Name | 8-oxoguanine DNA glycosylase |
Symbol | OGG1 |
Aliases | HMMH; MUTM; OGH1; HOGG1; 8-hydroxyguanine DNA glycosylase |
Gene Product | - 8-oxoguanine DNA glycosylase, isoform 2d
- 8-oxoguanine DNA glycosylase, isoform 1b
- 8-oxoguanine DNA glycosylase, isoform 2c
- 8-oxoguanine DNA glycosylase, isoform 2a
- 8-oxoguanine DNA glycosylase, isoform 1a
- 8-oxoguanine DNA glycosylase, isoform 2e
- 8-oxoguanine DNA glycosylase, isoform 1c
- 8-oxoguanine DNA glycosylase, isoform 2b
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Category | - Mutation in Prostate cancer
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UniGene | Hs.96398 |
OMIM | 601982 |
Locus | 4968 |
Summary | This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. The N-terminus of this gene contains a mitochondrial targetting signal, essential for mitochondrial localization. |
Gene Ontology | |
Expression | EST (156 ESTs, 76 libraries) |
Tissue ? |
Frequency ? |
Count ? |
blood (1/27) | | 2/40686 |
brain (16/204) | | 34/362011 |
cervix (1/7) | | 4/28115 |
colon (2/853) | | 4/165626 |
embryo (1/19) | | 1/37976 |
eye (4/33) | | 9/93836 |
germ cell (1/7) | | 2/57383 |
head and neck (1/990) | | 1/79796 |
kidney (4/86) | | 15/132968 |
lung (6/312) | | 9/245386 |
oral cavity (2/18) | | 8/44567 |
pancreas (1/33) | | 1/117255 |
placenta (4/342) | | 11/157762 |
prostate (7/291) | | 11/109871 |
skin (1/31) | | 1/100815 |
stomach (6/312) | | 11/129930 |
testis (2/171) | | 2/117531 |
thymus (1/17) | | 1/5021 |
uncharacterized tissue (11/1773) | | 24/713325 |
uterus (4/212) | | 5/155110 |
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SAGE (10433800 tags, 207 libraries) |
Tissue ? |
Frequency ? |
Count ? |
blood (1/1) | | 1/48523 |
brain (17/19) | | 61/1916381 |
cerebellum (1/1) | | 1/51280 |
colon (7/8) | | 28/1175992 |
eye (5/6) | | 10/650511 |
heart (1/1) | | 4/253071 |
kidney (2/2) | | 2/73935 |
liver (1/1) | | 1/66861 |
lung (1/1) | | 3/178286 |
mammary gland (16/19) | | 73/1166582 |
muscle (2/2) | | 4/215456 |
ovary (9/10) | | 22/552465 |
pancreas (5/8) | | 12/393808 |
prostate (12/13) | | 35/1327986 |
skin (4/7) | | 6/88514 |
stomach (3/3) | | 5/302633 |
uncharacterized tissue (15/22) | | 54/1387674 |
vascular (3/3) | | 13/583842 |
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SNP | rs2072668 (G/C:intron);  rs1052133 (C/G:coding-nonsyn);  rs812536 (C/T:intron);  rs159150 (C/T:intron);  rs809784 (A/T:intron);  rs1801126 (G/A:mrna-utr);  rs1182801 (C/G:intron);  rs1053072 (G/A:locus-region);  rs810862 (C/T:intron);  rs2069058 (T/A:locus-region);  rs2472031 (C/G:intron);  rs415153 (T/A:intron);  rs2619496 (T/A:intron);  rs786512 (T/G:intron);  rs1805373 (A/G:coding-nonsyn);  rs1052138 (C/T:coding-nonsyn);  rs293794 (T/C:locus-region);  rs809256 (T/C:intron);  rs2471894 (T/C:intron);  rs2075747 (G/A:intron);  rs125701 (A/G:locus-region);  rs615501 (G/A:locus-region);  rs2304276 (G/A:locus-region);  rs1164274 (A/T:locus-region);   |
Evidence | Mutation in Prostate cancer
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