POLQ DNA polymerase theta
Gene ID: 10721, updated on 14-Nov-2024Gene type: protein coding
Also known as: PRO0327
- See all available tests in GTR for this gene
- Go to complete Gene record for POLQ
- Go to Variation Viewer for POLQ variants
Summary
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, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. GeneReviews: Not available | |
| The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. GeneReviews: Not available |
Genomic context
- Location:
- 3q13.33
- Sequence:
- Chromosome: 3; NC_000003.12 (121431431..121545988, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POLQ variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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