POLQ Chromosome 3
DNA polymerase theta
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What This Gene Does
Enables several functions, including catalytic activity, acting on DNA; identical protein binding activity; and magnesium ion binding activity. Involved in DNA metabolic process; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. Is active in mitochondrial nucleoid; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
3q13.33
Ensembl
ENSG00000051341
Associated Conditions (2)
Hereditary breast ovarian cancer syndrome
POLQ-related disorder
Key Variants
RS546221341
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, POLQ-related disorder, Hereditary breast ovarian cancer syndrome
Health Risk
RS576293240
Conflicting classifications of pathogenicity
POLQ-related disorder, POLQ-related disorder
Health Risk
RS77744524
Conflicting classifications of pathogenicity
POLQ-related disorder, POLQ-related disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS546221341 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, POLQ-related disorder, Hereditary breast ovarian cancer syndrome |
| RS576293240 | Health Risk | Conflicting classifications of pathogenicity | POLQ-related disorder, POLQ-related disorder |
| RS77744524 | Health Risk | Conflicting classifications of pathogenicity | POLQ-related disorder, POLQ-related disorder |