| 1352013 | POLR2A | RNA polymerase II subunit A | 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 a nd 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] | 17 | 7484366 | 7514616 | Human | 296 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1323374 | CTDP1 | CTD phosphatase subunit 1 | This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), maki ng it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] | 18 | 79676768 | 79756625 | Human | 168 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1323393 | CDC73 | cell division cycle 73 | This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltra nsferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] | 1 | 193122031 | 193254815 | Human | 1838 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733620 | GTF2A1 | general transcription factor IIA subunit 1 | Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is T FIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010] | 14 | 81175452 | 81221390 | Human | 102 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 737167 | GTF2A2 | general transcription factor IIA subunit 2 | Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008] | 15 | 59638062 | 59657515 | Human | 93 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1606801 | INTS1 | integrator complex subunit 1 | INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat e t al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 7 | 1470277 | 1504389 | Human | 142 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1602701 | INTS10 | integrator complex subunit 10 | INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 8 | 19817416 | 19852067 | Human | 71 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1603031 | INTS11 | integrator complex subunit 11 | The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 1 | 1311600 | 1324660 | Human | 128 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1601748 | INTS12 | integrator complex subunit 12 | INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 4 | 105682627 | 105708689 | Human | 61 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1606257 | INTS2 | integrator complex subunit 2 | INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat e t al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 17 | 61865367 | 61927982 | Human | 83 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1603936 | INTS4 | integrator complex subunit 4 | INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat e t al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] | 11 | 77874362 | 77994668 | Human | 59 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1602075 | LEO1 | LEO1 component of Paf1/RNA polymerase II complex | LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubM ed 15632063]).[supplied by OMIM, Mar 2008] | 15 | 51938025 | 51971778 | Human | 94 | description | gene, protein-coding, VALIDATED [RefSeq] |
