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
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
DNA-directed RNA polymerase II subunit RPB2 (EC 2.7.7.6) (3'-5' exoribonuclease) (EC 3.1.13.-) (DNA-directed RNA polymerase II 140 kDa polypeptide) (DNA-directed RNA polymerase II subunit B) (RNA polymerase II subunit 2) (RNA polymerase II subunit B2) (RN
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:271936
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["RNA polymerase","Nucleotide excision repair","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","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","mRNA Splicing - Major Pathway","mRNA Splicing - Minor Pathway"]
["RNA polymerase","Nucleotide excision repair","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","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","mRNA Splicing - Major Pathway","mRNA Splicing - Minor Pathway"]
["RNA polymerase","Nucleotide excision repair","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","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","mRNA Splicing - Major Pathway","mRNA Splicing - Minor Pathway"]
["RNA polymerase","Nucleotide excision repair","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","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","mRNA Splicing - Major Pathway","mRNA Splicing - Minor Pathway"]
["RNA polymerase","Nucleotide excision repair","Formation of RNA Pol II elongation complex ","RNA Polymerase II Pre-transcription Events","TP53 Regulates Transcription of DNA Repair Genes","RNA Polymerase II Transcription Elongation","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","mRNA Splicing - Major Pathway","mRNA Splicing - Minor Pathway"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to POLR2B (see Related Genes above), that are NOT already directly curated for POLR2B itself -- a lead worth checking, not a confirmed association.