POLR2A (RNA polymerase II subunit A)

Gene

• Entrez ID: 5430
• Gene name: RNA polymerase II subunit A
• Gene symbol: POLR2A
• Synonyms (NCBI Gene): NEDHIB, POLR2, POLRA, RPB1, RPBh1, RPO2, RPOL2, RpIILS, hRPB220, hsRPB1
• Chromosome: 17
• Chromosome location: 17p13.1
• 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 polyme

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1597796823	T>C	Pathogenic	Missense variant, coding sequence variant
rs1597798340	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597798503	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597798507	C>T	Pathogenic	Missense variant, coding sequence variant
rs1597803120	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1597803125	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025433	hsa-miR-34a-5p	Proteomics	21566225
MIRT051921	hsa-let-7b-5p	CLASH	23622248
MIRT051921	hsa-let-7b-5p	CLASH	23622248
MIRT051264	hsa-miR-16-5p	CLASH	23622248
MIRT050740	hsa-miR-17-3p	CLASH	23622248
MIRT048740	hsa-miR-93-5p	CLASH	23622248
MIRT047510	hsa-miR-10a-5p	CLASH	23622248
MIRT047400	hsa-miR-10b-5p	CLASH	23622248
MIRT044694	hsa-miR-320a	CLASH	23622248
MIRT044694	hsa-miR-320a	CLASH	23622248
MIRT044694	hsa-miR-320a	CLASH	23622248
MIRT043145	hsa-miR-324-5p	CLASH	23622248
MIRT042066	hsa-miR-484	CLASH	23622248
MIRT039757	hsa-miR-615-3p	CLASH	23622248
MIRT039557	hsa-miR-652-3p	CLASH	23622248
MIRT039231	hsa-miR-454-3p	CLASH	23622248
MIRT037520	hsa-miR-744-5p	CLASH	23622248
MIRT037520	hsa-miR-744-5p	CLASH	23622248
MIRT052702	hsa-miR-1260b	CLASH	23622248
MIRT439932	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439932	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1248376	hsa-miR-1207-3p	CLIP-seq
MIRT1248377	hsa-miR-1587	CLIP-seq
MIRT1248378	hsa-miR-2116	CLIP-seq
MIRT1248379	hsa-miR-214	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT1248381	hsa-miR-3168	CLIP-seq
MIRT1248382	hsa-miR-3174	CLIP-seq
MIRT1248383	hsa-miR-3194-3p	CLIP-seq
MIRT1248384	hsa-miR-3619-5p	CLIP-seq
MIRT1248385	hsa-miR-3714	CLIP-seq
MIRT1248386	hsa-miR-375	CLIP-seq
MIRT1248387	hsa-miR-378g	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248389	hsa-miR-3924	CLIP-seq
MIRT1248390	hsa-miR-4273	CLIP-seq
MIRT1248391	hsa-miR-4300	CLIP-seq
MIRT1248392	hsa-miR-4434	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248394	hsa-miR-4476	CLIP-seq
MIRT1248395	hsa-miR-4487	CLIP-seq
MIRT1248396	hsa-miR-4492	CLIP-seq
MIRT1248397	hsa-miR-4498	CLIP-seq
MIRT1248398	hsa-miR-4505	CLIP-seq
MIRT1248399	hsa-miR-4516	CLIP-seq
MIRT1248400	hsa-miR-4531	CLIP-seq
MIRT1248401	hsa-miR-4533	CLIP-seq
MIRT1248402	hsa-miR-4640-5p	CLIP-seq
MIRT1248403	hsa-miR-4656	CLIP-seq
MIRT1248404	hsa-miR-4675	CLIP-seq
MIRT1248405	hsa-miR-4677-5p	CLIP-seq
MIRT1248406	hsa-miR-4711-5p	CLIP-seq
MIRT1248407	hsa-miR-4713-3p	CLIP-seq
MIRT1248408	hsa-miR-4726-5p	CLIP-seq
MIRT1248409	hsa-miR-4727-5p	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq
MIRT1248411	hsa-miR-4731-5p	CLIP-seq
MIRT1248412	hsa-miR-4740-3p	CLIP-seq
MIRT1248413	hsa-miR-4741	CLIP-seq
MIRT1248414	hsa-miR-4742-5p	CLIP-seq
MIRT1248415	hsa-miR-4769-3p	CLIP-seq
MIRT1248416	hsa-miR-548an	CLIP-seq
MIRT1248417	hsa-miR-637	CLIP-seq
MIRT1248418	hsa-miR-761	CLIP-seq
MIRT1248419	hsa-miR-762	CLIP-seq
MIRT1248420	hsa-miR-873	CLIP-seq
MIRT1248421	hsa-miR-920	CLIP-seq
MIRT1248376	hsa-miR-1207-3p	CLIP-seq
MIRT2073321	hsa-miR-1321	CLIP-seq
MIRT2073322	hsa-miR-146a	CLIP-seq
MIRT2073323	hsa-miR-146b-5p	CLIP-seq
MIRT1248377	hsa-miR-1587	CLIP-seq
MIRT1248378	hsa-miR-2116	CLIP-seq
MIRT1248379	hsa-miR-214	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT2073324	hsa-miR-31	CLIP-seq
MIRT2073325	hsa-miR-3126-5p	CLIP-seq
MIRT1248383	hsa-miR-3194-3p	CLIP-seq
MIRT2073326	hsa-miR-3591-3p	CLIP-seq
MIRT2073327	hsa-miR-3612	CLIP-seq
MIRT1248384	hsa-miR-3619-5p	CLIP-seq
MIRT1248385	hsa-miR-3714	CLIP-seq
MIRT1248386	hsa-miR-375	CLIP-seq
MIRT1248387	hsa-miR-378g	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248389	hsa-miR-3924	CLIP-seq
MIRT1248390	hsa-miR-4273	CLIP-seq
MIRT1248391	hsa-miR-4300	CLIP-seq
MIRT2073328	hsa-miR-4419a	CLIP-seq
MIRT1248392	hsa-miR-4434	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248394	hsa-miR-4476	CLIP-seq
MIRT1248395	hsa-miR-4487	CLIP-seq
MIRT1248396	hsa-miR-4492	CLIP-seq
MIRT1248397	hsa-miR-4498	CLIP-seq
MIRT1248398	hsa-miR-4505	CLIP-seq
MIRT2073329	hsa-miR-4510	CLIP-seq
MIRT2073330	hsa-miR-4511	CLIP-seq
MIRT1248399	hsa-miR-4516	CLIP-seq
MIRT1248400	hsa-miR-4531	CLIP-seq
MIRT1248401	hsa-miR-4533	CLIP-seq
MIRT1248403	hsa-miR-4656	CLIP-seq
MIRT1248404	hsa-miR-4675	CLIP-seq
MIRT1248405	hsa-miR-4677-5p	CLIP-seq
MIRT1248406	hsa-miR-4711-5p	CLIP-seq
MIRT1248407	hsa-miR-4713-3p	CLIP-seq
MIRT1248409	hsa-miR-4727-5p	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq
MIRT1248411	hsa-miR-4731-5p	CLIP-seq
MIRT2073331	hsa-miR-4739	CLIP-seq
MIRT1248412	hsa-miR-4740-3p	CLIP-seq
MIRT1248413	hsa-miR-4741	CLIP-seq
MIRT1248414	hsa-miR-4742-5p	CLIP-seq
MIRT2073332	hsa-miR-4756-5p	CLIP-seq
MIRT1248415	hsa-miR-4769-3p	CLIP-seq
MIRT1248416	hsa-miR-548an	CLIP-seq
MIRT2073333	hsa-miR-589	CLIP-seq
MIRT2073334	hsa-miR-650	CLIP-seq
MIRT1248418	hsa-miR-761	CLIP-seq
MIRT1248419	hsa-miR-762	CLIP-seq
MIRT1248420	hsa-miR-873	CLIP-seq
MIRT1248421	hsa-miR-920	CLIP-seq
MIRT1248376	hsa-miR-1207-3p	CLIP-seq
MIRT2073322	hsa-miR-146a	CLIP-seq
MIRT2073323	hsa-miR-146b-5p	CLIP-seq
MIRT1248377	hsa-miR-1587	CLIP-seq
MIRT1248378	hsa-miR-2116	CLIP-seq
MIRT1248379	hsa-miR-214	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT1248381	hsa-miR-3168	CLIP-seq
MIRT1248382	hsa-miR-3174	CLIP-seq
MIRT1248383	hsa-miR-3194-3p	CLIP-seq
MIRT2073326	hsa-miR-3591-3p	CLIP-seq
MIRT1248384	hsa-miR-3619-5p	CLIP-seq
MIRT1248385	hsa-miR-3714	CLIP-seq
MIRT1248386	hsa-miR-375	CLIP-seq
MIRT1248387	hsa-miR-378g	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248389	hsa-miR-3924	CLIP-seq
MIRT1248390	hsa-miR-4273	CLIP-seq
MIRT1248391	hsa-miR-4300	CLIP-seq
MIRT1248392	hsa-miR-4434	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248395	hsa-miR-4487	CLIP-seq
MIRT1248396	hsa-miR-4492	CLIP-seq
MIRT1248397	hsa-miR-4498	CLIP-seq
MIRT1248398	hsa-miR-4505	CLIP-seq
MIRT1248399	hsa-miR-4516	CLIP-seq
MIRT1248400	hsa-miR-4531	CLIP-seq
MIRT1248402	hsa-miR-4640-5p	CLIP-seq
MIRT1248403	hsa-miR-4656	CLIP-seq
MIRT1248404	hsa-miR-4675	CLIP-seq
MIRT1248405	hsa-miR-4677-5p	CLIP-seq
MIRT1248406	hsa-miR-4711-5p	CLIP-seq
MIRT1248407	hsa-miR-4713-3p	CLIP-seq
MIRT1248408	hsa-miR-4726-5p	CLIP-seq
MIRT1248409	hsa-miR-4727-5p	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq
MIRT1248411	hsa-miR-4731-5p	CLIP-seq
MIRT1248412	hsa-miR-4740-3p	CLIP-seq
MIRT1248413	hsa-miR-4741	CLIP-seq
MIRT1248415	hsa-miR-4769-3p	CLIP-seq
MIRT1248416	hsa-miR-548an	CLIP-seq
MIRT2073333	hsa-miR-589	CLIP-seq
MIRT1248417	hsa-miR-637	CLIP-seq
MIRT1248418	hsa-miR-761	CLIP-seq
MIRT1248419	hsa-miR-762	CLIP-seq
MIRT1248420	hsa-miR-873	CLIP-seq
MIRT1248421	hsa-miR-920	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248409	hsa-miR-4727-5p	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq
MIRT1248415	hsa-miR-4769-3p	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248389	hsa-miR-3924	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248395	hsa-miR-4487	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq
MIRT1248380	hsa-miR-3064-3p	CLIP-seq
MIRT1248388	hsa-miR-3910	CLIP-seq
MIRT1248389	hsa-miR-3924	CLIP-seq
MIRT1248393	hsa-miR-4457	CLIP-seq
MIRT1248410	hsa-miR-4729	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	27193682
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0000974	Component	Prp19 complex	IDA	21536736
GO:0001172	Process	RNA-templated transcription	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	7622068
GO:0003677	Function	DNA binding	TAS	2999107
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	9852112, 23748380
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	NAS	7622068
GO:0003899	Function	DNA-directed RNA polymerase activity	TAS	2999107, 29849146
GO:0003968	Function	RNA-directed RNA polymerase activity	IDA	23395899
GO:0003968	Function	RNA-directed RNA polymerase activity	IEA
GO:0005515	Function	Protein binding	IPI	16239144
GO:0005515	Function	Protein binding	IPI	10075709, 10944529, 12527917, 14992727, 15563843, 15923622, 15992770, 16024656, 16239144, 17011493, 17234882, 17998332, 18550522, 18562274, 19819239, 20178742, 20562857, 21536736, 21994455, 22264791, 23066109, 23652018, 23748380, 24418534, 24814348, 24981860, 24997600, 25416956, 255
GO:0005634	Component	Nucleus	IDA	9852112, 14580349, 16109376
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7622068
GO:0005634	Component	Nucleus	TAS	29849146
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005665	Component	RNA polymerase II, core complex	IBA
GO:0005665	Component	RNA polymerase II, core complex	IDA	9852112
GO:0005694	Component	Chromosome	IDA	28076779
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16109376
GO:0005737	Component	Cytoplasm	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006353	Process	DNA-templated transcription termination	IMP	26700805
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	7622068
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	NAS	7622068
GO:0006366	Process	Transcription by RNA polymerase II	TAS	29849146
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	9852112
GO:0008270	Function	Zinc ion binding	IDA	27193682
GO:0008270	Function	Zinc ion binding	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019900	Function	Kinase binding	IPI	28076779
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17996703
GO:0033120	Process	Positive regulation of RNA splicing	IDA	21536736
GO:0034062	Function	5'-3' RNA polymerase activity	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050436	Function	Microfibril binding	EXP	28945358
GO:0050436	Function	Microfibril binding	IDA	28945358
GO:1990841	Function	Promoter-specific chromatin binding	IDA	24441171

Other IDs

• MIM: 180660
• HGNC: 9187
• e!Ensembl: ENSG00000181222

Protein

• UniProt ID: P24928
• Protein name: DNA-directed RNA polymerase II subunit RPB1 (RNA polymerase II subunit B1) (EC 2.7.7.6) (3'-5' exoribonuclease) (EC 3.1.13.-) (DNA-directed RNA polymerase II subunit A) (DNA-directed RNA polymerase III largest subunit) (RNA-directed RNA polymerase II subu
• Protein function: Catalytic core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates (By similarity) (PubMed:237483
• PDB: 2GHQ, 2GHT, 2LTO, 3D9K, 3D9L, 3D9M, 3D9N, 3D9O, 3D9P, 4JXT, 5IY6, 5IY7, 5IY8, 5IY9, 5IYA, 5IYB, 5IYC, 5IYD, 5M3H, 5M3J, 6DRD, 6F5P, 6G0R, 6IC8, 6IC9, 6O9L, 6Q5Y, 6XKB, 6XRE, 7EGB, 7EGC, 7LBM, 7YCX, 7Z1K, 7Z42, 8PM0, 8PNP, 8PNQ, 8R3K, 8R3L, 8R60, 8R65, 9B9L, 9EHZ, 9EI1, 9EI2, 9EI3, 9EI4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04997	RNA_pol_Rpb1_1	15 → 354	RNA polymerase Rpb1, domain 1	Domain
  PF00623	RNA_pol_Rpb1_2	356 → 521	RNA polymerase Rpb1, domain 2	Domain
  PF04983	RNA_pol_Rpb1_3	524 → 692	RNA polymerase Rpb1, domain 3	Domain
  PF05000	RNA_pol_Rpb1_4	716 → 823	RNA polymerase Rpb1, domain 4	Domain
  PF04998	RNA_pol_Rpb1_5	830 → 1427	RNA polymerase Rpb1, domain 5	Domain
  PF04992	RNA_pol_Rpb1_6	896 → 1079	RNA polymerase Rpb1, domain 6	Domain
  PF04990	RNA_pol_Rpb1_7	1164 → 1299	RNA polymerase Rpb1, domain 7	Domain
  PF05001	RNA_pol_Rpb1_R	1616 → 1629	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1630 → 1643	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1644 → 1657	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1651 → 1664	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1658 → 1671	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1665 → 1678	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1672 → 1685	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1679 → 1692	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1686 → 1699	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1693 → 1706	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1700 → 1713	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1707 → 1720	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1714 → 1727	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1721 → 1734	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1728 → 1741	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1735 → 1748	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1742 → 1755	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1749 → 1762	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1756 → 1769	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1763 → 1776	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1770 → 1783	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1778 → 1790	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1784 → 1797	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1791 → 1804	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1798 → 1811	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1805 → 1818	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1826 → 1839	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1833 → 1846	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1840 → 1853	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1847 → 1860	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1855 → 1867	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1861 → 1874	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1868 → 1881	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1889 → 1902	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1896 → 1909	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1904 → 1916	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1910 → 1923	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1917 → 1930	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1924 → 1936	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1931 → 1947	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1941 → 1954	RNA polymerase Rpb1 C-terminal repeat	Repeat
  PF05001	RNA_pol_Rpb1_R	1948 → 1960	RNA polymerase Rpb1 C-terminal repeat	Repeat

• Sequence:

  MHGGGPPSGDSACPLRTIKRVQFGVLSPDELKRMSVTEGGIKYPETTEGGRPKLGGLMDP
  RQGVIERTGRCQTCAGNMTECPGHFGHIELAKPVFHVGFLVKTMKVLRCVCFFCSKLLVD
  SNNPKIKDILAKSKGQPKKRLTHVYDLCKGKNICEGGEEMDNKFGVEQPEGDEDLTKEKG
  HGGCGRYQPRIRRSGLELYAEWKHVNEDSQEKKILLSPERVHEIFKRISDEECFVLGMEP
  RYARPEWMIVTVLPVPPLSVRPAVVMQGSARNQDDLTHKLADIVKINNQLRRNEQNGAAA
  HVIAEDVKLLQFHVATMVDNELPGLPRAMQKSGRPLKSLKQRLKGKEGRVRGNLMGKRVD
  FSARTVITPDPNLSIDQVGVPRSIAANMTFAEIVTPFNIDRLQELVRRGNSQYPGAKYII
  RDNGDRIDLRFHPKPSDLHLQTGYKVERHMCDGDIVIFNRQPTLHKMSMMGHRVRILPWS
  TFRLNLSVTTPYNADFDGDEMNLHLPQSLETRAEIQELAMVPRMIVTPQSNRPVMGIVQD
  TLTAVRKFTKRDVFLERGEVMNLLMFLSTWDGKVPQPAILKPRPLWTGKQIFSLIIPGHI
  NCIRTHSTHPDDEDSGPYKHISPGDTKVVVENGELIMGILCKKSLGTSAGSLVHISYLEM
  GHDITRLFYSNIQTVINNWLLIEGHTIGIGDSIADSKTYQDIQNTIKKAKQDVIEVIEKA
  HNNELEPTPGNTLRQTFENQVNRILNDARDKTGSSAQKSLSEYNNFKSMVVSGAKGSKIN
  ISQVIAVVGQQNVEGKRIPFGFKHRTLPHFIKDDYGPESRGFVENSYLAGLTPTEFFFHA
  MGGREGLIDTAVKTAETGYIQRRLIKSMESVMVKYDATVRNSINQVVQLRYGEDGLAGES
  VEFQNLATLKPSNKAFEKKFRFDYTNERALRRTLQEDLVKDVLSNAHIQNELEREFERMR
  EDREVLRVIFPTGDSKVVLPCNLLRMIWNAQKIFHINPRLPSDLHPIKVVEGVKELSKKL
  VIVNGDDPLSRQAQENATLLFNIHLRSTLCSRRMAEEFRLSGEAFDWLLGEIESKFNQAI
  AHPGEMVGALAAQSLGEPATQMTLNTFHYAGVSAKNVTLGVPRLKELINISKKPKTPSLT
  VFLLGQSARDAERAKDILCRLEHTTLRKVTANTAIYYDPNPQSTVVAEDQEWVNVYYEMP
  DFDVARISPWLLRVELDRKHMTDRKLTMEQIAEKINAGFGDDLNCIFNDDNAEKLVLRIR
  IMNSDENKMQEEEEVVDKMDDDVFLRCIESNMLTDMTLQGIEQISKVYMHLPQTDNKKKI
  IITEDGEFKALQEWILETDGVSLMRVLSEKDVDPVRTTSNDIVEIFTVLGIEAVRKALER
  ELYHVISFDGSYVNYRHLALLCDTMTCRGHLMAITRHGVNRQDTGPLMKCSFEETVDVLM
  EAAAHGESDPMKGVSENIMLGQLAPAGTGCFDLLLDAEKCKYGMEIPTNIPGLGAAGPTG
  MFFGSAPSPMGGISPAMTPWNQGATPAYGAWSPSVGSGMTPGAAGFSPSAASDASGFSPG
  YSPAWSPTPGSPGSPGPSSPYIPSPGGAMSPSYSPTSPAYEPRSPGGYTPQSPSYSPTSP
  SYSPTSPSYSPTSPNYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSP
  TSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPSYSPTSPS
  YSPTSPNYSPTSPNYTPTSPSYSPTSPSYSPTSPNYTPTSPNYSPTSPSYSPTSPSYSPT
  SPSYSPSSPRYTPQSPTYTPSSPSYSPSSPSYSPASPKYTPTSPSYSPSSPEYTPTSPKY
  SPTSPKYSPTSPKYSPTSPTYSPTTPKYSPTSPTYSPTSPVYTPTSPKYSPTSPTYSPTS
  PKYSPTSPTYSPTSPKGSTYSPTSPGYSPTSPTYSLTSPAISPDDSDEEN

• Sequence length: 1970

Pathways

KEGG:

RNA polymerase
Nucleotide excision repair
Huntington disease

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of HIV-1 elongation complex containing HIV-1 Tat
Viral Messenger RNA Synthesis
MicroRNA (miRNA) biogenesis
Transcriptional regulation by small RNAs
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
FGFR2 alternative splicing
RNA polymerase II transcribes snRNA genes
mRNA Capping
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Processing of Capped Intron-Containing Pre-mRNA
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
Estrogen-dependent gene expression

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs775858617	RCV001195309
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Likely pathogenic; Pathogenic	rs2150887186, rs2150881295, rs1567702275, rs887367647, rs2508139347, rs2508112587, rs2070588471, rs2070531732, rs1597796823, rs1597798340, rs1597798503, rs1597798507, rs1597803125, rs2070546216, rs775858617, rs2070665204, rs2070680579, rs2070711917, rs2070732825, rs1597803120, rs2070581346	RCV001374639 RCV001775338 RCV001843851 RCV002287216 RCV003223541 RCV003224936 RCV003322668 RCV003387589 RCV000852288 RCV000852289 RCV000852290 RCV000852291 RCV000852292 RCV001263520 RCV001263521 RCV001263522 RCV001263523 RCV001263524 RCV001262471 RCV004554855 RCV001293636
Severe global developmental delay	Likely pathogenic; Pathogenic	rs2070561031	RCV001799739

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Colon adenocarcinoma	Benign	rs3216887	RCV005871454
Developmental disorder	Uncertain significance	rs2150880440	RCV001843721
Lung cancer	Likely benign	rs201103756	RCV005931053
Malignant tumor of esophagus	Benign	rs3216887	RCV005871455
Nonpapillary renal cell carcinoma	Benign	rs3216887	RCV005871456
POLR2A-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs2228128, rs2228133, rs2228132, rs894700976, rs1567702408, rs1373010610, rs150809300, rs772307253, rs2508190969, rs2150890285, rs140294435, rs55822009, rs780675580, rs2301609, rs41556717, rs140036552, rs2228134, rs763308747, rs111673361, rs3216887, rs2071504, rs146946917, rs138378417, rs369697657, rs55931722	RCV003983998 RCV003968415 RCV003975934 RCV003404148 RCV003397001 RCV003399857 RCV003405924 RCV003414139 RCV003392901 RCV003402725 RCV003966373 RCV003919726 RCV003929678 RCV003979547 RCV003979743 RCV003903914 RCV003917001 RCV003951599 RCV003951431 RCV003972323 RCV003979249 RCV003957235 RCV003969181 RCV003976310 RCV003978170
See cases	Uncertain significance	rs2150872936, rs953325975, rs1432483030, rs2070721345, rs1442843700	RCV002252815 RCV002253034 RCV002252463 RCV002252656 RCV003232915
Uveal melanoma	Benign	rs3216887	RCV005871457

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	33001583
Attention Deficit Disorder with Hyperactivity	Associate	26598068
Autism Spectrum Disorder	Associate	33152507, 35328024
Breast Neoplasms	Associate	33568521
Carcinoma Non Small Cell Lung	Associate	28922562, 29751792
Carcinoma Ovarian Epithelial	Associate	34794761
Carcinoma Squamous Cell	Associate	24457517
Cerebral Palsy	Associate	35076175
Cholangitis Sclerosing	Associate	28056976
Cleft Palate	Associate	35689525
Colorectal Neoplasms	Associate	36811212
COVID 19	Associate	35927536
Craniosynostoses	Associate	37086723
Developmental Disabilities	Associate	31353023, 35328024, 35689525
Diabetes Mellitus Type 1	Associate	33029194, 33827531
Ependymoma	Associate	35689525
Epilepsy	Associate	35328024
Facial Dysmorphism with Multiple Malformations	Associate	35689525
Feeding and Eating Disorders	Associate	35689525
Gastrointestinal Stromal Tumors	Associate	21171987
Glioblastoma	Associate	34705606
Heart Diseases	Associate	35748249
Hepatomegaly	Associate	37603533
Hyperlipoproteinemia Type II	Associate	32938406
Infratentorial Neoplasms	Associate	35689525
Intellectual Disability	Associate	31353023
Kidney Diseases	Associate	37603533
Liver Cirrhosis Biliary	Associate	28056976
Liver Failure	Associate	37603533
Lung Neoplasms	Stimulate	33001583
Meningioma	Associate	27548314, 33772057, 35689525
Mucocutaneous Lymph Node Syndrome	Associate	30654760
Muscle Hypotonia	Associate	31353023, 35328024, 35689525
Necrosis	Associate	37603533
Neoplasm Metastasis	Associate	31262335
Neoplasms	Associate	22926559, 27548314, 28027311, 33772057, 35689525, 37603533
Neuroblastoma	Associate	33384420
Ovarian Neoplasms	Associate	30549251
Plaque Atherosclerotic	Associate	32938406
Prostatic Neoplasms Castration Resistant	Associate	30349055
Rupture	Associate	32938406
Self Mutilation	Associate	35328024
Strabismus	Associate	35328024
Triple Negative Breast Neoplasms	Associate	31262335