POLR2A Chromosome 17
RNA polymerase II subunit A
Upload your DNA to see your personal genotypes for variants in POLR2A.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000181222
Associated Conditions (5)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Inborn genetic diseases
POLR2A-related disorder
Severe global developmental delay
Neurodevelopmental disorder
Key Variants
RS1312169516
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS1376707591
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS200835893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2150882831
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS2508136381
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377745426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases
Health Risk
RS894700976
Conflicting classifications of pathogenicity
Inborn genetic diseases, POLR2A-related disorder, Inborn genetic diseases
Health Risk
RS148413593
Likely pathogenic
Health Risk
RS1567702275
Likely pathogenic
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS1597798503
Likely pathogenic
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS2070531732
Likely pathogenic
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
RS2070546216
Likely pathogenic
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1312169516 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1376707591 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS200835893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2150882831 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2508136381 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377745426 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases |
| RS894700976 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, POLR2A-related disorder, Inborn genetic diseases |
| RS148413593 | Health Risk | Likely pathogenic | — |
| RS1567702275 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597798503 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070531732 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070546216 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070581346 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070665204 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070680579 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070711917 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2150881295 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2150887186 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2150887735 | Health Risk | Likely pathogenic | — |
| RS2508112587 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2508139347 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2508190953 | Health Risk | Likely pathogenic | — |
| RS2508206458 | Health Risk | Likely pathogenic | — |
| RS779584016 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS887367647 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597796823 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597798340 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597798507 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597803125 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS2070588471 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1597803120 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases |
| RS2070561031 | Health Risk | Pathogenic/Likely pathogenic | Severe global developmental delay, Severe global developmental delay |
| RS2070732825 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS775858617 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder |