Gene: ATP6V1G2-DDX39B

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: ATP6V1G2-DDX39B readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: ATP6V1G2

Alternate names for this Gene: ATP6G|ATP6G2|NG38|VMA10

Gene Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: ATPase H+ transporting V1 subunit G2

Type of Gene: protein-coding

Gene: NFKBIL1

Alternate names for this Gene: IKBL|NFKBIL

Gene Summary: This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: NFKB inhibitor like 1

Type of Gene: protein-coding

rs2071591 in ATP6V1G2-DDX39B;ATP6V1G2;NFKBIL1 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs2071591 in ATP6V1G2-DDX39B;ATP6V1G2;NFKBIL1 gene and Myasthenia Gravis PMID 26562150 2016 Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations.