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MGP002035

UniProt Annotations

Entry Information
Gene Nameneutrophil cytosolic factor 2
Protein EntryNCF2_HUMAN
UniProt IDP19878
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P19878-1; Sequence=Displayed; Name=2; IsoId=P19878-2; Sequence=VSP_045259, VSP_045261; Note=No experimental confirmation available.; Name=3; IsoId=P19878-3; Sequence=VSP_045260; Note=No experimental confirmation available.; Name=4; IsoId=P19878-4; Sequence=VSP_045259; Note=No experimental confirmation available.;
DiseaseGranulomatous 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. {ECO:0000269|PubMed:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:11112388, ECO:0000269|PubMed:16937026, ECO:0000269|PubMed:18625437, ECO:0000269|PubMed:19624736, ECO:0000269|PubMed:20167518, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8286749, ECO:0000269|PubMed:9070911}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe OPR/PB1 domain mediates the association with NCF4/p40- PHOX. {ECO:0000269|PubMed:17290225}.
FunctionNCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO:0000269|PubMed:12207919}.
InteractionP04899:GNAI2; NbExp=4; IntAct=EBI-489611, EBI-353997; P62873:GNB1; NbExp=2; IntAct=EBI-489611, EBI-357130; P14598:NCF1; NbExp=11; IntAct=EBI-489611, EBI-395044; Q15080:NCF4; NbExp=5; IntAct=EBI-489611, EBI-1036870;
SimilarityBelongs to the NCF2/NOXA1 family. {ECO:0000305}.
SimilarityContains 1 OPR domain. {ECO:0000305}.
SimilarityContains 2 SH3 domains. {ECO:0000255|PROSITE- ProRule:PRU00192}.
SimilarityContains 3 TPR repeats. {ECO:0000255|PROSITE- ProRule:PRU00339}.
Subcellular LocationCytoplasm.
SubunitComponent 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). {ECO:0000269|PubMed:11090627, ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:12169629, ECO:0000269|PubMed:12207919, ECO:0000269|PubMed:12716910, ECO:0000269|PubMed:12887891, ECO:0000269|PubMed:15642721, ECO:0000269|PubMed:17290225}.
Web ResourceName=Mendelian genes neutrophil cytosolic factor 2 (NCF2); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/NCF2";
Web ResourceName=NCF2base; Note=NCF2 deficiency database; URL="http://structure.bmc.lu.se/idbase/NCF2base/";
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