HGNC Approved Gene Symbol:ATP6V1G2
Cytogenetic location:6p21.33 Genomic coordinates(GRCh38) :6:31,544,444-31,546,742 (from NCBI)
Vacuolar type ATPases are involved in bone resorption, glycosylation in the Golgi, degradation of cellular debris in lysosomes, and the processing of endocytosed receptor-ligand complexes.
By sequence analysis of cosmid clones of the G1 region of chromosome 6p21.3, followed by database analysis,Neville and Campbell (1999) identified cDNAs encoding 2 isoforms of ATP6G2. The full-length 118-amino acid protein is 82% similar to the cow protein. The other isoform encodes a 77-amino acid protein. RT-PCR analysis detected expression in lymphocytic but not monocytic or macrophage-like cell lines.
By sequence analysis,Neville and Campbell (1999) mapped the ATP6G2 gene to chromosome 6p21.3, approximately 1 kb telomeric to NFKBIL1 (601022) and centromeric to BAT1 (142560).
Neville, M. J., Campbell, R. D.A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC. J. Immun. 162: 4745-4754, 1999. [PubMed:10202016,related citations]
Alternative titles; symbols
HGNC Approved Gene Symbol: ATP6V1G2
Cytogenetic location: 6p21.33 Genomic coordinates(GRCh38) : 6:31,544,444-31,546,742(from NCBI)
Vacuolar type ATPases are involved in bone resorption, glycosylation in the Golgi, degradation of cellular debris in lysosomes, and the processing of endocytosed receptor-ligand complexes.
By sequence analysis of cosmid clones of the G1 region of chromosome 6p21.3, followed by database analysis, Neville and Campbell (1999) identified cDNAs encoding 2 isoforms of ATP6G2. The full-length 118-amino acid protein is 82% similar to the cow protein. The other isoform encodes a 77-amino acid protein. RT-PCR analysis detected expression in lymphocytic but not monocytic or macrophage-like cell lines.
By sequence analysis, Neville and Campbell (1999) mapped the ATP6G2 gene to chromosome 6p21.3, approximately 1 kb telomeric to NFKBIL1 (601022) and centromeric to BAT1 (142560).
Neville, M. J., Campbell, R. D.A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC. J. Immun. 162: 4745-4754, 1999. [PubMed: 10202016]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM