This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over th
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
DNA-directed RNA polymerases I, II, and III subunit RPABC1 (RNA polymerases I, II, and III subunit ABC1) (DNA-directed RNA polymerase II 23 kDa polypeptide) (DNA-directed RNA polymerase II subunit E) (RPB5 homolog) (XAP4)
Protein function
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and
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","Cytosolic DNA-sensing pathway","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"]
["RNA polymerase","Nucleotide excision repair","Cytosolic DNA-sensing pathway","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"]
["RNA polymerase","Nucleotide excision repair","Cytosolic DNA-sensing pathway","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"]
["RNA polymerase","Nucleotide excision repair","Cytosolic DNA-sensing pathway","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"]
["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"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to POLR2E (see Related Genes above), that are NOT already directly curated for POLR2E itself -- a lead worth checking, not a confirmed association.