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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q11.23
Chromosome location (bp)
74774011 - 74789315
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production)....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005791[rough endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006612[protein targeting to membrane] GO:0006801[superoxide metabolic process] GO:0006915[apoptotic process] GO:0006968[cellular defense response] GO:0008289[lipid binding] GO:0009055[electron transfer activity] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016175[superoxide-generating NAD(P)H oxidase activity] GO:0016176[superoxide-generating NADPH oxidase activator activity] GO:0017124[SH3 domain binding] GO:0019898[extrinsic component of membrane] GO:0022900[electron transport chain] GO:0030425[dendrite] GO:0032010[phagolysosome] GO:0034614[cellular response to reactive oxygen species] GO:0035091[phosphatidylinositol binding] GO:0042554[superoxide anion generation] GO:0043020[NADPH oxidase complex] GO:0043025[neuronal cell body] GO:0043325[phosphatidylinositol-3,4-bisphosphate binding] GO:0045087[innate immune response] GO:0045730[respiratory burst] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0045893[positive regulation of DNA-templated transcription] GO:0046330[positive regulation of JNK cascade] GO:0060264[regulation of respiratory burst involved in inflammatory response] GO:0071276[cellular response to cadmium ion] GO:0071333[cellular response to glucose stimulus] GO:0071394[cellular response to testosterone stimulus] GO:1900745[positive regulation of p38MAPK cascade] GO:1903409[reactive oxygen species biosynthetic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
