NCF4

neutrophil cytosolic factor 4

Summary

The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Known Variants318 total

rsidPosition (GRCh37)AllelesClassClinVar
rs188311222:37,256,846G/Aregulatory region variantbenign
rs14814176222:37,257,119C/T—likely benign
rs3456741722:37,257,177G/A—benign
rs214569646922:37,257,231G/A—likely benign
rs148866175522:37,257,235C/T—uncertain significance
rs76257632622:37,257,236G/A—uncertain significance
rs102848581522:37,257,239C/G—uncertain significance
rs37261210822:37,257,240C/T—likely benign
rs75637209522:37,257,241G/A—uncertain significance
rs160154366422:37,257,243G/A—likely benign
rs160154367022:37,257,247T/G—pathogenic
rs116834998322:37,257,248G/A—uncertain significance
rs37721726422:37,257,254C/A—likely benign
rs52999602722:37,257,255G/A—likely benign
rs193976777122:37,257,258G/T—likely benign
rs143901593522:37,257,265C/T—likely benign
rs482154422:37,258,503T/Cregulatory region variantbenign
rs3437741922:37,259,921T/C—benign
rs76248893922:37,260,080C/T—likely benign
rs20086526122:37,260,081G/A—conflicting classifications of pathogenicity
rs75954579722:37,260,084C/T—uncertain significance
rs214570258822:37,260,086G/A—likely pathogenic
rs251790776622:37,260,095A/G—uncertain significance
rs14732277422:37,260,104C/T—uncertain significance
rs13928922522:37,260,105G/A—likely benign
rs214570268622:37,260,111T/C—likely benign
rs57547039422:37,260,112G/A—uncertain significance
rs3437327622:37,260,117C/T—benign
rs100183588822:37,260,122C/T—uncertain significance
rs1085469522:37,260,123G/T—likely benign
rs57352524722:37,260,128A/G—uncertain significance
rs13931925222:37,260,132T/C—likely benign
rs193985800022:37,260,139A/C—uncertain significance
rs14999813722:37,260,141C/T—likely benign
rs77522926622:37,260,142G/A—uncertain significance
rs20082258222:37,260,144G/A—likely benign
rs214570281922:37,260,148A/G—uncertain significance
rs76685962822:37,260,155G/T—uncertain significance
rs20081819922:37,260,160A/C—likely benign
rs193986040222:37,260,161C/T—uncertain significance
rs193986089922:37,260,165C/A—uncertain significance
rs20021503022:37,260,185C/G—likely benign
rs251790821122:37,260,189T/A—likely benign
rs76077889522:37,260,190C/T—likely benign
rs214570305422:37,260,191C/T—likely benign
rs20111332222:37,260,243T/G——
rs90948522:37,260,677A/G—benign
rs209203122:37,260,813A/G—benign
rs3412196322:37,260,889T/C—likely benign
rs124801020322:37,260,945C/T—likely benign
rs75173693122:37,260,950G/A—likely benign
rs214570481122:37,260,951T/C—likely benign
rs76189905622:37,260,953C/T—likely benign
rs2844584022:37,260,960G/Asplice region variantpathogenic
rs160154718922:37,260,965T/A—uncertain significance
rs37157884922:37,260,967G/C—uncertain significance
rs142434356822:37,260,969C/A—likely benign
rs75363513422:37,260,972C/A—likely benign
rs75475922622:37,260,975G/A—likely benign
rs87665737722:37,260,986——pathogenic
rs14871533222:37,260,988G/A—uncertain significance
rs93233005222:37,261,007T/C—uncertain significance
rs74635319422:37,261,013G/T—uncertain significance
rs14353297922:37,261,015C/T—conflicting classifications of pathogenicity
rs76331432722:37,261,016G/A—uncertain significance
rs18317997822:37,261,021C/T—uncertain significance
rs36984756122:37,261,022G/A—uncertain significance
rs76200384722:37,261,023C/T—likely benign
rs75074365822:37,261,044C/T—likely benign
rs214570512022:37,261,047G/A—likely benign
rs138339550922:37,261,058G/A—uncertain significance
rs129290035222:37,261,060T/G—uncertain significance
rs37304113022:37,261,062C/T—likely benign
rs76637709322:37,261,063G/A—uncertain significance
rs37751065422:37,261,065G/A—likely benign
rs18820992022:37,261,071C/T—likely benign
rs77742645522:37,261,072A/G—uncertain significance
rs37344748922:37,261,081A/G—uncertain significance
rs3543174822:37,261,083T/C—likely benign
rs214570526422:37,261,090G/A—uncertain significance
rs193989276622:37,261,091C/A—uncertain significance
rs11230622522:37,261,097C/A—likely benign
rs193989333522:37,261,099C/G—uncertain significance
rs77461395722:37,261,101G/A—benign
rs136107911722:37,261,103C/T—uncertain significance
rs74837636622:37,261,110C/A—likely benign
rs37075487422:37,261,113A/T—uncertain significance
rs20005279622:37,261,120C/T—likely benign
rs20188190522:37,261,121G/A—likely benign
rs124568452122:37,261,123C/T—likely benign
rs75945760222:37,261,130C/T—likely benign
rs37123629522:37,261,131G/A—likely benign
rs3466607322:37,261,334C/G—likely benign
rs193995246222:37,263,415G/A—likely benign
rs20139804822:37,263,422G/T—likely benign
rs193995296922:37,263,426C/A—likely benign
rs127226644422:37,263,441C/T—likely benign
rs214571015922:37,263,442T/C—uncertain significance
rs77112980722:37,263,444C/T—likely benign
rs11227371222:37,263,445G/A—conflicting classifications of pathogenicity

Showing 100 of 318 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.