Online Mendelian Inheritance in Man (OMIM) (original) (raw)
* 612314
GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2
HGNC Approved Gene Symbol: GSTO2
Cytogenetic location: 10q25.1 Genomic coordinates (GRCh38) : 10:104,269,184-104,304,950 (from NCBI)
TEXT
Description
The omega class glutathione transferases (GST; EC 2.5.1.18) have poor activity with common GST substrates, but exhibit novel glutathione-dependent thioltransferase, dehydroascorbate reductase, and monomethylarsonate reductase activities, and they modulate Ca(2+) release by ryanodine receptors (e.g., RYR1, 180901) (Whitbread et al., 2003).
For background information on GSTs, see 605482.
Cloning and Expression
By sequencing a chromosome 10 BAC contig containing the GSTO1 gene (605482), Whitbread et al. (2003) identified GSTO2. The deduced 243-amino acid protein shares 64% identity with GSTO1. Northern blot analysis detected a 2-kb GSTO2 transcript highly expressed in testis, and a 1.26-kb GSTO2 transcript highly expressed in liver, kidney, and skeletal muscle, with lower expression in heart and reproductive tissues, predominantly testis, cervix, ovary, and prostate.
Gene Structure
Whitbread et al. (2003) determined that the GSTO2 gene contains 6 exons and spans 24.5 kb.
Mapping
By sequencing an unordered chromosome 10 contig containing GSTO1, Whitbread et al. (2003) mapped the GSTO2 gene to chromosome 10q24-q25, about 7.5-kb downstream of the GSTO1 gene.
Molecular Genetics
By PCR of an existing cDNA clone and by PCR of a testis cDNA library, Whitbread et al. (2003) identified a GSTO2 polymorphism: a 424A-C transition resulting in an asn142-to-asp (N142D) substitution.
REFERENCES
- Whitbread, A. K., Tetlow, N., Eyre, H. J., Sutherland, G. R., Board, P. G.Characterization of the human omega class glutathione transferase genes and associated polymorphisms. Pharmacogenetics 13: 131-144, 2003. [PubMed: 12618591] [Full Text: https://doi.org/10.1097/00008571-200303000-00003\]
Creation Date:
Patricia A. Hartz : 9/24/2008
Edit History:
carol : 09/24/2008