| Entrez Gene ID | 5431 |
|---|---|
| Official Gene Symbol | POLR2B (GeneCards) |
| Full name | RNA polymerase II subunit B |
| Location | 4q12 |
| Other ids | Vega : OTTHUMG00000128771 MIM : 180661 HGNC : HGNC:9188 Ensembl : ENSG00000047315 |
| Other names | RPB2, POL2RB, hRPB140 |
| Summary | This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 6342 | 5431 | POLR2B | 4 | 57888394 | 57888394 | Asymptomatic | HiSeq X Ten |
| 29525 | 5431 | POLR2B | 4 | 57889615 | 57889615 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |