Gene: NCF4-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: NCF4 antisense RNA 1

Type of Gene: ncRNA

Gene: NCF4

Alternate names for this Gene: CGD3|NCF|P40PHOX|SH3PXD4

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: neutrophil cytosolic factor 4

Type of Gene: protein-coding

rs4821544 in NCF4-AS1;NCF4 gene and Allergic Reaction PMID 29679657 2019 Eleven loci with new reproducible genetic associations with allergic disease risk.

rs4821544 in NCF4-AS1;NCF4 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs387906808 in NCF4-AS1;NCF4 gene and Chronic granulomatous disease PMID 19692703 2009 A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

rs4821544 in NCF4-AS1;NCF4 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs4821544 in NCF4-AS1;NCF4 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs387906808 in NCF4-AS1;NCF4 gene and GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III PMID 19692703 2009 A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.