POLQ (DNA polymerase theta)

2003-12-01  

Identity

HGNC
POLQ
LOCATION
3q13.33
LOCUSID
10721
ALIAS
PRO0327
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10721
MIM: 604419
HGNC: 9186
Ensembl: ENSG00000051341

Variants:

dbSNP: 10721
ClinVar: 10721
TCGA: ENSG00000051341
COSMIC: POLQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000051341ENST00000264233O75417
ENSG00000051341ENST00000621776A0A087WXL3

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through MMEJ (alt-NHEJ)REACTOMER-HSA-5685939

References

Pubmed IDYearTitleCitations
256429632015Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair.177
256429602015Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination.150
256433232015Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ.89
154969862004High-efficiency bypass of DNA damage by human DNA polymerase Q.87
145762982003POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in human cells.77
206249542010DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability.64
185030842008Low-fidelity DNA synthesis by human DNA polymerase theta.62
166036392006A novel role of DNA polymerase eta in modulating cellular sensitivity to chemotherapeutic agents.53
147354622004DNA polymerase theta is preferentially expressed in lymphoid tissues and upregulated in human cancers.52
191882582009Human DNA polymerase theta possesses 5'-dRP lyase activity and functions in single-nucleotide base excision repair in vitro.48

Citation

Dessen P

POLQ (DNA polymerase theta)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41779/polq