN: The OPR/PB1 domain mediates the association with NCF4/p40- PHOX.
DISEASE: Defects in NCF2 are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
SIMILARITY: Belongs to the NCF2/NOXA1 family.
SIMILARITY: Contains 1 OPR domain.
SIMILARITY: Contains 2 SH3 domains.
SIMILARITY: Contains 3 TPR repeats.
WEB RESOURCE: Name=NCF2base; Note=NCF2 deficiency database; URL="http://bioinf.uta.fi/NCF2base/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NCF2";
WEB RESOURCE: Name=Mendelian genes neutrophil cytosolic factor 2 (NCF2); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/NCF2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NCF2
Diseases sorted by gene-association score: chronic granulomatous disease due to deficiency of ncf-2* (1300), chronic granulomatous disease* (211), phagocyte bactericidal dysfunction (13), retinitis pigmentosa 47 (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 335.82 RPKM in Whole Blood
Total median expression: 553.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.50130-0.304 Picture PostScript Text
3' UTR -150.40556-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000270 - OPR_PB1
IPR000108 - p67phox
IPR001452 - SH3_domain
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00018 - SH3 domain
PF00564 - PB1 domain
PF07653 - Variant SH3 domain
PF13181 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat
PF14604 - Variant SH3 domain

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
50044 - SH3-domain
54277 - CAD & PB1 domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1E96 - X-ray MuPIT 1HH8 - X-ray MuPIT 1K4U - NMR MuPIT 1OEY - X-ray MuPIT 1WM5 - X-ray MuPIT 2DMO - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P19878
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0009055 electron carrier activity
GO:0016175 superoxide-generating NADPH oxidase activity
GO:0016176 superoxide-generating NADPH oxidase activator activity
GO:0048365 Rac GTPase binding

Biological Process:
GO:0006801 superoxide metabolic process
GO:0006909 phagocytosis
GO:0006968 cellular defense response
GO:0022900 electron transport chain
GO:0042554 superoxide anion generation
GO:0043085 positive regulation of catalytic activity
GO:0045087 innate immune response
GO:0045730 respiratory burst
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032010 phagolysosome
GO:0043020 NADPH oxidase complex


-  Descriptions from all associated GenBank mRNAs
  HW061186 - JP 2012529430-A/61: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482145 - Sequence 128 from Patent WO2011072091.
JB251994 - Sequence 61 from Patent EP2440214.
JE980437 - Sequence 128 from Patent EP2862929.
LP764893 - Sequence 61 from Patent EP3276004.
HW061187 - JP 2012529430-A/62: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482146 - Sequence 129 from Patent WO2011072091.
JB251995 - Sequence 62 from Patent EP2440214.
JE980438 - Sequence 129 from Patent EP2862929.
LP764894 - Sequence 62 from Patent EP3276004.
AB209647 - Homo sapiens premature mRNA for neutrophil cytosol factor 2 variant.
M32011 - Human neutrophil oxidase factor (p67-phox) mRNA, complete cds.
BC001606 - Homo sapiens neutrophil cytosolic factor 2, mRNA (cDNA clone MGC:2275 IMAGE:3542841), complete cds.
JD078329 - Sequence 59353 from Patent EP1572962.
JD064324 - Sequence 45348 from Patent EP1572962.
JD056721 - Sequence 37745 from Patent EP1572962.
AF527950 - Homo sapiens p67phox-like protein mRNA, complete cds.
JD098886 - Sequence 79910 from Patent EP1572962.
JD473530 - Sequence 454554 from Patent EP1572962.
AK296672 - Homo sapiens cDNA FLJ52318 complete cds, highly similar to Neutrophil cytosol factor 2.
JD504275 - Sequence 485299 from Patent EP1572962.
AK298713 - Homo sapiens cDNA FLJ60788 complete cds, highly similar to Neutrophil cytosol factor 2.
DQ893650 - Synthetic construct clone IMAGE:100006280; FLH187894.01X; RZPDo839E03150D neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) (NCF2) gene, encodes complete protein.
DQ895812 - Synthetic construct Homo sapiens clone IMAGE:100010272; FLH187890.01L; RZPDo839E03149D neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) (NCF2) gene, encodes complete protein.
BT007439 - Homo sapiens neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) mRNA, complete cds.
AK312666 - Homo sapiens cDNA, FLJ93058, highly similar to Homo sapiens neutrophil cytosolic factor 2 (65kDa, chronicgranulomatous disease, autosomal 2) (NCF2), mRNA.
KJ897225 - Synthetic construct Homo sapiens clone ccsbBroadEn_06619 NCF2 gene, encodes complete protein.
KR709849 - Synthetic construct Homo sapiens clone CCSBHm_00006805 NCF2 (NCF2) mRNA, encodes complete protein.
KR709850 - Synthetic construct Homo sapiens clone CCSBHm_00006806 NCF2 (NCF2) mRNA, encodes complete protein.
KR709851 - Synthetic construct Homo sapiens clone CCSBHm_00006811 NCF2 (NCF2) mRNA, encodes complete protein.
KR709852 - Synthetic construct Homo sapiens clone CCSBHm_00006812 NCF2 (NCF2) mRNA, encodes complete protein.
KU178216 - Homo sapiens neutrophil cytosolic factor 2 isoform 1 (NCF2) mRNA, partial cds.
KU178217 - Homo sapiens neutrophil cytosolic factor 2 isoform 3 (NCF2) mRNA, partial cds, alternatively spliced.
AB590135 - Synthetic construct DNA, clone: pFN21AE1377, Homo sapiens NCF2 gene for neutrophil cytosolic factor 2, without stop codon, in Flexi system.
CU674784 - Synthetic construct Homo sapiens gateway clone IMAGE:100017687 5' read NCF2 mRNA.
JD237973 - Sequence 218997 from Patent EP1572962.
JD541528 - Sequence 522552 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_fMLPpathway - fMLP induced chemokine gene expression in HMC-1 cells
h_rac1Pathway - Rac 1 cell motility signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P19878 (Reactome details) participates in the following event(s):

R-HSA-5218827 NADPH oxidase 2 (NOX2) complex binds RAC1
R-HSA-5668605 RAC2:GTP binds NOX2 complex
R-HSA-1222376 NOX2 generates superoxide from oxygen
R-HSA-5668735 RAC1:GTP binds NOX3 complex
R-HSA-1236967 Alkalization of the phagosomal lumen by NOX2
R-HSA-5218841 NADPH oxidase 2 generates superoxide from oxygen
R-HSA-5668629 Production of phagocyte oxygen radicals by NOX2 complex bound to RAC2:GTP
R-HSA-5668731 NOX3 complex:RAC1:GTP generates superoxide from oxygen
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5668599 RHO GTPases Activate NADPH Oxidases
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-194138 Signaling by VEGF
R-HSA-195258 RHO GTPase Effectors
R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-168249 Innate Immune System
R-HSA-2262752 Cellular responses to stress
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-168256 Immune System
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-162582 Signal Transduction
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, ENST00000367535.1, ENST00000367535.2, ENST00000367535.3, ENST00000367535.4, ENST00000367535.5, ENST00000367535.6, ENST00000367535.7, NCF2_HUMAN, NM_000433, NOXA2, P19878, P67PHOX, Q2PP06, Q8NFC7, Q9BV51, uc318fzm.1, uc318fzm.2
UCSC ID: ENST00000367535.8_8
RefSeq Accession: NM_000433.4
Protein: P19878 (aka NCF2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NCF2:
cgd (Chronic Granulomatous Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.