Gene: POLR2A

Alternate names for this Gene: NEDHIB|POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1

Gene Summary: This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: RNA polymerase II subunit A

Type of Gene: protein-coding

rs8753 in POLR2A gene and Central Nervous System Neoplasms PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs4354991 in POLR2A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs8753 in POLR2A gene and Glioma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs8071847 in POLR2A gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs4239258 in POLR2A gene and Secondary malignant neoplasm of colon and/or rectum PMID 30738427 2019 A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer.

rs6761 in POLR2A gene and Sex hormone binding globulin measurement PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

rs35894069 in POLR2A gene and Testosterone measurement PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.