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

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

rs137854507 in SMG7;NCF2 gene and Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II PMID 23910690 2013 Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

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

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 20167518 2010 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second 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 11112388 2000 Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

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

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 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 25937994 2014 Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.

rs10911363 in SMG7;NCF2 gene and Lupus Erythematosus, Systemic PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.