This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit
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 RPB3 (RNA polymerase II subunit 3) (RNA polymerase II subunit B3) (DNA-directed RNA polymerase II 33 kDa polypeptide) (RPB33) (DNA-directed RNA polymerase II subunit C) (RPB31)
Protein function
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. {ECO:0000269|PubMed:27193682, ECO:00002
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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Deafness
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["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 POLR2C (see Related Genes above), that are NOT already directly curated for POLR2C itself -- a lead worth checking, not a confirmed association.