Gene: TP53BP1

Alternate names for this Gene: 53BP1|TDRD30|p202|p53BP1

Gene Summary: This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.3

Description of this Gene: tumor protein p53 binding protein 1

Type of Gene: protein-coding

rs190543502 in TP53BP1 gene and Acute Coronary Syndrome PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

rs150844304 in TP53BP1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs190543502 in TP53BP1 gene and Coronary heart disease PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

rs34212866 in TP53BP1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs150844304 in TP53BP1 gene and High density lipoprotein measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs575505283 in TP53BP1 gene and Platelet Count measurement PMID 27668658 2016 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

rs150844304 in TP53BP1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs150844304 in TP53BP1 gene and Triglycerides measurement PMID 27036123 2016 Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.