Gene: NCF2

Alternate names for this Gene: NCF-2|NOXA2|P67-PHOX|P67PHOX

Gene Summary: This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: neutrophil cytosolic factor 2

Type of Gene: protein-coding

Gene: SMG7

Alternate names for this Gene: C1orf16|EST1C|SGA56M

Gene Summary: This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: SMG7 nonsense mediated mRNA decay factor

Type of Gene: protein-coding

rs17849502 in NCF2;SMG7 gene and Celiac Disease PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.

rs137854510 in NCF2;SMG7 gene and Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II PMID 10598813 1999 Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

PMID 11112388 2000 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

PMID 9070911 1997 Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.

PMID 18625437 2008 Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

PMID 10498624 1999 Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.

PMID 8286749 1994 Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.

PMID 16937026 2006 Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

PMID 19624736 2009 Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PMID 20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

rs13306575 in NCF2;SMG7 gene and Lupus Erythematosus, Systemic PMID 26606652 2016 Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs17849502 in NCF2;SMG7 gene and Myositis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs17849502 in NCF2;SMG7 gene and Rheumatoid Arthritis PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs17849502 in NCF2;SMG7 gene and Systemic Scleroderma PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.