POLQ DNA polymerase theta
Gene ID: 10721, updated on 5-Mar-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 catalytic activity, acting on DNA; chromatin binding activity; and identical protein binding activity. Involved in DNA repair; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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 | GeneView ReportGo to Variation Viewer for POLQ variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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